From owner-chromosomes@net.bio.net Tue Mar 01 22:00:00 1994 Path: biosci!daresbury!trane.uninett.no!sunic!EU.net!howland.reston.ans.net!europa.eng.gtefsd.com!library.ucla.edu!csulb.edu!paris.ics.uci.edu!news.claremont.edu!cgsvax.claremont.edu!brackmaj From: brackmaj@cgsvax.claremont.edu Newsgroups: bionet.genome.chromosomes Subject: CANINE GENETICS Date: 1 Mar 94 15:49:11 PST Organization: The Claremont Graduate School Lines: 1 Message-ID: <1994Mar1.154911.1@cgsvax.claremont.edu> NNTP-Posting-Host: cgsvax.claremont.edu INTERESTED IN CANINE GENETICS? RUTH LEUBNER From owner-chromosomes@net.bio.net Tue Mar 01 22:00:00 1994 Newsgroups: bionet.genome.chromosomes Path: biosci!bcm!cs.utexas.edu!swrinde!sgiblab!nec-gw!netkeeper.sj.nec.com!vivaldi!seas.smu.edu!kvosika From: kvosika@sun.cis.smu.edu (Kara Vosika) Subject: Looking for help Message-ID: <1994Mar2.223614.13215@seas.smu.edu> Originator: kvosika@sun.cis.smu.edu Sender: news@seas.smu.edu (USENET News System) Nntp-Posting-Host: sun.cis.smu.edu Organization: Computing and Information Services Distribution: usa Date: Wed, 2 Mar 1994 22:36:14 GMT Lines: 3 I am looking for information concerning the Human Geno Project and was wondering if relevent data is covered by this newsgoup. I would also like to know if this group has any archives, FTP, FAQ's or WW sites. From owner-chromosomes@net.bio.net Wed Mar 02 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!torn!utnut!utcsri!newsflash.concordia.ca!canopus.cc.umanitoba.ca!xia From: xia@cc.umanitoba.ca (Xuhua Xia) Newsgroups: bionet.genome.chromosomes Subject: Request info on genome size of salamanders Date: 3 Mar 1994 04:12:06 GMT Organization: The University of Manitoba Lines: 7 Message-ID: <2l3o2m$7k2@canopus.cc.umanitoba.ca> NNTP-Posting-Host: bova.cc.umanitoba.ca Keywords: genome size, salamander Dear Colleagues, I should greatly appreciate information on genome size of any salamander species. Thank you in advance for your time. Xuhua From owner-chromosomes@net.bio.net Mon Mar 07 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!swrinde!gatech!news-feed-1.peachnet.edu!umn.edu!msus1.msus.edu!vax1.mankato.msus.edu!vengeance Newsgroups: bionet.genome.chromosomes Subject: Omaha Project Message-ID: <1994Mar8.084228.2350@vax1.mankato.msus.edu> From: vengeance@vax1.mankato.msus.edu Date: 8 Mar 94 08:42:28 -0500 Organization: Mankato State University Lines: 9 I am trying to build a list of names and E-Mail addresses of people in the Omaha Nebraska area for a school related project. If you live in Omaha or go to school there or know someone that does and will be around for three months or more, please reply via E-Mail to Vengeance@vax1.mankato.msus.edu. Thank you very much! Ryan Krueger From owner-chromosomes@net.bio.net Mon Mar 07 22:00:00 1994 Path: biosci!MGRP.BGSM.WFU.EDU!BOWDEN From: BOWDEN@MGRP.BGSM.WFU.EDU Newsgroups: bionet.genome.chromosomes Subject: Address Date: 8 Mar 1994 14:28:58 -0000 Organization: BIOSCI International Newsgroups for Molecular Biology Lines: 4 Sender: daemon@net.bio.net Distribution: bionet Message-ID: <01H9Q3I4TT4G8WWFUQ@MGRP.BGSM.WFU.EDU> NNTP-Posting-Host: net.bio.net Does anyone have the EMAIL address of the Peter Humphries lab in Dublin? I would appreciate getting it. Don Bowden bowden@mgrp.bgsm.wfu.edu From owner-chromosomes@net.bio.net Mon Mar 07 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!gatech!newsxfer.itd.umich.edu!news.cic.net!magnus.acs.ohio-state.edu!dmaresco From: dmaresco@magnus.acs.ohio-state.edu (Diane L Maresco) Newsgroups: bionet.genome.chromosomes Subject: Search for a human 1q Date: 8 Mar 1994 20:16:50 GMT Organization: The Ohio State University Lines: 17 Distribution: usa Message-ID: <2limfi$etu@charm.magnus.acs.ohio-state.edu> NNTP-Posting-Host: top.magnus.acs.ohio-state.edu I am in great need of a cell line that contains the 1q21 band of humans but not the 1p12 band. I am mapping a family of genes so similiar that there are no gene specific probes to distinguish them, larger than an oligo. FISH analysis has shown that the genes are present on the bands 1q21 and 1p12. In order to determine which genes are at each of these locuses I have tried to aquire Hamster-Rodent hybrids containing either the p or q arm of chromosome 1. I was able to gather 3 hybrids containg 1p but so far none that contain 1q, so at this point I can only tell half the story. If you can help me aquire such a cell line or know of someone who can please let me know. Sincerely, Diane Maresco Ohio State University From owner-chromosomes@net.bio.net Tue Mar 08 22:00:00 1994 Path: biosci!daresbury!trane.uninett.no!sunic!EU.net!sun4nl!news.nic.surfnet.nl!tuegate.tue.nl!news.win.tue.nl!news.win.tue.nl!not-for-mail From: watson@wsinpi01.win.tue.nl (Bruce W. Watson) Newsgroups: bionet.genome.chromosomes Subject: Looking for some test data Date: 9 Mar 1994 15:08:42 +0100 Organization: Eindhoven University of Technology, the Netherlands Lines: 31 Message-ID: <2lkl9b$1gs@wsinpi01.win.tue.nl> NNTP-Posting-Host: wsinpi01.info.win.tue.nl Hi all, I've recently finished implementing a pattern matching toolkit, all of whose algorithms have been proven correct. I now need some input test data to measure the performance of some of the algorithms. I've tested the algorithms on English input, and I now want to test the algorithms on genetic information. From what I understand, the input string is a long string (over the alphabet a,c,t,g); the keywords to search for are (shorter) strings over the same alphabet. What I want to know is: - How long is a typical input string? - How long is a typical keyword? - In general, do you search for all occurrences of a keyword in the input, or just the first occurrence? - Do you search for occurrences of one of a set of keywords, or just one keyword in the input string? - If you search with sets of keywords, are all of the keywords in the set of similar lengths, or of widely differing lengths? - If you search with sets of keywords, how many keywords are in the set? - What algorithm do you presently use in your software? (Knuth-Morris-Pratt, Boyer-Moore, Aho-Corasick, Commentz-Walter...etc.) - Can you provide me with some test data? Thanks for all responses, Later, Bruce. -- _____________________________________________________________________________ Bruce Watson || favourite oxymoron: "-- rather, it simply watson@win.tue.nl || complicates our implementation." from watson@stack.urc.tue.nl || C++ Primer, 2nd ed. (p.501) by S. Lippman From owner-chromosomes@net.bio.net Tue Mar 08 22:00:00 1994 Newsgroups: bionet.genome.chromosomes Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!EU.net!julienas!genethon!manu From: manu@genethon.fr (Emmanuel Barillot) Subject: HUGEMAP: CEPH-Genethon's Human Physical Map Data Mail-server and WWW server Message-ID: <1994Mar9.161823@genethon.fr> Originator: manu@genethon.genethon.fr Sender: news@genethon.fr Nntp-Posting-Host: genethon.genethon.fr Organization: Genethon -- Human Genome Research Centre Date: Wed, 9 Mar 1994 15:18:23 GMT Lines: 72 Announcing CEPH-Genethon's Human Physical Map Data Mail-server and WWW server These servers are experimental interfaces to the public part of the physical map database HUGEMAP. They are implemented on top of IDB, an object-oriented persistent environment developped at Genethon for this purpose. The data on clones or STSs can be accessed via Dnumbers, AFM names (for STSs) or CEPH names (or UNIX-style regular expressions matching one of these formats). This data is the same (except for more frequent updates) as that available on ceph-genethon-map ftp server, thus you can find: * for STSs: - screening results, with both positive (individually verified or unique) and individually negative clones. - for those clones, other STSs tested and chromosomal assignment through Alu-PCR product hybridization. * for clones: - screening results. - chromosomal assignment through Alu-PCR product hybridization. - potentially overlapping clones, as deduced from L1 and THE fingerprints and Alu-PCR product hybridization. To question our Mail-server for data about a YAC or a STS, send mail similar to : $ mail hugemap@genethon.fr Subject: request yac 636_h_11 989_h_7 sts AFM115xf2 D15S118 ^D or ask for the help file by sending a mail to hugemap@genethon.fr with 'help' as the subject. For more information on our WWW server and/or data and/or fun, just aim your favourite mosaic client at URL : http://www.genethon.fr and click on "Access to CEPH-Genethon Map WWW server" or directly load: http://ceph-genethon-map.genethon.fr/ceph-genethon-map.html Additionally, the WWW server provides: * links toward the GDB gopher server for clones or STSs that have Dnumbers. * links toward Genethon's Human Genetic Map Data wais server for Genethon's microsatellites: this server contains full sequence for those STSs. Those links are, of course, hypertext links, i.e. are accessible through clicking on object names. Any feedback, comment or suggestion are welcome at: hugemap@genethon.fr (put 'message' or 'hugemap' as the subject in your mail). HUGEMAP team (Eric Viara, Stuart Pook, Emmanuel Barillot, Bruno Lacroix). Genethon 13, place de Rungis 75013 Paris, FRANCE tel: (33) (1) 44 16 27 20 fax: (33) (1) 45 88 52 20 From owner-chromosomes@net.bio.net Tue Mar 08 22:00:00 1994 Newsgroups: bionet.genome.chromosomes Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!nctuccca.edu.tw!news!Net.nthu.edu.tw!nthcs10!whchen From: whchen@nthcs10 (dr798302) Subject: Mapping by polymorphism Message-ID: <1994Mar9.153211.25894@Net.nthu.edu.tw> Sender: news@Net.nthu.edu.tw (News Manager on Y5) Nntp-Posting-Host: unknown@nthcs10.cs.nthu.edu.tw Organization: National Tsing Hua University (HsinChu) X-Newsreader: TIN [version 1.2 PL2] Date: Wed, 9 Mar 1994 15:32:11 GMT Lines: 8 Hello. I attend a course in gene and genomes which ask me to present for the topic "Mapping by polymorphism: normality and variance". Because I from the computer science area, I have no ideas in that topic. But I am strongly interested in genetics. Can anyone explain a bit about it so that I can have a ground to start from? Thanks. Allen From owner-chromosomes@net.bio.net Wed Mar 09 22:00:00 1994 Path: biosci!biosci!not-for-mail From: manu@genethon.fr (Emmanuel Barillot) Newsgroups: bionet.announce,bionet.general,bionet.genome.chromosomes Subject: HUGEMAP: CEPH-Genethon's Human Physical Map Data Mail-server and WWW server Date: 9 Mar 1994 21:50:01 -0800 Organization: Genethon -- Human Genome Research Centre Lines: 71 Sender: kristoff@net.bio.net Approved: bionews-moderator@net.bio.net Distribution: bionet Message-ID: <1994Mar8.163206@genethon.fr> NNTP-Posting-Host: net.bio.net Xref: biosci bionet.announce:1000 bionet.general:8180 bionet.genome.chromosomes:193 Announcing CEPH-Genethon's Human Physical Map Data Mail-server and WWW server These servers are experimental interfaces to the public part of the physical map database HUGEMAP. They are implemented on top of IDB, an object-oriented persistent environment developped at Genethon for this purpose. The data on clones or STSs can be accessed via Dnumbers, AFM names (for STSs) or CEPH names (or UNIX-style regular expressions matching one of these formats). This data is the same (except for more frequent updates) as that available on ceph-genethon-map ftp server, thus you can find: * for STSs: - screening results, with both positive (individually verified or unique) and individually negative clones. - for those clones, other STSs tested and chromosomal assignment through Alu-PCR product hybridization. * for clones: - screening results. - chromosomal assignment through Alu-PCR product hybridization. - potentially overlapping clones, as deduced from L1 and THE fingerprints and Alu-PCR product hybridization. To question our Mail-server for data about a YAC or a STS, send mail similar to : $ mail hugemap@genethon.fr Subject: request yac 636_h_11 989_h_7 sts AFM115xf2 D15S118 ^D or ask for the help file by sending a mail to hugemap@genethon.fr with 'help' as the subject. For more information on our WWW server and/or data and/or fun, just aim your favourite mosaic client at URL : http://www.genethon.fr and click on "Access to CEPH-Genethon Map WWW server" or directly load: http://ceph-genethon-map.genethon.fr/ceph-genethon-map.html Additionally, the WWW server provides: * links toward the GDB gopher server for clones or STSs that have Dnumbers. * links toward Genethon's Human Genetic Map Data wais server for Genethon's microsatellites: this server contains full sequence for those STSs. Those links are, of course, hypertext links, i.e. are accessible through clicking on object names. Any feedback, comment or suggestion are welcome at: hugemap@genethon.fr (put 'message' or 'hugemap' as the subject in your mail). HUGEMAP team (Eric Viara, Stuart Pook, Emmanuel Barillot, Bruno Lacroix). Genethon 13, place de Rungis 75013 Paris, FRANCE tel: (33) (1) 44 16 27 20 fax: (33) (1) 45 88 52 20 From owner-chromosomes@net.bio.net Fri Mar 18 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!sdd.hp.com!saimiri.primate.wisc.edu!mimbres.cs.unm.edu!ees1a0.engr.ccny.cuny.edu!rpi!sarah!psinntp!psinntp!barilvm!vms.huji.ac.il!wisipc.weizmann.ac.il!inherit4.weizmann.ac.il! lsprilus Newsgroups: bionet.genome.chromosomes Subject: Announcement: Chromosome 17 database Message-ID: <1994Mar18.102232.14246@wisipc.weizmann.ac.il> From: Jaime Prilusky Date: Fri, 18 Mar 1994 10:22:32 GMT Sender: news@wisipc.weizmann.ac.il (News User) Organization: Weizmann Institute of Science X-Xxmessage-Id: X-Xxdate: Fri, 18 Mar 94 10:21:22 GMT X-Useragent: Version 1.1.3 Lines: 36 Announcement: Chromosome 17 database The Genome Center at the Weizmann Institute of Science (WIS) in Rehovot, Israel, has established a Human Chromosome 17 group. This includes Prof. Doron Lancet - olfactory receptors (also Head of the WIS Genome Project - genome-related enquiries may be addressed to him at BMLANCET@WEIZMANN.WEIZMANN.AC.IL); Profs. Varda Roter and Moshe Oren - p53; Profs. Yossef Yarden and David Givol - Oncogene Neu; Dr. Orly Reiner - Miller Dieker Lissencephaly. As one of our activities, we are currently developing, in collaboration with Dr. Jaime Prilusky, head of the WIS Bioinformatics unit, a human Chromosome 17 database, based on the ACEDB (*) software, that will manage genetic and physical maps. The database will include the data provided by or taken from the following databases and data repositories: Chromosome 17 YAC Database, GDB, OMIM, EMBL, Genethon. We welcome all collaboration and will appreciate your suggestions in improving this database, that is going to be placed in the public domain in the near future. For further information, please contact Jaime Prilusky (lsprilus@weizmann.weizmann.ac.il) (*) ACEDB was written and developed by Richard Durbin (MRC LMB Cambridge, England) and Jean Thierry-Mieg (CNRS, Montpellier, France), beginning circa 1990. ACEDB allows for automatic cross-referencing of items during loading and allows for hypertextual navigation of the links using a graphical user interface and mouse. -- Dr Jaime Prilusky, Head ! lsprilus@weizmann.weizmann.ac.il Bioinformatics Unit ! lsprilus@bioinformatics.weizmann.ac.il Dep. of Biological Services ! Weizmann Institute of Science ! fax: 972-8-344113 76100 Rehovot - Israel ! tel: 972-8-343456 From owner-chromosomes@net.bio.net Sun Mar 20 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!agate!lmf8.berkeley.edu!user From: aquraish@uclink.berkeley.edu (Ausaf Ahmad) Newsgroups: bionet.genome.chromosomes Subject: Re: DNA Followup-To: bionet.genome.chromosomes Date: 21 Mar 1994 06:30:21 GMT Organization: UC Berkeley Lines: 55 Distribution: world Message-ID: References: <2mj7n6$9ji@eis.calstate.edu> NNTP-Posting-Host: lmf8.berkeley.edu In article <2mj7n6$9ji@eis.calstate.edu>, dlevins@eis.calstate.edu (David Levinson) wrote: > > -- > Hi, > I have a few questions that I need answers to URGENTLY regarding DNA. > 1) My teacher told me that DNA only produces proteins, and I always > thought that it created the WHOLE body and was the design. What is the > truth? > 2) I know about DNA replication, but can someone go into the process a little > further and explain DNA and RNA? > 3) I have been told that DNA is the same in ALL species of organisms, if this > is true, why can't we replicate or change an organism yet? > Overall, can someone explain what DNA really does, and is? Thanks! > David Levinson > Hi. Here are some answers to your questions. Yes, DNA codes only for proteins. However it is not the sole determinant of how an organism functions. The way in which the proteins interact with the environment also affects the outcome of the organism. This is especially important during development when environmental factors combine with genetic factors to determine the outcome of the organism. DNA can be thought of as the original or master blueprint of your genes. It is found only in the nucleus of cell. When a cell needs a particular protein, it copies the relevant information from the DNA in the nucleus into an RNA analog. This is like you going into a library and photocopying a relevant page out of a book. The DNA is like the entire library and the photocopy is like the RNA. The RNA molecule is then transported out of the nucleus and to the cytoplasm. In the cytoplasm, proteins called ribosomes translate the RNA sequence into a protein sequence. There are important molecular differences between DNA and RNA. In DNA there is no hydroxy group on the 2' ribose carbon. However in RNA there is a hydroxy group at the 2' carbon. This makes DNA more stable than RNA, allowing the cell to easily degrade RNA in the cytoplasm when the cell is done making the necessary protein from the RNA. Also, while DNA's code consists of adenenine, guanine, cytosine, and thymine nucleotide residues, RNA substitutes uracil for thymine. There are other more complicated differences between DNA and RNA but the two I mentioned above are basic. Yes, DNA is the same in nearly all organisms and we can indeed change organisms using genetic engineering. For example, the gene for insulin can be spliced out of one organism and inserted into bacterial chromosomes. Thus, you can grow bacteria which contain the insulin gene and produce insulin for human use. Hope this helps. Sincerely, Ausaf From owner-chromosomes@net.bio.net Sun Mar 20 22:00:00 1994 Path: biosci!bcm!cs.utexas.edu!usc!nic-nac.CSU.net!ctp.org!not-for-mail From: dlevins@eis.calstate.edu (David Levinson) Newsgroups: bionet.genome.chromosomes Subject: DNA Date: 20 Mar 1994 20:27:18 -0800 Organization: California Technology Project of The Calif State Univ Lines: 21 Message-ID: <2mj7n6$9ji@eis.calstate.edu> NNTP-Posting-Host: eis.calstate.edu -- Hi, I have a few questions that I need answers to URGENTLY regarding DNA. 1) My teacher told me that DNA only produces proteins, and I always thought that it created the WHOLE body and was the design. What is the truth? 2) I know about DNA replication, but can someone go into the process a little further and explain DNA and RNA? 3) I have been told that DNA is the same in ALL species of organisms, if this is true, why can't we replicate or change an organism yet? Overall, can someone explain what DNA really does, and is? Thanks! David Levinson ***************************David Levinson********************* SysOp at The *Universal* BBS! Call now! 510-484-2774 Other Internet Addresses: Dlevins@ctp.org Dlevins@sierra.fwl.edu *Quote of the day, "The sky is falling!" Not bad,eh?****** From owner-chromosomes@net.bio.net Sun Mar 20 22:00:00 1994 Path: biosci!NVEGW.CRL.AECL.CA!Clive.L.Greenstock From: Clive.L.Greenstock@NVEGW.CRL.AECL.CA Newsgroups: bionet.genome.chromosomes Subject: mitochondria Date: 21 Mar 1994 12:09:21 -0800 Organization: BIOSCI International Newsgroups for Molecular Biology Lines: 5 Sender: daemon@net.bio.net Distribution: bionet Message-ID: <940321145539769-MTANVE*Clive.L.Greenstock@NVE.CRL.AECL.CA> NNTP-Posting-Host: net.bio.net N Can anyone tell me how many mitochondria there are in human lymphocytes and fibroblasts (references please). Clive Greenstock, AECL Research Chalk River Canada greenstockc@NVE.CRL.EACL.CA From owner-chromosomes@net.bio.net Wed Mar 23 22:00:00 1994 Path: biosci!agate!howland.reston.ans.net!gatech!mailer.acns.fsu.edu!usenet.ufl.edu!srcros1.pathology.ufl.edu!sjj From: sjj@srcros1.pathology.ufl.edu (Song-Muh Jong) Newsgroups: bionet.genome.chromosomes Subject: Diff. between female and male chromosomes? Date: Thu, 24 Mar 1994 08:38:09 Organization: University of Florida Lines: 15 Message-ID: NNTP-Posting-Host: srcros1.pathology.ufl.edu X-Newsreader: Trumpet for Windows [Version 1.0 Rev A] Hello, I used to have an impression that human chromosomes are the simple 23 pairs. However, the linkage maps of human chromosomes indicate that female maps are larger than male maps. Can someone explain this phenomenon? TIA, Song-Muh ---- Song-Muh Jong TEL: (904) 392-0011 BITNET: sjj@ufbiot FAX: (904) 392-6249 Internet: sjj@icbr.ifas.ufl.edu From owner-chromosomes@net.bio.net Wed Mar 23 22:00:00 1994 Path: biosci!agate!dog.ee.lbl.gov!ihnp4.ucsd.edu!swrinde!cs.utexas.edu!howland.reston.ans.net!usenet.ins.cwru.edu!lerc.nasa.gov!purdue!news.cs.indiana.edu!nstn.ns.ca!dal1!03chris From: 03chris@ac.dal.ca Newsgroups: bionet.general,bionet.genome.chromosomes Subject: human genome project/gene therapy Message-ID: <1994Mar24.134201.22304@dal1> Date: 24 Mar 94 13:42:01 -0400 Organization: Dalhousie University, Halifax, Nova Scotia, Canada Lines: 6 Xref: biosci bionet.general:8358 bionet.genome.chromosomes:199 hello... I'm wondering, does anyone know the current status of the Human Genome Project? Also, does Canada have any codified stance regarding germ-line gene therapy? Would appreciate any information. Thanks ahead. chris phillips From owner-chromosomes@net.bio.net Thu Mar 24 22:00:00 1994 Newsgroups: bionet.genome.chromosomes Path: biosci!bcm!cs.utexas.edu!howland.reston.ans.net!pipex!uknet!festival!gtclark From: gtclark@festival.ed.ac.uk (G T Clark) Subject: Re: Diff. between female and male chromosomes? References: Message-ID: Organization: Edinburgh University Date: Fri, 25 Mar 1994 14:09:51 GMT Lines: 12 sjj@srcros1.pathology.ufl.edu (Song-Muh Jong) writes: >Hello, >I used to have an impression that human chromosomes are the simple 23 pairs. >However, the linkage maps of human chromosomes indicate that female maps are >larger than male maps. Can someone explain this phenomenon? Recombination happens at a higher frequency in the female. Why this is the case, I don't know. G. From owner-chromosomes@net.bio.net Fri Mar 25 22:00:00 1994 Path: biosci!agate!ihnp4.ucsd.edu!sdd.hp.com!news.cs.indiana.edu!nstn.ns.ca!coranto.ucs.mun.ca!leif!roger From: roger@kean.ucs.mun.ca (ROGER GREEN,MEDICINE,ST.JOHN'S,NF,CAN) Newsgroups: bionet.genome.chromosomes Subject: Re: Diff. between female and male chromosomes? Date: 25 Mar 94 12:14:20 -0330 NST Organization: Memorial University. St.John's Nfld, Canada Lines: 16 Message-ID: <1994Mar25.121420.1@leif> References: NNTP-Posting-Host: leif.ucs.mun.ca In article , sjj@srcros1.pathology.ufl.edu (Song-Muh Jong) writes: > I used to have an impression that human chromosomes are the simple 23 pairs. > However, the linkage maps of human chromosomes indicate that female maps are > larger than male maps. Can someone explain this phenomenon? > Song-Muh Jong TEL: (904) 392-0011 This is simply a consequence of the fact that during meiosis in a female (i.e. ovum production), the rate of recombination (crossing over) between homologous pairs of chromosomes is greater than the rate during meiosis in a male (during spermatogenesis). In linkage maps, map distance is a function of the rate of recombination between loci on the map. Thus female map distances are "longer". Roger C. Green, Faculty of Medicine Phone: (709)737-6884 Memorial University , St. John's, Newfoundland FAX : (709)737-7010 From owner-chromosomes@net.bio.net Tue Mar 29 23:00:00 1994 Path: biosci!agate!howland.reston.ans.net!pipex!zaphod.crihan.fr!jussieu.fr!univ-lyon1.fr!ghost.dsi.unimi.it!sun.cisi.unige.it!moana.ibf.unige.it!diaspro From: diaspro@moana.ibf.unige.it () Newsgroups: bionet.genome.chromosomes Subject: achondroplasia gene localization on chromosome 4p Date: 30 Mar 1994 12:34:11 GMT Organization: String to put in the Organization Header Lines: 20 Message-ID: <2nbrk3$2jv@sun.cisi.unige.it> NNTP-Posting-Host: diaspro%@moana.ibf.unige.it X-Newsreader: TIN [version 1.2 PL2] Dear colleagues, i have read on Nature genetics volume 6 march 1994, by Le merrer et al. and byVelinov et al. two works on the localization of the gene of achondroplasia on chromosome 4p. I am an electronic engineer and i am involved in biopohysical reasearches, especially optical methods and microscopic techniques. My sister is affected by ACH and i would be ionterested in information about family studies and about the possibility of conducting researchjes by means of FLUORESCENCE IN SITU HYBRIDIZATION technoique. Thank you very muvch for your attention to this unusual letter. My Institutional address for mailing is Alberto DIASPRO Inst. Biophysics Universit7y of Genova Via Giotto, 2 16153 Genova - Italy Sincerely yours Alberto Diaspro From owner-chromosomes@net.bio.net Tue Mar 29 23:00:00 1994 Path: biosci!GDB.ORG!jamie From: jamie@GDB.ORG (A. Jamie Cuticchia) Newsgroups: bionet.genome.chromosomes Subject: Re: achondroplasia gene localization on chromosome 4p Date: 30 Mar 1994 10:09:55 -0800 Organization: BIOSCI International Newsgroups for Molecular Biology Lines: 750 Sender: daemon@net.bio.net Distribution: bionet Message-ID: <9403301809.AA05345@dev.gdb.org> NNTP-Posting-Host: net.bio.net > Dear colleagues, > i have read on Nature genetics volume 6 march 1994, by Le merrer et > al. and byVelinov et al. two works on the localization of the > gene of achondroplasia on chromosome 4p. > I am an electronic engineer and i am involved in biopohysical > reasearches, especially optical methods and microscopic > techniques. My sister is affected by ACH and i would be ionterested > in information about family studies and about the possibility > of conducting researchjes by means of FLUORESCENCE IN SITU > HYBRIDIZATION technoique. > Thank you very muvch for your attention to this unusual letter. > My Institutional address for mailing is > Alberto DIASPRO > Inst. Biophysics > Universit7y of Genova > Via Giotto, 2 > 16153 Genova - Italy > Sincerely yours > Alberto Diaspro Attached is the entry for ACH from the Online Version of Victor McKusick's Mendelian Inheritance in Man. Hopefully it will provide some useful information. ----- Begin Included Message ----- From jamie@gdb.org Wed Mar 30 10:42:15 1994 Date: Wed, 30 Mar 94 10:42:21 EST From: jamie@gdb.org To: jamie@gdb.org Subject: *100800 ACHONDROPLASIA [ACH] Content-Length: 33700 *RECORD* *FIELD* NO 100800 *FIELD* TI *100800 ACHONDROPLASIA [ACH] *FIELD* LD New-Structure. This entry has been restructured according to a new editorial policy. A statement on the new editorial policy can be found under menu item 3 of the GDB entry screen or by retrieving a special policy statement entry in OMIM with '000000.' Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. Achondroplasia is an autosomal dominant disorder; a majority of cases are sporadic, the result of a de novo mutation. The causative gene has been located on the distal end of the short arm of chromosome 4 (Velinov et al., 1994; Le Merrer et al., 1994; Francomano et al., 1994). *FIELD* PT CLINICAL FEATURES Whereas many conditions that cause short stature have inappropriately been called achondroplasia in the past, the phenotype of this osteochondrodysplasia is so distinctive and so easily identified clinically and radiologically at birth that confusion should not occur. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Hyperextensibility of most joints, especially the knees, is common, but extension and rotation are limited at the elbow. A thoracolumbar gibbus is typically present at birth, but usually gives way to exaggerated lumbar lordosis when the child begins to ambulate. Mild to moderate hypotonia is common, and motor milestones are usually delayed. Intelligence is normal unless hydrocephalus or other central nervous system complications arise. In 13 achondroplastic infants, Hecht et al. (1991) found that cognitive development was average and did not co. rrelate with motor development which typically was delayed. It was noteworthy that reduced mental capacity correlated with evidence of respiratory dysfunction detected by polysomnography. In children, caudad narrowing of the interpeduncular distance, rather than the normal caudad widening, and a notchlike sacroiliac groove are typical radiologic features. Also in children, epiphyseal ossification centers show a circumflex or chevron seat on the metaphysis. Limb shortening is especially striking in the proximal segments, e.g., the humerus; hence the description rhizomelic ('root limb'). The radiologic features of true achondroplasia and much concerning the natural history of the condition were presented by Langer et al. (1967) on the basis of a study of 101 cases and by Hall (1988). True megalencephaly occurs in achondroplasia and has been speculated to indicate effects of the gene other than those on the skeleton alone (Dennis et al., 1961). Disproportion between the base of the skull and the brain results in internal hydrocephalus in some cases. The hydrocephalus may be caused by increased intracranial venous pressure due to stenosis of the sigmoid sinus at the level of the narrowed jugular foramina (Pierre-Kahn et al., 1980). Hall et al. (1982) pointed out that the large head of the achondroplastic fetus creates an increased risk of intracranial bleeding during delivery. They recommended that in the management of achondroplastic infants ultrasonography be done at birth and at 2, 4 and 6 months of age to establish ventricular size, the presence or absence of hydrocephalus, and possible intracranial bleed. They stated the impression that some achondroplasts have only megalencephaly, others have true communicating hydrocephalus, and yet others have dilated ventricles without hydrocephalus. Nelson et al. (1988) concluded that brainstem compression is common in achondroplasia and may account in part for the abnormal respiratory function. Hecht et al. (1988) . reviewed the subject of obesity in achondroplasia, concluding that it is a major problem which, whatever its underlying cause, aggravates the morbidity associated with lumbar stenosis and contributes to the nonspecific joint problems and to the possible early cardiovascular mortality in this condition. Homozygosity for the achondroplasia gene results in a severe disorder of the skeleton with radiologic changes qualitatively somewhat different from those of the usual heterozygous achondroplasia; early death results from respiratory embarrassment from the small thoracic cage and neurologic deficit from hydrocephalus (Hall et al., 1969). Yang et al. (1977) reported upper cervical myelopathy in a homozygote. Horton et al. (1988) found that the epiphyseal and growth plate cartilages have a normal appearance histologically, and the major matrix constituents exhibit a normal distribution by immunostaining; however, morphometric investigations have indicated that the growth plate is shorter than normal and that the shortening is greater in homozygous than in heterozygous achondroplasia, suggesting a gene dosage effect. Stanescu et al. (1990) reported histochemical, immunohistochemical, electron microscopic, and biochemical studies on upper tibial cartilage from a case of homozygous achondroplasia. No specific abnormality was defined. Aterman et al. (1983) expressed puzzlement at the striking histologic changes in homozygous achondroplasia despite the virtual absence of changes in the heterozygote. They pointed out that histologic studies in the heterozygote at a few weeks or months of age have not been done. They suggested that because of similarities between what they called PHA (presumed homozygous achondroplasia) and thanatophoric dwarfism (187600), some cases of the latter condition may be due to a particularly severe mutation at the achondroplasia locus. Hypochondroplasia (146000) may be caused by an allele at the achondroplasia locus. The evidence comes from o. bservations of a presumed genetic compound in the offspring of an achondroplastic father and a hypochondroplastic mother who exhibited growth deficiency and radiographic abnormalities of the skeleton that were much more severe than those typically seen in achondroplasia (McKusick et al., 1973; Sommer et al., 1987) and somewhat less severe than those of the ACH homozygote. Young et al. (1992) described lethal short-limb dwarfism in the offspring of a father with spondyloepiphyseal dysplasia congenita (SEDC; 183900) and a mother with achondroplasia. Young et al. (1992) suggested that the infant was a double heterozygote for the 2 dominant genes rather than a compound heterozygote. It was considered unlikely that SEDC and achondroplasia are allelic because of the evidence that most, if not all, cases of SEDC result from mutation in the type II collagen gene (COL2A1; 120140), whereas this gene has been excluded as the site of the mutation in achondroplasia. In a presentation of adult genetic skeletal dysplasias found in the Museum of Pathological Anatomy in Vienna, Beighton et al. (1993) pictured the skeleton of a 61-year-old man with achondroplasia who died of transverse myelitis. Randolph et al. (1988) reported an achondroplastic patient who developed classic ankylosing spondylitis (106300). There is no fundamental connection between the 2 disorders. The importance of the observation is mainly to indicate that back problems in achondroplasts can be due to causes other than the underlying disease. *FIELD* GT MODE OF INHERITANCE Achondroplasia is inherited as an autosomal dominant with essentially complete penetrance. About seven-eighths of cases are the result of new mutation, there being a considerable reduction of effective reproductive fitness. Paternal age effect on mutation was noted by Penrose (1955). Stoll et al. (1982) reported advanced paternal age in sporadic cases ascertained through the French counterpart of LPA (Little People of America), APPT (. Association des Personnes de Petite Taille). Thompson et al. (1986) found that, on average, the severity of achondroplasia tends to be reduced with increasing parental age. It is doubtful that a recessive form of achondroplasia, indistinguishable from the dominant form, exists. Documentation of the diagnosis is inadequate in most reports of possible recessive inheritance. Cohn and Weinberg (1956) reported affected twins with an affected sib. (This may have been achondrogenesis, e.g., 200600). Chiari (1913) reported affected half-sibs whose father had achondroplasia. Two first cousins, whose mothers were average-statured sisters, had undoubted achondroplasia (Wadia, 1969). Most dominants show sufficient variability to account for observations such as these on the basis of reduced penetrance but such is not the case with achondroplasia. Gonadal mosaicism (or spermatogonial mutation) is a possible explanation for affected sibs from normal parents. Bowen (1974) described a possible instance of gonadal mosaicism; 2 daughters of normal parents had achondroplasia. One of the daughters had 2 children, one of whom was also achondroplastic. Fryns et al. (1983) reported 3 achondroplastic sisters born to normal parents. Philip et al. (1988) described the case of a man who had 3 daughters with classic achondroplasia, by 2 different women. Affected cousins could be due to the coincidence of two independent mutations. Such was probably the case, in McKusick's opinion, in the second cousins once removed reported by Fitzsimmons (1985). Reiser et al. (1984) reviewed 6 families with unexpected familial recurrence and hypothesized that these recurrences were simply the result of two independent chance events. Dodinval and Le Marec (1987) reported 2 families, each with 2 cases of achondroplasia. In 1 family, a girl and her great aunt were affected; in the other, male and female first cousins. Both germinal mosaicism and paternal age effect appear to have their basis in . the way spermatogonia are replenished, a feature that distinguishes gametogenesis in the male from that in the female. As outlined by Clermont (1966), spermatogonia go through a few mitotic divisions before embarking on the meiotic divisions that lead to mature sperm. Some of the products of the mitotic divisions are returned to the 'cell bank' to replenish the supply of spermatogonia. Mutations occurring during DNA replication can, therefore, accumulate, providing a basis for paternal age effect and for germinal mosaicism. Hoo (1984) suggested a small insertional translocation as a possible mechanism for recurrent achondroplasia in sibs with normal parents. The severe phenotype of the homozygote for the ACH gene and the possibility that hypochondroplasia represents an allelic disorder were discussed in connection with the discussion of clinical features of achondroplasia. MAPPING INFORMATION Strom (1984) and Eng et al. (1985) purported to find abnormality of the type II collagen gene in achondroplasia. If such a defect is present, one might expect ocular abnormality in achondroplasia inasmuch as type II collagen is present in vitreous. SED congenita was a more plausible candidate for a structural defect of type II collagen because it is a dominant disorder that combines skeletal dysplasia with vitreous degeneration and deafness (experimental studies with antibodies to type II collagen indicate that this collagen type is represented in the middle ear); subsequently, defects were in fact found in the COL2A1 gene in SEDC. The report by Eng et al. (1985) was withdrawn (see retraction, Eng et al., 1986) because figures, 'which were generated in the laboratory of C. Strom and C. Eng, were improperly assembled and therefore cannot be used to support the conclusions of the article.' Francomano and Pyeritz (1988) excluded COL2A1 as the site of the mutation in achondroplasia by use of probes spanning the gene in an analysis of genomic DNA from 49 affected persons and. 2 multiplex families. No gross rearrangements were seen on Southern blot analysis, and linkage studies in the multiplex families demonstrated discordant inheritance of achondroplasia and COL2A1 alleles. Evidence against linkage to COL2A1 has been presented before by Ogilvie et al. (1986). From their studies, Finkelstein et al. (1991) concluded that mutations at the chondroitin sulfate proteoglycan core protein (CSPGCP) locus do not cause achondroplasia or pseudoachondroplasia (177170). Edwards et al. (1988) commented on a report, made at the national meeting of the Neurofibromatosis Foundation, of 2 individuals with achondroplasia and neurofibromatosis (162200) who had translocations involving the long arm of chromosome 17. In both cases the breakpoint was at the region consistent with localization of the neurofibromatosis gene by linkage studies; a third case of coincident achondroplasia and neurofibromatosis was also mentioned. Korenberg et al. (1989) and Pulst et al. (1990) demonstrated by linkage analysis that the achondroplasia locus does not map between the 2 groups of markers flanking the gene for neurofibromatosis-1 on human chromosome 17. Verloes et al. (1991) observed connatal neuroblastoma in an infant with achondroplasia and suggested that the achondroplasia gene may be located on the short arm of chromosome 1 where the neuroblastoma gene (256700) appears to be situated. By linkage studies using DNA markers, Velinov et al. (1994) and Le Merrer et al. (1994) mapped the gene for achondroplasia and hypochondroplasia to the distal area of the short arm of chromosome 4 (4p16.3). Francomano et al. (1994) likewise mapped the ACH gene to 4p16.3, using 18 multigenerational families with achondroplasia and 8 anonymous dinucleotide repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis of a recombinant family localized the ACH locus to the 2.5-Mb region between D4S43 and the telomere. MOLECULAR GENETICS Iden. tification of the genetic defect in achondroplasia has been elusive, but now that the gene has been assigned to a specific location on 4p (Le Merrer et al., 1994; Velinov et al., 1994; Francomano et al., 1994), cloning of the gene and identification of mutations should not be far off. *FIELD* DG The diagnosis is based on the typical clinical and radiologic features; the delineation from severe hypochondroplasia may be arbitrary. *FIELD* CM Recommendations for follow-up and management were reviewed at the first international symposium on achondroplasia (Nicoletti et al., 1988) and by Horton and Hecht (1993). The recommendations included: measurements of growth and head circumference using growth curves standardized for achondroplasia (Horton et al., 1978); careful neurologic examinations (including CT, MRI, somatosensory evoked potentials and polysomnography) and surgical enlargement of the foramen magnum in cases of severe stenosis; management of frequent middle ear infections and dental crowding; measures to control obesity starting in early childhood; growth hormone therapy (Horton et al., 1992), which is still experimental, and lengthening of the limb bones; tibial osteotomy or epiphysiodesis of the fibular growth plate to correct bowing of the legs; lumbar laminectomy for spinal stenosis which typically manifests in early adulthood; delivery of pregnant women with achodroplasia by cesarean section; and prenatal detection of affected fetuses by ultrasound. *FIELD* PG The prevalence of achondroplasia is uncertain; previous estimates are undoubtedly incorrect because of misdiagnosis. For example, Wallace et al. (1970) reported 2 female sibs as examples of achondroplasia; both died in the neonatal period and showed, in addition to chondrodystrophy, central harelip, hypoplastic lungs, and hydrocephalus. Without radiographic studies it is impossible to identify the nature of this condition, but it is certainly not true achondroplasia; Jeune asphyxiating thoracic. dystrophy (208500), thanatophoric dwarfism, and achondrogenesis are each possibilities. Using modern diagnostic criteria, Gardner (1977) estimated the mutation rate at 0.000014. Orioli et al. (1986) reported on the frequency of skeletal dysplasias among 349,470 births (live and stillbirths). The prevalence rate for achondroplasia was between 0.5 and 1.5/10,000 births. The mutation rate was estimated to be between 1.72 and 5.57 x 10(-5) per gamete per generation. The stated range is a consequence of the uncertainty of diagnosis in some cases. (The thanatophoric dysplasia/achondrogenesis group had a prevalence between 0.2 and 0.5/10,000 births. Osteogenesis imperfecta had a prevalence of 0.4/10,000 births. Only 1 case of diastrophic dysplasia was identified.) In the county of Fyn in Denmark, Andersen and Hauge (1989) determined the prevalence of generalized bone dysplasias by study of all children born in a 14-year period. The figures, which they referred to as 'point-prevalence at birth,' showed that achondroplasia was less common than generally thought (1.3 per 100,000), while osteogenesis imperfecta (21.8), multiple epiphyseal dysplasia tarda (9.0), achondrogenesis (6.4), osteopetrosis (5.1), and thanatophoric dysplasia (3.8) were found to be more frequent. Stoll et al. (1989) found a mutation rate of 3.3 x 10(-5) per gamete per generation. In Spain, Martinez-Frias et al. (1991) found a frequency of achondroplasia of 2.53 per 100,000 live births. Total prevalence of autosomal dominant malformation syndromes was 12.1 per 100,000 live births. *FIELD* HI It is of historic interest that Weinberg (1912), of Hardy-Weinberg law fame, noted in the data collected by Rischbieth and Barrington that sporadic cases were more often last-born than first-born. *FIELD* SA See also: Beighton and Bathfield (1981); Cohen et al. (1967); Durr (1968); Fremion et al. (1984); Hall et al. (1979); Maroteaux and Lamy (1964); Morch (1941); Morgan and Young (1980); Murdoch et al. . (1970); Oberklaid et al. (1979); Opitz (1984); Pauli et al. (1983, 1984); Penrose (1957); Pyeritz et al. (1987); Rimoin et al. (1970); Siebens et al. (1978). *FIELD* RF Andersen, P. E., Jr. and Hauge, M.: Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. J. Med. Genet. 26: 37-44, 1989. Aterman, K.; Welch, J. P.; and Taylor, P. G.: Presumed homozygous achondroplasia: a review and report of a further case. Path. Res. Pract. 178: 27-39, 1983. Beighton, P. and Bathfield, C. A.: Gibbal achondroplasia. J. Bone Joint Surg. 63: 328-329, 1981. Beighton, P.; Sujansky, E.; Patzak, B.; and Portele, K. A.: Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. Am. J. Med. Genet. 47: 843-847, 1993. Bowen, P.: Achondroplasia in two sisters with normal parents. Birth Defects Orig. Art. Ser. X(12): 31-36, 1974. Chiari, H.: Ueber familiaere Chondrodystrophia foetalis. Muenchen. Med. Wschr. 60: 248-249, 1913. Clermont, Y.: Renewal of spermatogonia in man. Am. J. Anat. 118: 509- 524, 1966. Cohen, M. E.; Rosenthal, A. D.; and Matson, D. D.: Neurological abnormalities in achondroplastic children. J. Pediat. 71: 367-376, 1967. Cohn, S. and Weinberg, A.: Identical hydrocephalic achondroplastic twins. Subsequent delivery of single sibling with same abnormality. Am. J. Obstet. Gynec. 72: 1346-1348, 1956. Dennis, J. P.; Rosenberg, H. S.; and Alvord, E. C., Jr.: Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. Brain 84: 427-445, 1961. Dodinval, P. and Le Marec, B.: Genetic counselling in unexpected familial recurrence of achondroplasia. Am. J. Med. Genet. 28: 949- 954, 1987. Durr, D. K.: Eine neue Dysostoseform mit Mikromelie bei zwei Geschwistern. Helv. Paediat. Acta 23: 184-194, 1968. Edwards, J. H.; Huson, S.; and Ponder, B.: Neurofibromatosis. (Letter). Lancet II: 330 only, 1988. Eng, C. E. L.; Pauli, R. M.; and Strom, C. M.: Nonrandom association of a type II procollagen. genotype with achondroplasia. Proc. Nat. Acad. Sci. 82: 5465-5469, 1985. Eng, C. E. L.; Pauli, R. M.; and Strom, C. M.: Nonrandom association of a type II procollagen genotype with achondroplasia. Proc. Nat. Acad. Sci. 83: 5354 only, 1986. Retraction. Finkelstein, J. E.; Doege, K.; Yamada, Y.; Pyeritz, R. E.; Graham, J. M., Jr.; Moeschler, J. B.; Pauli, R. M.; Hecht, J. T.; and Francomano, C. A.: Analysis of the chondroitin sulfate proteoglycan core protein (CSPGP) gene in achondroplasia and pseudoachondroplasia. Am. J. Hum. Genet. 48: 97-102, 1991. Fitzsimmons, J. S.: Familial recurrence of achondroplasia. Am. J. Med. Genet. 22: 609-613, 1985. Francomano, C. A.; Ortiz de Luna, R. I.; Hefferon, T. W.; Bellus, G. A.; Turner, C. E.; Taylor, E.; Meyers, D. A.; Blanton, S. H.; Murray, J. C.; McIntosh, I.; and Hecht, J. T.: Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum. Molec. Genet. in press: 1994. Francomano, C. A. and Pyeritz, R. E.: Achondroplasia is not caused by mutation in the gene for type II collagen. Am. J. Med. Genet. 29: 955 -961, 1988. Fremion, A. S.; Garg, B. P.; and Kalsbeck, J.: Apnea as the sole manifestation of cord compression in achondroplasia. J. Pediat. 104: 398-401, 1984. Fryns, J. P.; Kleczkowska, A.; Verresen, H.; and van den Berghe, H.: Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Clin. Genet. 24: 156-158, 1983. Gardner, R. J. M.: A new estimate of the achondroplasia mutation rate. Clin. Genet. 11: 31-38, 1977. Hall, J. G.: The natural history of achondroplasia. In Nicoletti, B.; Kopits, S. E.; Ascani, E.; and McKusick, V. A. (eds.): Human Achondroplasia: A Multidisciplinary Approach. New York: Plenum Press. 1988. Pp. 3-10. Hall, J. G.; Dorst, J. P.; Taybi, H.; Scott, C. I., Jr.; Langer, L. O., Jr.; and McKusick, V. A.: Two probable cases of homozygosity for the achondroplasia gene. Birth Defects Orig. Art. Ser. V(4): 24-34, 1969. Hall, J. G.; Go. lbus, M. S.; Graham, C. B.; Pagon, R. A.; Luthy, D. A.; and Filly, R. A.: Failure of early prenatal diagnosis in classic achondroplasia. Am. J. Med. Genet. 3: 371-375, 1979. Hall, J. G.; Horton, W.; Kelly, T.; and Scott, C. I.: Head growth in achondroplasia: use of ultrasound studies. (Letter). Am. J. Med. Genet. 13: 105 only, 1982. Hecht, J. T.; Hood, O. J.; Schwartz, R. J.; Hennessey, J. C.; Bernhardt, B. A.; and Horton, W. A.: Obesity in achondroplasia. Am. J. Med. Genet. 31: 597-602, 1988. Hecht, J. T.; Thompson, N. M.; Weir, T.; Patchell, L.; and Horton, W. A.: Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates. Am. J. Hum. Genet. 41: 208-211, 1991. Horton, W. A. and Hecht, J. T.: The chondrodysplasias. In Royce, P. M. and Steinmann, B. (eds.): Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects. New York: Wiley- Liss. 1993. Pp. 641-675. Horton, W. A.; Hecht, J. T.; Hood, O. J.; Marshall, R. N.; Moore, W. V.; and Hollowell, J. G.: Growth hormone therapy in achondroplasia. Am. J. Med. Genet. 42: 667-670, 1992. Horton, W. A.; Hood, O. J.; Machado, M. A.; and Campbell, D.: Growth plate cartilage studies in achondroplasia. In Nicoletti, B.; Kopits, S. E.; Ascani, E.; and McKusick, V. A. (eds.): Human Achondroplasia: A Multidisciplinary Approach. New York: Plenum Press. 1988. Pp. 81- 89. Horton, W. A.; Rotter, J. I.; Rimoin, D. L.; Scott, C. L.; and Hall, J. G.: Standard growth curves for achondroplasia. J. Pediatr. 93: 435 -438, 1978. Hoo, J. J.: Alternative explanations for recurrent achondroplasia in siblings with normal parents. Clin. Genet. 25: 553-554, 1984. Korenberg, J. R.; Barker, D.; Fain, P.; Graham, J.; Pribyl, T.; and Pulst, S.-M.: Achondroplasia is not tightly linked to the locus for neurofibromatosis 1. (Abstract). Cytogenet. Cell Genet. 51: 1025 only, 1989. Langer, L. O., Jr.; Baumann, P. A.; and Gorlin, R. J.: Achondroplasia. Am. J. Roentgen. 100: 12-26, 1967. Le. Merrer, M.; Rousseau, F.; Legeai-Mallet, L.; Landais, J.-C.; Pelet, A.; Bonaventure, J.; Sanak, M.; Weissenbach, J.; Stoll, C.; Munnich, A.; and Maroteaux, P.: A gene for achondroplasia-- hypochondroplasia maps to chromosome 4p. Nature Genet. 6: 314-317, 1994. Maroteaux, P. and Lamy, P.: Achondroplasia in man and animals. Clin. Orthop. 33: 91-103, 1964. Martinez-Frias, M. L.; Cereijo, A.; Bermejo, E.; Lopez, M.; Sanchez, M.; and Gonzalo, C.: Epidemiological aspects of mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes. Am. J. Med. Genet. 38: 622-625, 1991. McKusick, V. A.; Kelly, T. E.; and Dorst, J. P.: Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J. Med. Genet. 10: 11-16, 1973. Morch, E. T.: Chondrodystrophic dwarfs in Denmark. Op. Ex Domo Biol. Hered. Hum. U. Hafniensis. 3: 1941. Morgan, D. F. and Young, R. F.: Spinal neurological complications of achondroplasia: results of surgical treatment. J. Neurosurg. 52: 463- 472, 1980. Murdoch, J. L.; Walker, B. A.; Hall, J. G.; Abbey, H.; Smith, K. K.; and McKusick, V. A.: Achondroplasia--a genetic and statistical survey. Ann. Hum. Genet. 33: 227-244, 1970. Nelson, F. W.; Hecht, J. T.; Horton, W. A.; Butler, I. J.; Goldie, W. D.; and Miner, M.: Neurological basis of respiratory complications in achondroplasia. Ann. Neurol. 24: 89-93, 1988. Nicoletti, B.; Kopits, S. E.; Ascani, E.; and McKusick, V. A. (eds.): Human Achondroplasia: A Multidisciplinary Approach. New York: Plenum Press. 1988. Pp. 3-9. Oberklaid, F.; Danks, D. M.; Jensen, F.; Stace, L.; and Rosshandler, S.: Achondroplasia and hyperchondroplasia: comments on frequency, mutation rate, and radiological features in skull and spine. J. Med. Genet. 16: 140-146, 1979. Ogilvie, D.; Wordsworth, P.; Thompson, E.; and Sykes, B.: Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. J. Med. Genet. 23: 19-22, 1986. Opitz. , J. M.: 'Unstable premutation' in achondroplasia: penetrance vs phenotrance. (Editorial). Am. J. Med. Genet. 19: 251-254, 1984. Orioli, I. M.; Castilla, E. E.; and Barbosa-Neto, J. G.: The birth prevalence rates for the skeletal dysplasias. J. Med. Genet. 23: 328- 332, 1986. Pauli, R. M.; Conroy, M. M.; Langer, L. O., Jr.; McLone, D. G.; Naidich, T.; Franciosi, R.; Ratner, I. M.; and Copps, S. C.: Homozygous achondroplasia with survival beyond infancy. Am. J. Med. Genet. 16: 459-473, 1983. Pauli, R. M.; Scott, C. I.; Wassman, E. R., Jr.; Gilbert, E. F.; Leavitt, L. A.; Ver Hoeve, J.; Hall, J. G.; Partington, M. W.; Jones, K. L.; Sommer, A.; Feldman, W.; Langer, L. O.; Rimoin, D. L.; Hecht, J. T.; and Lebovitz, R.: Apnea and sudden unexpected death in infants with achondroplasia. J. Pediat. 104: 342-348, 1984. Penrose, L. S.: Parental age and mutation. Lancet II: 312-313, 1955. Penrose, L. S.: Parental age in achondroplasia and mongolism. Am. J. Hum. Genet. 9: 167-169, 1957. Philip, N.; Auger, M.; Mattei, J. F.; and Giraud, F.: Achondroplasia in sibs of normal parents. J. Med. Genet. 25: 857-859, 1988. Pierre-Kahn, A.; Hirsch, J. F.; Renier, D.; Metzger, J.; and Maroteaux, P.: Hydrocephalus and achondroplasia: a study of 25 observations. Child's Brain 7: 205-219, 1980. Pulst, S.-M.; Graham, J. M., Jr.; Fain, P.; Barker, D.; Pribyl, T.; and Korenberg, J. R.: The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. Hum. Genet. 85: 12- 14, 1990. Pyeritz, R. E.; Sack, G. H., Jr.; and Udvarhelyi, G. B.: Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am. J. Med. Genet. 28: 433-444, 1987. Randolph, L. M.; Shohat, M.; Miller, D.; Lachman, R.; and Rimoin, D. L.: Achondroplasia with ankylosing spondylitis. Am. J. Med. Genet. 31: 117-121, 1988. Reiser, C. A.; Pauli, R. M.; and Hall, J. G.: Achondroplasia: unexpected familial recurrence. Am. J. Med. Genet. 19: 245-250, 1984. Rimoin, D. L.; Hugh. es, G. N.; Kaufman, R. L.; Rosenthal, R. E.; McAlister, W. H.; and Silberberg, R.: Endochondral ossification in achondroplastic dwarfism. New Eng. J. Med. 283: 728-735, 1970. Siebens, A. A.; Hungerford, D. S.; and Kirby, N. A.: Curves of the achondroplastic spine: a new hypothesis. Johns Hopkins Med. J. 142: 205-210, 1978. Sommer, A.; Young-Wee, T.; and Frye, T.: Achondroplasia- hypochondroplasia complex. Am. J. Med. Genet. 26: 949-957, 1987. Stanescu, R.; Stanescu, V.; and Maroteaux, P.: Homozygous achondroplasia: morphologic and biochemical study of cartilage. Am. J. Med. Genet. 37: 412-421, 1990. Stoll, C.; Dott, B.; Roth, M.-P.; and Alembik, Y.: Birth prevalence rates of skeletal dysplasias. Clin. Genet. 35: 88-92, 1989. Stoll, C.; Roth, M.-P.; and Bigel, P.: A reexamination of parental age effect on the occurrence of new mutations for achondroplasia. In Papadatos, C. J. and Bartsocas, C. S. (eds.): Skeletal Dysplasias. New York: Alan R. Liss. 1982. Pp. 419-426. Strom, C. M.: Achondroplasia due to DNA insertion into the type II collagen gene. (Abstract). Pediat. Res. 18: 226A only, 1984. Thompson, J. N., Jr.; Schaefer, G. B.; Conley, M. C.; and Mascie- Taylor, C. G. N.: Achondroplasia and parental age. (Letter). New Eng. J. Med. 314: 521-522, 1986. Velinov, M.; Slaugenhaupt, S. A.; Stoilov, I.; Scott, C. I., Jr.; Gusella, J. F.; and Tsipouras, P.: The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nature Genet. 6: 318-321, 1994. Verloes, A.; Massart, B.; Jossa, V.; Langhendries, J. P.; Hainaut, H.; Paquot, J. P.; and Koulischer, L.: Neuroblastoma in a dwarfed newborn: possible clue to the chromosomal localization of the gene for achondroplasia? Ann. Genet. 34: 25-26, 1991. Wadia, R.: Achondroplasia in two first cousins. Birth Defects Orig. Art. Ser. V(4): 227-230, 1969. Wallace, D. C.; Exton, L. A.; Pritchard, D. A.; Leung, Y.; and Cooke, R. A.: Severe achondroplasia: demonstration of probable heterogeneity within this clinical. syndrome. J. Med. Genet. 7: 22-26, 1970. Weinberg, W.: Zur Vererbung des Zwergwuchses. Arch. Rass.-u. Ges. Biol. 9: 710-717, 1912. Yang, S. S.; Corbett, D. P.; Brough, A. J.; Heidelberger, K. P.; and Bernstein, J.: Upper cervical myelopathy in achondroplasia. Am. J. Clin. Path. 68: 68-72, 1977. Young, I. D.; Ruggins, N. R.; Somers, J. M.; Zuccollo, J. M.; and Rutter, N.: Lethal skeletal dysplasia owing to a double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. J. Med. Genet. 29: 831-833, 1992. *FIELD* CS Skel: Osteochondrodysplasia. Growth: Short-limb dwarfism identifiable at birth. Mean male adult height: 131 cm. Mean female height: 124 cm. Obesity. Head: Frontal bossing. Megalencephaly. Facies: Midfacial hypoplasia. Low nasal bridge. Eyes: Strabismus. Ears: Conductive or sensorineural hearing loss. Recurrent otitis media in infancy and childhood. Resp: Respiratory insufficiency. Upper airway obstruction . Spine: Lumbar gibbus in infancy. Exaggerated lumbar lordosis during childhood and adulthood. Joints: Limited elbow and hip extension. Limbs: Trident hand. Brachydactyly. Limited extension at elbows. Genu varum. Bowleg. Rhizomelia. Neuro: Hydrocephalus occasional. Mild hypotonia in infancy and early childhood. Lumbar spinal stenosis common. Occasional thoracic or cervical spinal stenosis. Radiculopathy. Brain stem compression. Misc: Paternal age mutation effect. Radiology: Cuboidal vertebral bodies. Progressive lumbar interpeduncular narrowing after first year. Vertebral canal narrows in cranio-caudal direction. Notch-like sacroiliac groove. . Metaphyseal flaring. Circumflex or chevron seated epiphyseal ossification centers on the metaphysis. Short narrow femoral neck. Vertebral scalloping. Wide intervertebral discs. Foraminal narrowing. Flat roofed acetabula. Small foramen magnum. Short cranial base. Early sphenooccipital closure. Inheritance: Autosomal dominant with complete penetrance; most (7/8) cases new mutations. *FIELD* OLDNO 10080 *FIELD* ED Last: 94/3/23 pfoster: 94/3/23 steinman: 94/2/4 carol: 94/3/16 mimadm: 94/3/15 --------------------- _______________________________________________________________________________ A. Jamie Cuticchia, Ph.D. Assistant Professor of Medical Genetics Director of Data Acquisition and Curation Operations, Genome Data Base _______________________________________________________________________________ Johns Hopkins University School of Medicine 2024 E. Monument Street, Baltimore MD 21205 (410) 614-0438 Phone (410) 614-0434 Fax jamie@gdb.org ________________________________________________________________________________ From owner-chromosomes@net.bio.net Tue Mar 29 23:00:00 1994 Path: biosci!MED.PITT.EDU!rapr From: rapr@MED.PITT.EDU (Robert Preston) Newsgroups: bionet.genome.chromosomes Subject: Genethon map help, chromo. 7 Date: 30 Mar 1994 07:49:18 -0800 Organization: BIOSCI International Newsgroups for Molecular Biology Lines: 12 Sender: daemon@net.bio.net Distribution: bionet Message-ID: <9403301549.AA02630@deimos.med.pitt.edu> NNTP-Posting-Host: net.bio.net Net-people, does anyone have the map of Genethon microsatellites for human chromosome seven that could be e-mailed to me, since the Genethon mail-server appears to have died. Or, if easier to list just a few markers, I specifically need the markers lying between D7S513 and D7S516 on 7p, or even a reference that would give the map in that region (I need the markers that were added to the set AFTER Weissenbach et al Nature 1992 paper) Thanks much for any help. Robert A. Preston UPMC Pathology rapr@med.pitt.edu From owner-chromosomes@net.bio.net Wed Mar 30 23:00:00 1994 Path: biosci!daresbury!trane.uninett.no!sunic!pipex!howland.reston.ans.net!usenet.ins.cwru.edu!cleveland.Freenet.Edu!ep405 From: ep405@cleveland.Freenet.Edu (Russell B. Weiser) Newsgroups: bionet.genome.chromosomes Subject: Species' Genomes Date: 31 Mar 1994 21:00:54 GMT Organization: Case Western Reserve University, Cleveland, Ohio (USA) Lines: 11 Message-ID: <2nfdm6$c7j@usenet.INS.CWRU.Edu> NNTP-Posting-Host: piglet.ins.cwru.edu Can Anybody out there either post or E-mail me a copy of the most recent genome project for any animal (preferably the human genome or the cat genome). We're learning about genetics in school and I'd like a copy if there's one out there. Thanx. By the way (BTW), a while back, I saw a segment on some news broadcast where everybody in this one town was happy and "content with their lot". Some scientists thought that it might have some- thing to do with a "magic gene" or a "mystery gene" or something like that. Has anyone else heard anything? XVR27 From owner-chromosomes@net.bio.net Wed Mar 30 23:00:00 1994 Path: biosci!mii.lu.lv!mahinovs From: mahinovs@mii.lu.lv (Jurijs Mahinovs) Newsgroups: bionet.genome.chromosomes Subject: HELP Date: 31 Mar 1994 01:21:54 -0800 Organization: BIOSCI International Newsgroups for Molecular Biology Lines: 1 Sender: daemon@net.bio.net Distribution: bionet Message-ID: <199403310922.AA14271@circenis.mii.lu.lv> NNTP-Posting-Host: net.bio.net HELP From owner-chromosomes@net.bio.net Thu Mar 31 23:00:00 1994 Path: biosci!agate!howland.reston.ans.net!usenet.ins.cwru.edu!cleveland.Freenet.Edu!eh981 From: eh981@cleveland.Freenet.Edu (Steve Babienco) Newsgroups: bionet.genome.chromosomes Subject: Breast CA research at UMich Date: 1 Apr 1994 04:42:25 GMT Organization: Case Western Reserve University, Cleveland, Ohio (USA) Lines: 2 Message-ID: <2ng8nh$jsu@usenet.INS.CWRU.Edu> NNTP-Posting-Host: kanga.ins.cwru.edu I am interested in contacting a Dr. Webber at the University of Michigan. I understand that she is conducting research attempting to locate the gene for breast cancer. If an E-mail address is known it would be appreciated.