Prader_willi Genome information

James S. Sutcliffe jamess at mbcr.bcm.tmc.edu
Fri May 20 13:52:44 EST 1994


In article <2rin91$ms5 at news1.digex.net>, sdoyle at cadillac.digex.net writes:
|> 
|> Could someone point me in the right direction for genetic info on Prader-Willi
|> syndrome.
|> 
|> How about chromosonal defects.
|> 
|> Sean Doyle
|> sdoyle at cadillac.digex.net
|> 

Sean,

Prader-Willi syndrome is caused by genetic deficiency in chromosomal region
15q11-q13. The deficiency can result from a deletion of the
paternally-derived chromosome or uniparental disomy for the maternally-derived
chromosome (2 copies of maternal 15).

Several groups (including ours) are doing molecular genetic studies on this
region to identify genes which may be involved in this disorder. There is
currently one published candidate gene: the gene encoding the small nuclear
ribonucleoprotein-associated polypeptide N (SNRPN). 

While deficiency of a paternal 15q11-q13 results in Prader-Willi syndrome,
deficiency in the maternal chromosome for the same region gives rise to
another disorder termed Angelman syndrome. This indicates that PWS is caused
by a loss of paternally-expressed genes and AS is caused by a loss of
maternally expressed gene(s).

Please e-mail me if you would like additional information. Hope this helps.

**********************************************
* James S. Sutcliffe, Ph.D.                  *
* Howard Hughes Medical Institute            *
* Department of Molecular and Human Genetics *
* Baylor College of Medicine                 *
* Houston, TX 77030                          *
*                                            *
* Tel: 713-798-4396/4795                     * 
* Fax: 713-797-6718                          *
* internet: jamess at bcm.tmc.edu               *
**********************************************



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