Prader-Willi question

Lew Jacobson ljac at vms.cis.pitt.edu
Tue Mar 5 14:25:00 EST 1996


There is some literature claiming that PW is related to a disorder of 
serotonin metabolism (refs in MEDLINE). 

The genetics makes a complex and inconclusive story. PW can be caused by 
either uniparental disomy (maternal genes in region inactivated by 
genomic imprinting) or by paternal deletion on chrom. 15 in same region. 
The search for the gene thus involves (a) a maternally imprinted 
(methylated) gene within (b) the region defined by various paternal 
deletions in different patients. Some investigators also insist on 
brain-specific expression of the gene of interest. Last time I looked 
there was no conclusive answer, but about 5-6 candidate genes. There was 
an unidentified ORF and a presumptive brain-specific snRNP.

     _/       _/_/_/_/   _/_/_/_/_/       Lew Jacobson
    _/       _/    _/       _/            Dept. Biol. Sci.
   _/       _/_/_/_/       _/             Univ. of Pittsburgh
  _/       _/    _/  _/   _/              LJAC at vms.cis.pitt.edu
 _/_/_/_/ _/    _/ _/_/_/_/





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