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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