Molecular Human Reproduction, Vol 3, 321-332, Copyright © 1997 by Oxford University Press
CC Glenn, DJ Driscoll, TP Yang and RD Nicholls
The Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically
distinct syndromes which result from lack of expression of imprinted genes
within chromosome 15q11-q13. These two syndromes result from 15q11-q13
deletions, chromosome 15 uniparental disomy (UPD), imprinting centre
mutations and, for AS, probable mutations in a single gene. The
differential phenotype results from a paternal genetic deficiency in PWS
patients and a maternal genetic deficiency in AS patients. Within
15q11-q13, four genes (SNRPN, IPW, ZNF127, FNZ127) and two expressed
sequence tags (PAR1 and PAR5) have been found to be expressed only from the
paternally inherited chromosome, and therefore all must be considered
candidate genes involved in the pathogenesis of PWS. A candidate AS gene
(UBE3A) has very recently been identified. The mechanisms of imprinted gene
expression are not yet understood, but it is clear that DNA methylation is
involved in both somatic cell expression and inheritance of the imprint.
The presence of DNA methylation imprints that distinguish the paternally
and maternally inherited alleles is a common characteristic of all known
imprinted genes which have been studied extensively, including SNRPN and
ZNF127. Recently, several PWS and AS patients have been found that have
microdeletions in a region upstream of the SNRPN gene referred to as the
imprinting centre, or IC. Paternal IC deletions in PWS patients and
maternal IC deletions in AS patients result in uniparental DNA methylation
and uniparental gene expression at biparentally inherited loci. The IC is a
novel genetic element which controls initial resetting of the parental
imprint in the germline for all imprinted gene expression over a 1.5-2.5 Mb
region within chromosome 15q11-q13.
REVIEW, ACADEMIC
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes
Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville 32610, USA.
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