Human Molecular Genetics, Vol 8, 337-343, Copyright © 1999 by Oxford University Press
C Farber, B Dittrich, K Buiting and B Horsthemke
Imprinting of the Prader-Willi/Angelman syndrome region on human chromosome
15 is regulated by an imprinting centre (IC), which spans 5' exons of the
gene encoding the small nuclear ribonucleoprotein N ( SNRPN ). The IC/
SNRPN transcripts are initiated at two alternative start sites, which share
a high degree of sequence similarity with each other and with two newly
identified sites 63 and >700 kb further upstream. Three of these sites
are hypermethylated on the maternal chromosome, whereas one displays an
oppositemethylation pattern. We have also identified novel splice variants
of the IC/ SNRPN transcripts and hitherto undetected exons. One of these
exons, which we designate u5, is deleted in all Angelman syndromepatients
with a microdeletion of the IC. We conclude that elements of the IC region
have undergone multiple duplication events and that u5 or a sequence close
by may play a role in maternal imprinting.
ARTICLES
The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany.
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