Article
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells.
Journal of human genetics - 1 Jan 2005
Haruta Masayuki, Meguro Makiko, Sakamoto Yu-Ki, Hoshiya Hidetoshi, Kashiwagi Akiko, Kaneko Yasuhiko, Mitsuya Kohzoh, Oshimura Mitsuo
Abstract excerpt
Human chromosome 15q11-q13 involves a striking imprinted gene cluster of more than 2 Mb that is concomitant with multiple neurological disorders manifested by Prader-Willi syndrome (PWS) and Angelman syndrome (AS). PWS and AS patients with imprinting mutation have microdeletions, which share a 4.3 kb short region of overlap (SRO) at the 5' end of the paternal SNURF-SNRPN gene in PWS, or on the maternal allele,...
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