期刊
NATURE GENETICS
卷 40, 期 6, 页码 719-721出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.158
关键词
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资金
- NCRR NIH HHS [M01 RR000188-447797, M01 RR000188, RR-019478, U54 RR019478-05S16956, U54 RR019478, M01-RR00188] Funding Source: Medline
- NICHD NIH HHS [HD-024064, P30 HD024064, HD-037283, R01 HD037283, R01 HD037283-10] Funding Source: Medline
Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.
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