Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

The imprinted SNRPN locus is a complex transcriptional unit that encodes the SNURF and SmN polypeptides as well as multiple non-coding RNAs. SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that contains multiple imprinted genes, which are coordinately regulated by a bipartite imprinting center (IC). The SNRPN 5' region co-localizes with the PWS-IC and contains two...

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Regulation of the large (*1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn

Most cases of Angelman syndrome (AS) result from loss or inactivation of ubiquitin protein ligase 3A (UBE3A), a gene displaying maternal-specific expression in brain. Epigenetic silencing of the paternal UBE3A allele in brain appears to be mediated by a non-coding UBE3A antisense (UBE3A-ATS). In human, UBE3A-ATS extends 450 kb to UBE3A from the small nuclear ribonucleoprotein N (SNURF/ SNRPN ) ...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2005

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/gki786