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- W2070204443 abstract "Prader–Willi syndrome (PWS) results from the loss of paternal contributions for a 2-Mb imprinted region on the proximal long arm of human chromosome 15. Hitherto, five paternally active genes have been identified in this region (ZNF127, NDN, MAGEL2, SNURF–SNRPN, and IPW). Here we report the identification of a novel gene in the PWS critical region, which has been designated “chromosome 15 open reading frame 2” (C15orf2). C15orf2 is an intronless gene located between MAGEL2 and SNURF–SNRPN. It is associated with a CpG island, which is methylated in all tissues tested except for germ cells. C15orf2 is transcribed as a 7.5-kb mRNA and contains an open reading frame encoding a predicted 1156-amino-acid protein of unknown function. Transcription of C15orf2 occurs exclusively in the testis, and in adult testis samples, we observed biallelic expression. By zoo-blot analysis, we found related sequences in DNA from other primates, but not in nonprimate DNA. We conclude that C15orf2 may play a role in primate spermatogenesis." @default.
- W2070204443 created "2016-06-24" @default.
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- W2070204443 date "2000-04-01" @default.
- W2070204443 modified "2023-09-26" @default.
- W2070204443 title "Identification of a Testis-Specific Gene (C15orf2) in the Prader–Willi Syndrome Region on Chromosome 15" @default.
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- W2070204443 doi "https://doi.org/10.1006/geno.2000.6158" @default.
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