title: Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15.
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.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, Essen, D-45122, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Färber
authors.forename: S
authors.initials: S
authors.lastname: Gross
authors.forename: J
authors.initials: J
authors.lastname: Neesen
authors.forename: K
authors.initials: K
authors.lastname: Buiting
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D000951:Antigens, Neoplasm; D001324:Autoantigens / Q000235:genetics; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003001:Cloning, Molecular; D017124:Conserved Sequence; D018899:CpG Islands; D019175:DNA Methylation; D019143:Evolution, Molecular; D005220:Fathers; D015870:Gene Expression; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear; D017422:Sequence Analysis, DNA; D020079:Terminal Repeat Sequences; D013737:Testis / Q000378:metabolism*; D014157:Transcription Factors / Q000235:genetics; D014158:Transcription, Genetic; D044767:Ubiquitin-Protein Ligases; D055517:snRNP Core Proteins; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D020413:3' Untranslated Regions; D000951:Antigens, Neoplasm; D001324:Autoantigens; D009687:Nuclear Proteins; D011506:Proteins; D017411:Ribonucleoproteins, Small Nuclear; D014157:Transcription Factors; D044767:Ubiquitin-Protein Ligases; D055517:snRNP Core Proteins; C510822:MAGEL2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins; C403091:Magel2 protein, mouse; C114070:RNF4 protein, human; C526417:SNRPN protein, human; C486410:Rnf4 protein, mouse