C. Farber et al., Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15, GENOMICS, 65(2), 2000, pp. 174-183
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 1
5. Hitherto,five paternally active genes have been identified in this regio
n (ZNF127, NDN, MAGEL2, SNURF-SNRPN, and IPW). Here we report the identific
ation of a novel gene in the PWS critical region, which has been designated
"chromosome 15 open reading frame 2" (C15orf2). C15orf2 is an intronless g
ene located between MAGEL2 and SNURF-SNRPN. It is associated with a CpG isl
and, which is methylated in all tissues tested except for germ cells. C15or
f2 is transcribed as a 7.5-kb mRNA and contains an open reading frame encod
ing a predicted 1156-amino-acid protein of unknown function. Transcription
of C15orf2 occurs exclusively in the testis, and in adult testis samples, w
e observed biallelic expression. By zoo-blot analysis, we found related seq
uences in DNA from other primates, but not in nonprimate DNA. We conclude t
hat C15orf2 may play a role in primate spermatogenesis. (C) 2000 Academic P
ress.