The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.
C15orf2 (Chromosome 15 open reading frame 2) is an intronless gene, which is located in the Prader-Willi syndrome (PWS) chromosomal region on human chromosome 15. Mice do not have an orthologous gene. Here we show that expression of C15orf2 in the fetal human brain is imprinted. Using Western blot and immunohistological studies we have obtained evidence that C15orf2 protein is present in several regions of the brain. Previously published phylogenetic studies as well as population genetic studies based on complex haplotypes as described here suggest that C15orf2 is under positive Darwinian selection. These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to PWS.
Wawrzik
Michaela
M
Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
Unmehopa
Unga Arifa
UA
Swaab
Dick Frans
DF
van de Nes
Johannes
J
Buiting
Karin
K
Horsthemke
Bernhard
B
D000483:Alleles; D000818:Animals; D002460:Cell Line; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D018392:Genomic Imprinting; D006239:Haplotypes; D006801:Humans; D007031:Hypothalamus / Q000166:cytology / Q000378:metabolism; D051379:Mice; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D028861:Nuclear Pore Complex Proteins; D016366:Open Reading Frames; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012641:Selection, Genetic
C550773:NPAP1 protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D012333:RNA, Messenger