Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C-elegans C42.C1.9

Large-scale sequencing of selected genomic regions, coupled with in silico gene trapping, is a robust approach to identifying previously unknown genes . In this way we have found a gene (C8orf2) that is highly homologous to C. elegans C42C1.9. C80rf2 was situated on 8p11.2 between STS markers NIB1979 (proximal) and AFMA295ZD5 (distal), oriented toward the centromere. C8orf2 consisted of 16 exons spanning more than 16.5 kb of genomic DNA, and was e xpressed ubiquitously in human tissues. The gene encoded 339-and 152-amino acid polypeptides by alternative splicing; the larger variant contained a r egion extremely rich in charged amino acids, in particular lysine and gluta mic acid. C80rf2 also bore sequence homology to the human KE04p gene. Its c onservation among highly divergent species suggests that C8orf2 belongs to a novel gene family.