title: Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9.
abstract: 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. C8orf2 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 expressed ubiquitously in human tissues. The gene encoded 339-and 152-amino acid polypeptides by alternative splicing; the larger variant contained a region extremely rich in charged amino acids, in particular lysine and glutamic acid. C8orf2 also bore sequence homology to the human KE04p gene. Its conservation among highly divergent species suggests that C8orf2 belongs to a novel gene family.
authors.affiliation: Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Minato-ku, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Ikegawa
authors.forename: M
authors.initials: M
authors.lastname: Isomura
authors.forename: Y
authors.initials: Y
authors.lastname: Koshizuka
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D017173:Caenorhabditis elegans / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003001:Cloning, Molecular; D006801:Humans; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D009928:Organ Specificity / Q000235:genetics; D010455:Peptides / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: C121703:ERLIN2 protein, human; D008565:Membrane Proteins; D010455:Peptides