title: The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity.
abstract: Human C1r is a component of the complement system, which is a major mediator of innate immunity. In this study we investigated the exon-intron organization of the human C1R gene, which spans 11 kb from the initiation codon to the stop codon, and is very similar in exon-intron structure to the C1S gene. Six common and rare alleles, C1R*1, C1R*2, C1R*5, C1R*8, C1R*9, and C1R*13, were characterized by five mutations at amino acid positions 114, 135, 146, 167 and 244, in exons 4, 5 and 7 where the CUB1, EGF and CUB2 domains are encoded, respectively. A comparison with the cDNA of the mouse C1r gene showed that C1R*2is likely to be an ancestral allele. In addition, nine nucleotide substitutions and one length polymorphism were found in introns 2, 3, 4, 8 and 10.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683-8503, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: Y
authors.initials: Y
authors.lastname: Irizawa
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D015923:Complement C1r / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D015923:Complement C1r