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1: Ann Hum Genet. 2003 May;67(Pt 3):207-15.Click here to read Links

The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity.

Nakagawa M, Yuasa I, Irizawa Y, Umetsu K.

Division of Legal Medicine, Faculty of Medicine, Tottori University, 86 Nishimachi, Yonago 683-8503, Japan.

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.

PMID: 12914573 [PubMed - indexed for MEDLINE]