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- Title
A missense mutation (c.1963A<G) of the complementary component 2 ( C2) gene is associated with serum Ca concentrations in pigs.
- Authors
Lee, Jae-Bong; Yoo, Chae-Kyoung; Jung, Eun-Ji; Hwang, Jung-Hye; Seo, Bo-Young; Kim, Byeong-Woo; Lim, Hyun-Tae; Lee, Jung-Gyu; Cho, In-Cheol; Park, Hee-Bok
- Abstract
Serum Ca levels play important roles in the humoral immunity. The aim of this study was to detect quantitative trait loci and the associated positional candidate genes affecting baseline serum Ca concentrations. A genome-wide association study was conducted in an F intercross population between Landrace and Korean native pigs using the porcine single nucleotide polymorphism (SNP) 60 K beadchip and the PLINK program based on linear regression. Data used in the study included 410 F pigs. All experimental animals were genotyped with 36,613 SNP markers located throughout the pig autosomes. We identified a strong association between a SNP marker on chromosome 7 and serum Ca levels (DIAS0002191, genomic control-corrected P = 7.7 × 10). The position of DIAS0002191 was closely located to SLA class III region containing the C2 gene encoding the complementary component 2 protein, a protein which is important in the humoral immune responses. De novo sequencing of the porcine C2 gene revealed a missense mutation [c.1963A<G (N655D)] and this missense mutation was also strongly associated with serum Ca concentrations (genomic control-corrected P = 5.9 × 10). Further studies are necessary to investigate the effect of this missense mutation at a functional-molecular level. In conclusion, the missense mutation of the C2 gene identified in this study may help in elucidating the genetic factors underlying humoral immune reactions.
- Subjects
MISSENSE mutation; CALCIUM in the body; SWINE; CHROMOSOMES; REGRESSION analysis; MEDICAL genetics
- Publication
Molecular Biology Reports, 2012, Vol 39, Issue 10, p9291
- ISSN
0301-4851
- Publication type
Article
- DOI
10.1007/s11033-012-1679-8