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通过连锁分析和全基因组关联研究鉴定出的猪皮肤厚度的三个新数量性状位点。

Three novel quantitative trait loci for skin thickness in swine identified by linkage and genome-wide association studies.

作者信息

Ai Huashui, Xiao Shijun, Zhang Zhiyan, Yang Bin, Li Lin, Guo Yuanmei, Lin Guoshan, Ren Jun, Huang Lusheng

机构信息

Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China, Jiangxi Agricultural University, 330045, Nanchang, China.

出版信息

Anim Genet. 2014 Aug;45(4):524-33. doi: 10.1111/age.12163. Epub 2014 May 5.

DOI:10.1111/age.12163
PMID:24796629
Abstract

Skin is the largest organ in the pig body and plays a key role in protecting the body against pathogens and excessive water loss. Deciphering the genetic basis of swine skin thickness would enrich our knowledge about the skin. To identify the loci for porcine skin thickness, we first performed a genome scan with 194 microsatellite markers in a White Duroc × Erhualian F2 intercross. We identified three genome-wide significant QTL on pig chromosomes (SSC) 4, 7 and 15 using linkage analysis. The most significant QTL was found on SSC7 with a small confidence interval of ~5 cM, explaining 23.9 percent of phenotypic variance. Further, we conducted a genome-wide association study (GWAS) using Illumina PorcineSNP60 Beadchips for the F2 pedigree and a population of Chinese Sutai pigs. We confirmed significant QTL in the F2 pedigree and replicated QTL on SSC15 in Chinese Sutai pigs. A meta-analysis of GWASs on both populations detected a genomic region associated with skin thickness on SSC4. GWAS results were generally consistent with QTL mapping. Identical-by-descent analysis defined QTL on SSC7 in a 683-kb region harboring an interesting candidate gene: HMGA1. On SSC15, the linkage disequilibrium analysis showed a haplotype block of 2.20 Mb that likely harbors the gene responsible for skin thickness. Our findings provide novel insights into the genetic basis of swine skin thickness, which would benefit further understanding of porcine skin function.

摘要

皮肤是猪身体中最大的器官,在保护身体免受病原体侵害和防止水分过度流失方面发挥着关键作用。解读猪皮肤厚度的遗传基础将丰富我们对皮肤的认识。为了确定猪皮肤厚度的基因座,我们首先在白色杜洛克×二花脸F2杂交群体中使用194个微卫星标记进行了全基因组扫描。通过连锁分析,我们在猪染色体(SSC)4、7和15上鉴定出三个全基因组显著的QTL。在SSC7上发现了最显著的QTL,其置信区间较小,约为5 cM,解释了23.9%的表型变异。此外,我们使用Illumina PorcineSNP60芯片对F2家系和中国苏太猪群体进行了全基因组关联研究(GWAS)。我们在F2家系中证实了显著的QTL,并在中国苏太猪中复制了SSC15上的QTL。对两个群体的GWAS进行荟萃分析,在SSC4上检测到一个与皮肤厚度相关的基因组区域。GWAS结果与QTL定位结果总体一致。同源性分析在SSC7上一个683 kb的区域定义了QTL,该区域包含一个有趣的候选基因:HMGA1。在SSC15上,连锁不平衡分析显示一个2.20 Mb的单倍型块,可能包含负责皮肤厚度的基因。我们的研究结果为猪皮肤厚度的遗传基础提供了新的见解,这将有助于进一步了解猪皮肤的功能。

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