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猪FABP5基因的核苷酸变异性和连锁不平衡模式。

Nucleotide variability and linkage disequilibrium patterns at the porcine FABP5 gene.

作者信息

Ojeda A, Estellé J, Folch J M, Pérez-Enciso M

机构信息

Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain.

出版信息

Anim Genet. 2008 Oct;39(5):468-73. doi: 10.1111/j.1365-2052.2008.01752.x. Epub 2008 Jun 28.

DOI:10.1111/j.1365-2052.2008.01752.x
PMID:18565161
Abstract

Fatty acid binding protein 5 (FABP5) is a major positional and physiological candidate gene for the porcine FAT1 QTL on SSC4. Here we characterize the nucleotide polymorphism and haplotype variability of FABP5 and we compare it with that of FABP4, given their close physical location and similar metabolic roles. DNA resequencing of the FABP5 gene region in 29 pigs from 14 breeds and in European and Japanese wild boars revealed 36 polymorphisms in 5.2 kb, and a nucleotide diversity of 0.19%, comparable to values reported in other domestic species but sixfold lower than that previously found for FABP4. Remarkably, both the nucleotide variability and the haplotype structure of FABP5 and FABP4 were dramatically different, and the Hudson-Kreitman-Aguadé test was highly significant. Nevertheless, both genes also had similarities. The neighbour-joining trees of their haplotypes did not show a geographical arrangement for any of the genes. Besides, both genes presented a similar extent and pattern of linkage disequilibrium. Haplotype blocks did not extend for large stretches ( approximately 1 kb in both genes), and the number of tag SNPs required to capture all variability was higher than previously expected. Our findings indicate that FABP4 and FABP5 have undergone different selective or evolutive processes. The fact that haplotype blocks were so small may require us to increase the number of SNPs in prospective whole-genome association studies in the pig.

摘要

脂肪酸结合蛋白5(FABP5)是猪4号染色体上FAT1数量性状位点的主要位置和生理候选基因。鉴于FABP4与FABP5在物理位置上相近且代谢作用相似,本文对FABP5的核苷酸多态性和单倍型变异性进行了表征,并将其与FABP4进行了比较。对来自14个品种的29头猪以及欧洲和日本野猪的FABP5基因区域进行DNA重测序,结果显示在5.2 kb区域内有36个多态性位点,核苷酸多样性为0.19%,这与其他家养物种报道的值相当,但比之前发现的FABP4的值低六倍。值得注意的是,FABP5和FABP4的核苷酸变异性和单倍型结构都存在显著差异,哈德森-克赖特曼-阿瓜德检验结果高度显著。然而,这两个基因也有相似之处。它们单倍型的邻接树都没有显示出任何一个基因的地理分布格局。此外,两个基因的连锁不平衡程度和模式相似。单倍型块延伸的范围不大(两个基因均约为1 kb),捕获所有变异性所需的标签单核苷酸多态性数量高于先前预期。我们的研究结果表明,FABP4和FABP5经历了不同的选择或进化过程。单倍型块如此之小这一事实可能要求我们在未来猪的全基因组关联研究中增加单核苷酸多态性的数量。

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