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206个牛基因内单核苷酸多态性的发现、特征描述及验证,这些基因可被视为牛肉生产和品质的候选基因。

Discovery, characterization and validation of single nucleotide polymorphisms within 206 bovine genes that may be considered as candidate genes for beef production and quality.

作者信息

Williams J L, Dunner S, Valentini A, Mazza R, Amarger V, Checa M L, Crisà A, Razzaq N, Delourme D, Grandjean F, Marchitelli C, García D, Gomez R Pérez, Negrini R, Marsan P Ajmone, Levéziel H

机构信息

Parco Tecnologico Padano, Via Einstein, Polo Universitario, 26900 Lodi, Italy.

出版信息

Anim Genet. 2009 Aug;40(4):486-91. doi: 10.1111/j.1365-2052.2009.01874.x. Epub 2009 Apr 16.

DOI:10.1111/j.1365-2052.2009.01874.x
PMID:19397516
Abstract

A large number of putative single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project. However, few of these have been validated and many will turn out to be sequencing artefacts or have low minor allele frequencies. In addition, there is little information available on SNPs within coding regions, which are likely to be responsible for phenotypic variation. Therefore, additional SNP discovery is necessary to identify and validate polymorphisms both in specific genes and genome-wide. Sequence-tagged sites within 286 genes were resequenced from a panel of animals representing a wide range of European cattle breeds. For 80 genes, no polymorphisms were identified, and 672 putative SNPs were identified within 206 genes. Fifteen European cattle breeds (436 individuals plus available parents) were genotyped with these putative SNPs, and 389 SNPs were confirmed to have minor allele frequencies above 10%. The genes containing SNPs were localized on chromosomes by radiation hybrid mapping and on the bovine genome sequence by Blast. Flanking microsatellite loci were identified, to facilitate the alignment of the genes containing the SNPs in relation to mapped quantitative trait loci. Of the 672 putative SNPs discovered in this work, only 11 were found among the validated SNPs and 100 were found among the approximately 2.3 million putative SNPs currently in dbSNP. The genes studied in this work could be considered as candidates for traits associated with beef production and the SNPs reported will help to assess the role of the genes in the genetic control of muscle development and meat quality. The allele frequency data presented allows the general utility of the SNPs to be assessed.

摘要

从牛基因组测序计划中已鉴定出大量假定的单核苷酸多态性(SNP)。然而,其中很少有经过验证的,而且许多最终会被证明是测序假象或具有较低的次要等位基因频率。此外,关于编码区内SNP的可用信息很少,而编码区的SNP可能是表型变异的原因。因此,有必要进行额外的SNP发现,以在特定基因和全基因组范围内鉴定和验证多态性。从代表广泛欧洲牛品种的一组动物中对286个基因内的序列标签位点进行了重测序。对于80个基因,未鉴定到多态性,在206个基因内鉴定到672个假定的SNP。用这些假定的SNP对15个欧洲牛品种(436个个体加上可用的亲本)进行基因分型,389个SNP被确认为次要等位基因频率高于10%。通过辐射杂种作图将含有SNP的基因定位到染色体上,并通过Blast将其定位到牛基因组序列上。鉴定了侧翼微卫星位点,以促进含有SNP的基因与定位的数量性状位点的比对。在本研究中发现的672个假定SNP中,只有11个在已验证的SNP中被发现,100个在目前dbSNP中约230万个假定SNP中被发现。本研究中所研究的基因可被视为与牛肉生产相关性状的候选基因,所报道的SNP将有助于评估这些基因在肌肉发育和肉质遗传控制中的作用。所呈现的等位基因频率数据可用于评估SNP的一般实用性。

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