Kijas James W, McCulloch Russell, Edwards Janelle E Hocking, Oddy V Hutton, Lee Sang Hong, van der Werf Julius
CSIRO Livestock Industries, Level 5 Queensland Bioscience Precinct, 306 Carmody Road, St. Lucia 4067, Australia.
BMC Genet. 2007 Nov 8;8:80. doi: 10.1186/1471-2156-8-80.
The current investigation surveyed genetic polymorphism at the ovine GDF8 locus and determined its contribution to variation in muscling and fatness in sheep.
Re-sequencing 2988 bp from a panel of 15 sires revealed a total of six SNP, none of which were located within exons of the gene. One of the identified SNP, g+6723G>A, is known to increase muscularity within the Belgian Texel. A genetic survey of 326 animals revealed that the mutation is near fixation within Australian Texels and present in additional breeds including White Suffolk, Poll Dorset and Lincoln. Using a resource population comprising 15 sires and 1191 half-sib progeny with genotypic data, the effect of this and other SNP was tested against a set of 50 traits describing growth, muscling, fatness, yield, meat and eating quality. The loss of function allele (g+6723A) showed significant effects on slaughter measurements of muscling and fatness. No effect was detected on objectively assessed meat quality however evidence was found for an association between g+6723G>A, decreased intramuscular fat and reduced eating quality. Haplotype analysis using flanking microsatellites was performed to search for evidence of currently unidentified mutations which might affect production traits. Four haplotypes were identified that do not carry g+6723A but which showed significant associations with muscling and fatness.
The finding that g+6723G>A is present within Australian sheep facilitated an independent evaluation into its phenotypic consequence. Testing was conducted using a separate genetic background and animals raised in different environments to the Belgian Texel in which it was first identified. The observation that the direction and size of effects for g+6723A is approximately consistent represented a robust validation of the effects of the mutation. Based on observed allele frequencies within breeds, selection for g+6723A will have the largest impact within the White Suffolk. GDF8 may harbour additional mutations which serve to influence economically important traits in sheep.
当前的研究调查了绵羊GDF8基因座的遗传多态性,并确定了其对绵羊肌肉和脂肪变化的影响。
对15头种公羊的2988 bp进行重测序,共发现6个单核苷酸多态性(SNP),其中没有一个位于该基因的外显子内。已鉴定出的一个SNP,g+6723G>A,已知会增加比利时特克塞尔羊的肌肉量。对326只动物的基因调查显示,该突变在澳大利亚特克塞尔羊中几乎固定,并且在包括白萨福克羊、无角陶赛特羊和林肯羊在内的其他品种中也存在。利用一个由15头种公羊和11,91个具有基因型数据半同胞后代组成的资源群体,针对一组描述生长、肌肉、脂肪、产量、肉质和食用品质的50个性状,对该SNP和其他SNP的效应进行了测试。功能缺失等位基因(g+6723A)对肌肉和脂肪的屠宰测量有显著影响。在客观评估的肉质方面未检测到影响,然而,发现g+6723G>A与肌内脂肪减少和食用品质降低之间存在关联。利用侧翼微卫星进行单倍型分析,以寻找可能影响生产性状的当前未鉴定突变的证据。鉴定出了4种不携带g+6723A但与肌肉和脂肪有显著关联的单倍型。
g+6723G>A存在于澳大利亚绵羊中的这一发现,有助于对其表型后果进行独立评估。测试是在与首次鉴定该突变的比利时特克塞尔羊不同的遗传背景和饲养环境下的动物中进行的。g+6723A的效应方向和大小大致一致这一观察结果,有力地验证了该突变的效应。根据各品种中观察到的等位基因频率,选择g+6723A在白萨福克羊中产生的影响最大。GDF8可能含有其他影响绵羊经济重要性状的突变。