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某基因中的一个错义突变与肉用型鸡的腹部脂肪性状相关。

A Missense Mutation in the Gene Is Associated With Abdominal Fat Traits in Meat-Type Chickens.

作者信息

Trevisoli Priscila Anchieta, Moreira Gabriel Costa Monteiro, Boschiero Clarissa, Cesar Aline Silva Mello, Petrini Juliana, Margarido Gabriel Rodrigues Alves, Ledur Mônica Corrêa, Mourão Gerson Barreto, Garrick Dorian, Coutinho Luiz Lehmann

机构信息

Animal Science Department, University of São Paulo (USP)/Luiz de Queiroz College of Agriculture (ESALQ), Piracicaba, Brazil.

Agri-Food Industry, Food and Nutrition Department, University of São Paulo (USP)/Luiz de Queiroz College of Agriculture (ESALQ), Piracicaba, Brazil.

出版信息

Front Genet. 2021 Aug 11;12:698163. doi: 10.3389/fgene.2021.698163. eCollection 2021.

Abstract

Chicken is an important source of protein for human nutrition and a model system for growth and developmental biology. Although the genetic architecture of quantitative traits in meat-type chickens has been the subject of ongoing investigation, the identification of mutations associated with carcass traits of economic interest remains challenging. Therefore, our aim was to identify predicted deleterious mutation, which potentially affects protein function, and test if they were associated with carcass traits in chickens. For that, we performed a genome-wide association analysis (GWAS) for breast, thigh and drumstick traits in meat-type chickens and detected 19 unique quantitative trait loci (QTL). We then used: (1) the identified windows; (2) QTL for abdominal fat detected in a previous study with the same population and (3) previously obtained whole genome sequence data, to identify 18 predicted deleterious single nucleotide polymorphisms (SNPs) in those QTL for further association with breast, thigh, drumstick and abdominal fat traits. Using the additive model, a predicted deleterious SNP c.482C > T (SIFT score of 0.4) was associated ( < 0.05) with abdominal fat weight and percentage. This SNP is in the second exon of the gene, and its allele frequency deviates from Hardy-Weinberg equilibrium. In conclusion, our study provides evidence that the c.482C > T SNP in the gene is a putative causal mutation for fat deposition in meat-type chickens.

摘要

鸡肉是人类营养中蛋白质的重要来源,也是生长发育生物学的一个模型系统。尽管肉用型鸡数量性状的遗传结构一直是正在进行的研究主题,但鉴定与具有经济价值的胴体性状相关的突变仍然具有挑战性。因此,我们的目的是鉴定可能影响蛋白质功能的预测有害突变,并测试它们是否与鸡的胴体性状相关。为此,我们对肉用型鸡的胸肉、大腿和小腿性状进行了全基因组关联分析(GWAS),并检测到19个独特的数量性状位点(QTL)。然后,我们使用:(1)已鉴定的窗口;(2)在先前对同一群体的研究中检测到的腹部脂肪QTL,以及(3)先前获得的全基因组序列数据,在这些QTL中鉴定出18个预测有害的单核苷酸多态性(SNP),以进一步与胸肉、大腿、小腿和腹部脂肪性状进行关联分析。使用加性模型,一个预测有害的SNP c.482C>T(SIFT评分0.4)与腹部脂肪重量和百分比相关(<0.05)。该SNP位于基因的第二个外显子中,其等位基因频率偏离哈迪-温伯格平衡。总之,我们的研究提供了证据,表明基因中的c.482C>T SNP是肉用型鸡脂肪沉积的一个推定因果突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be41/8386115/f2f06b66f7ce/fgene-12-698163-g001.jpg

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