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

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

doi:10.3389/fgene.2021.698163

Priscila Anchieta Trevisoli, Gabriel Rodrigues Alves Margarido + Show 8 more

Open Access

https://doi.org/10.3389/fgene.2021.698163

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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 (p-value < 0.05) with abdominal fat weight and percentage. This SNP is in the second exon of the MYBPH gene, and its allele frequency deviates from Hardy–Weinberg equilibrium. In conclusion, our study provides evidence that the c.482C > T SNP in the MYBPH gene is a putative causal mutation for fat deposition in meat-type chickens.

Highlights

Chicken is an important source of protein for human nutrition and a model system for growth and developmental biology (Ellegren, 2005)
High-density single nucleotide polymorphisms (SNPs) panels were previously used in genome wide association studies (GWAS) to identify quantitative trait loci (QTL) for body weight (Gu et al, 2011), several measures of fatness (Sun et al, 2013; Moreira et al, 2018b), breast and leg muscle weights, wing weight (Xie et al, 2012), carcass and eviscerated weights (Liu et al, 2013)
Body weight at 42 days of age (BW42) was measured six hours after fasting, chickens were euthanized by cervical dislocation followed by bleeding

Summary

Introduction

Chicken is an important source of protein for human nutrition and a model system for growth and developmental biology (Ellegren, 2005). High throughput sequencing of several breeding lines has identified millions of single nucleotide polymorphisms (SNPs) across the chicken genome. High-density SNP panels were previously used in genome wide association studies (GWAS) to identify QTL for body weight (Gu et al, 2011), several measures of fatness (Sun et al, 2013; Moreira et al, 2018b), breast and leg muscle weights, wing weight (Xie et al, 2012), carcass and eviscerated weights (Liu et al, 2013). Linkage disequilibrium between the genetic variant present on a SNP panel and the casual mutation allows QTL detection by genome-wide association study (GWAS), but fine-mapping studies are necessary to identify which sequence mutation within the QTL is the causative mutation responsible for the phenotype of interest. Combining statistical evidence from association studies with functional annotations of the genes or genetic variants, is a helpful approach to identify potential causal mutations (Spain and Barrett, 2015)

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