{"title":"对肌肉脂肪含量不同选择的家兔进行双变量GWAS,揭示了与肉和胴体品质性状相关的多效基因组区域和基因","authors":"Bolívar Samuel Sosa-Madrid, Agostina Zubiri-Gaitán, Noelia Ibañez-Escriche, Agustín Blasco, Pilar Hernández","doi":"10.1186/s12711-025-00971-5","DOIUrl":null,"url":null,"abstract":"Meat quality plays an important economic role in the meat industry and livestock breeding programmes. Intramuscular fat content (IMF) is one of the main meat quality parameters and its genetic improvement has led breeders to investigate its genomic architecture and correlation with other relevant traits. Genetic markers associated with causal variants for these traits can be identified by bivariate analyses. In this study, we used two rabbit lines divergently selected for IMF to perform bivariate GWAS with the aim of detecting pleiotropic genomic regions between IMF and several weight, fat, and meat quality traits. Additionally, whole-genome sequencing data from these lines were used to identify potential causal variants associated with the genetic markers. The main pleiotropic region was found on Oryctolagus cuniculus chromosome (OCC) 1 between 35.4 Mb and 38.2 Mb, explaining up to 2.66% of the IMF genetic variance and being associated with all traits analysed, except muscle lightness. In this region, the potentially causal variants found pointed to PLIN2, SH3GL2, CNTLN, and BNC2 as the main candidate genes affecting the different weight, fat depots and meat quality traits. Other relevant pleiotropic regions found were those on OCC3 (148.94–150.89 Mb) and on OCC7 (27.07–28.44 Mb). The first was associated with all fat depot traits and explained the highest percentage of genetic variance, up to 10.90% for scapular fat. Several allelic variants were found in this region, all located in the novel gene ENSOCUG00000000157 (orthologous to ST3GAL1 in other species), involved in lipid metabolism, suggesting it as the main candidate affecting fat deposition. The region on OCC7 was associated with most meat quality traits and explained 8.48% of the genetic variance for pH. No allele variants were found to segregate differently between the lines in this region; however, it remains a promising region for future functional studies. Our results showed that bivariate models assuming pleiotropic effects are valuable tools to identify genomic regions simultaneously associated with IMF and several weight, fat and meat quality traits. Overall, our results provided relevant insights into the correlations and relationships between traits at the genomic level, together with potential functional mutations, which would be relevant for exploration in rabbit and other livestock breeding programmes.","PeriodicalId":55120,"journal":{"name":"Genetics Selection Evolution","volume":"107 1","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Bivariate GWAS performed on rabbits divergently selected for intramuscular fat content reveals pleiotropic genomic regions and genes related to meat and carcass quality traits\",\"authors\":\"Bolívar Samuel Sosa-Madrid, Agostina Zubiri-Gaitán, Noelia Ibañez-Escriche, Agustín Blasco, Pilar Hernández\",\"doi\":\"10.1186/s12711-025-00971-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Meat quality plays an important economic role in the meat industry and livestock breeding programmes. Intramuscular fat content (IMF) is one of the main meat quality parameters and its genetic improvement has led breeders to investigate its genomic architecture and correlation with other relevant traits. Genetic markers associated with causal variants for these traits can be identified by bivariate analyses. In this study, we used two rabbit lines divergently selected for IMF to perform bivariate GWAS with the aim of detecting pleiotropic genomic regions between IMF and several weight, fat, and meat quality traits. Additionally, whole-genome sequencing data from these lines were used to identify potential causal variants associated with the genetic markers. The main pleiotropic region was found on Oryctolagus cuniculus chromosome (OCC) 1 between 35.4 Mb and 38.2 Mb, explaining up to 2.66% of the IMF genetic variance and being associated with all traits analysed, except muscle lightness. In this region, the potentially causal variants found pointed to PLIN2, SH3GL2, CNTLN, and BNC2 as the main candidate genes affecting the different weight, fat depots and meat quality traits. Other relevant pleiotropic regions found were those on OCC3 (148.94–150.89 Mb) and on OCC7 (27.07–28.44 Mb). The first was associated with all fat depot traits and explained the highest percentage of genetic variance, up to 10.90% for scapular fat. Several allelic variants were found in this region, all located in the novel gene ENSOCUG00000000157 (orthologous to ST3GAL1 in other species), involved in lipid metabolism, suggesting it as the main candidate affecting fat deposition. The region on OCC7 was associated with most meat quality traits and explained 8.48% of the genetic variance for pH. No allele variants were found to segregate differently between the lines in this region; however, it remains a promising region for future functional studies. Our results showed that bivariate models assuming pleiotropic effects are valuable tools to identify genomic regions simultaneously associated with IMF and several weight, fat and meat quality traits. Overall, our results provided relevant insights into the correlations and relationships between traits at the genomic level, together with potential functional mutations, which would be relevant for exploration in rabbit and other livestock breeding programmes.\",\"PeriodicalId\":55120,\"journal\":{\"name\":\"Genetics Selection Evolution\",\"volume\":\"107 1\",\"pages\":\"\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-07-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics Selection Evolution\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1186/s12711-025-00971-5\",\"RegionNum\":1,\"RegionCategory\":\"农林科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"AGRICULTURE, DAIRY & ANIMAL SCIENCE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics Selection Evolution","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1186/s12711-025-00971-5","RegionNum":1,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"AGRICULTURE, DAIRY & ANIMAL SCIENCE","Score":null,"Total":0}
Bivariate GWAS performed on rabbits divergently selected for intramuscular fat content reveals pleiotropic genomic regions and genes related to meat and carcass quality traits
Meat quality plays an important economic role in the meat industry and livestock breeding programmes. Intramuscular fat content (IMF) is one of the main meat quality parameters and its genetic improvement has led breeders to investigate its genomic architecture and correlation with other relevant traits. Genetic markers associated with causal variants for these traits can be identified by bivariate analyses. In this study, we used two rabbit lines divergently selected for IMF to perform bivariate GWAS with the aim of detecting pleiotropic genomic regions between IMF and several weight, fat, and meat quality traits. Additionally, whole-genome sequencing data from these lines were used to identify potential causal variants associated with the genetic markers. The main pleiotropic region was found on Oryctolagus cuniculus chromosome (OCC) 1 between 35.4 Mb and 38.2 Mb, explaining up to 2.66% of the IMF genetic variance and being associated with all traits analysed, except muscle lightness. In this region, the potentially causal variants found pointed to PLIN2, SH3GL2, CNTLN, and BNC2 as the main candidate genes affecting the different weight, fat depots and meat quality traits. Other relevant pleiotropic regions found were those on OCC3 (148.94–150.89 Mb) and on OCC7 (27.07–28.44 Mb). The first was associated with all fat depot traits and explained the highest percentage of genetic variance, up to 10.90% for scapular fat. Several allelic variants were found in this region, all located in the novel gene ENSOCUG00000000157 (orthologous to ST3GAL1 in other species), involved in lipid metabolism, suggesting it as the main candidate affecting fat deposition. The region on OCC7 was associated with most meat quality traits and explained 8.48% of the genetic variance for pH. No allele variants were found to segregate differently between the lines in this region; however, it remains a promising region for future functional studies. Our results showed that bivariate models assuming pleiotropic effects are valuable tools to identify genomic regions simultaneously associated with IMF and several weight, fat and meat quality traits. Overall, our results provided relevant insights into the correlations and relationships between traits at the genomic level, together with potential functional mutations, which would be relevant for exploration in rabbit and other livestock breeding programmes.
期刊介绍:
Genetics Selection Evolution invites basic, applied and methodological content that will aid the current understanding and the utilization of genetic variability in domestic animal species. Although the focus is on domestic animal species, research on other species is invited if it contributes to the understanding of the use of genetic variability in domestic animals. Genetics Selection Evolution publishes results from all levels of study, from the gene to the quantitative trait, from the individual to the population, the breed or the species. Contributions concerning both the biological approach, from molecular genetics to quantitative genetics, as well as the mathematical approach, from population genetics to statistics, are welcome. Specific areas of interest include but are not limited to: gene and QTL identification, mapping and characterization, analysis of new phenotypes, high-throughput SNP data analysis, functional genomics, cytogenetics, genetic diversity of populations and breeds, genetic evaluation, applied and experimental selection, genomic selection, selection efficiency, and statistical methodology for the genetic analysis of phenotypes with quantitative and mixed inheritance.