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Quantitative trait loci for the number of vertebrae on Sus scrofa chromosomes 1 and 7 independently influence the numbers of thoracic and lumbar vertebrae in pigs

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Journal of Integrative Agriculture 2015年第10期14卷 2027-2033页

作者： ZHANG Long-chao LIU Xin LIANG Jing YAN Hua ZHAO Ke-bin LI Na PU Lei SHI Hui-bi ZHANG Yue-bo WANG Li-gang WANG Li-xian Key Laboratory of Farm Animal Genetic Resources and Germplasm Innovation Ministry of Agriculture/Institute of Animal SciencesChinese Academy of Agricultural Sciences

Although quantitative trait loci（QTLs） for number of thoracic-lumbar vertebrae have been identified on Sus scrofa chromosomes（SSCs） 1 and 7, the influence of these QTLs on the thoracic and lumbar vertebrae is not clear. The aim of this study was to identify single nucleotide polymorphisms（SNPs） associated with total number of thoracic-lumbar vertebrae and for each trait（number of thoracic and lumbar vertebrae） separately. A total of 581 individuals from an F2 Large White×Minzhu population were genotyped using an SNP60 K chip. Performing a genome-wide association study（GWAS） for total number of thoracic-lumbar vertebrae, 38 significant SNPs were identified in two QTL regions located on SSC1 and SSC7. Performing a GWAS for number of thoracic vertebrae only, 72 significant SNPs were located on SSC7. While performing a GWAS for number of lumbar vertebrae only, 17 significant SNPs were identified on SSC1. Gene mining suggested that the gene encoding orphan nuclear receptor, germ cell nuclear factor（NR6A1） on SSC1 was a strong candidate affecting the number of lumbar vertebrae in pigs. Additionally, genes encoding vertnin（VRTN）, prospero homeobox 2（PROX2）, Finkel-Biskis-Jinkins murine osteosarcoma viral oncogene homolog（FOS）, and transforming growth factor beta 3（TGFB3） may be important candidates affecting the number of thoracic vertebrae in pigs. QTLs on SSC1 and SSC7 independently influenced the numbers of thoracic and lumbar vertebrae. These results shed light on the complex genetic background of vertebrae development in pigs.

关键词： candidate gene genetic variant genome-wide association study number of vertebrae pig QTLs

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Genome-wide search for candidate genes determining vertebrae number in pigs

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Frontiers of Agricultural Science and Engineering 2017年第3期4卷 327-334页

作者： Longchao ZHANG Jingwei YUE Xin LIU Jing LIANG Kebin ZHAO Hua YAN Na LI Lei PU Yuebo ZHANG Huibi SHI Ligang WANG Lixian WANG Key Laboratory of Farm Animal Genetic Resources and Germplasm Innovation of Ministry of Agriculture of China Institute of Animal ScienceChinese Academy of Agricultural Sciences

Longer porcine carcasses may be expected to have more vertebrae. Therefore, vertebrae number in pigs is an economically important trait. To examine the genetic basis of this trait, we genotyped 578 F-2 Large White x Minzhu pigs using the Porcine SNP60K BeadChip. A genome-wide association study (GWAS) identified 36 significant single nucleotide polymorphisms (SNPs) on the chromosomes SSC1 (294.28-300.32 Mb) and SSC7 (102.22-109.39 Mb). A 6.04-Mb region that contained all 13 significant SNPs on SSC1 also contained the gene NR6A1, previously reported to influence the number of vertebrae in pigs. However, the reported putative casual mutation of NR6A1 c. 748C > T showed no genome-wide significant association with the trait, suggesting it was not a causal mutation in our population. The remaining 23 significant SNPs on SSC7 were concentrated in a 7.17-Mb region, which was within a quantitative trait locus interval for number of vertebrae. TMED10 was the closest gene to the most significant SNP and might be a candidate. Haplotype sharing and block analysis refined the QTL to an interval of about 3 Mb containing 29 candidate genes. Of these 29 genes, the previously reported possible casual mutation of VRTN g. 19034A > C was not found to be a causal mutation in our population. Exploration of these genes via additional genetic and functional studies in mammals revealed that TGF beta 3 could be a good candidate on SSC7. A mutation of TGF beta 3 c. 1749G > A was detected by GWAS and could be proposed as a candidate causal mutation, or as closely linked to a causal mutation, for the number of vertebrae in pigs.

关键词： genome-wide association study number of vertebrae pig SSC7 TGF beta 3

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