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Genes 2018, 9(1), 42; doi:10.3390/genes9010042

Copy Number Variation in SOX6 Contributes to Chicken Muscle Development

Guangdong Provincial Key Laboratory of Agro-Animal Genomics and Molecular Breeding, Key Laboratory of Chicken Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science of South China Agricultural University, Guangzhou 510642, China
Department of Biological Technology, Nanchang Normal University, Nanchang 330029, China
These authors contributed equally to this study.
Author to whom correspondence should be addressed.
Received: 31 October 2017 / Revised: 11 January 2018 / Accepted: 12 January 2018 / Published: 17 January 2018
(This article belongs to the Special Issue Complex Genetic Loci)
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Copy number variations (CNVs), which cover many functional genes, are associated with complex diseases, phenotypic diversity and traits that are economically important to raising chickens. The sex-determining region Y-box 6 (Sox6) plays a key role in fast-twitch muscle fiber differentiation of zebrafish and mice, but it is still unknown whether SOX6 plays a role in chicken skeletal muscle development. We identified two copy number polymorphisms (CNPs) which were significantly related to different traits on the genome level in chickens by AccuCopy® and CNVplex® analyses. Notably, five white recessive rock (CN = 1, CN = 3) variant individuals and two Xinghua (CN = 3) variant individuals contain a CNP13 (chromosome5: 10,500,294–10,675,531) which overlaps with SOX6. There is a disordered region in SOX6 proteins 265–579 aa coded by a partial CNV overlapping region. A quantitative real-time polymerase chain reaction showed that the expression level of SOX6 mRNA was positively associated with CNV and highly expressed during the skeletal muscle cell differentiation in chickens. After the knockdown of the SOX6, the expression levels of IGFIR1, MYF6, SOX9, SHOX and CCND1 were significantly down-regulated. All of them directly linked to muscle development. These results suggest that the number of CNVs in the CNP13 is positively associated with the expression level of SOX6, which promotes the proliferation and differentiation of skeletal muscle cells by up-regulating the expression levels of the muscle-growth-related genes in chickens as in other animal species. View Full-Text
Keywords: chicken; copy number variation; CNV; SOX6; growth; skeletal muscle; disorder region chicken; copy number variation; CNV; SOX6; growth; skeletal muscle; disorder region

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Lin, S.; Lin, X.; Zhang, Z.; Jiang, M.; Rao, Y.; Nie, Q.; Zhang, X. Copy Number Variation in SOX6 Contributes to Chicken Muscle Development. Genes 2018, 9, 42.

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