A functional regulatory variant of MYH3 influences muscle fiber-type composition and intramuscular fat content in pigs

Autoři: In-Cheol Cho aff001;  Hee-Bok Park aff002;  Jin Seop Ahn aff003;  Sang-Hyun Han aff004;  Jae-Bong Lee aff005;  Hyun-Tae Lim aff006;  Chae-Kyoung Yoo aff007;  Eun-Ji Jung aff008;  Dong-Hwan Kim aff003;  Wu-Sheng Sun aff003;  Yuliaxis Ramayo-Caldas aff010;  Sang-Geum Kim aff001;  Yong-Jun Kang aff001;  Yoo-Kyung Kim aff004;  Hyun-Sook Shin aff001;  Pil-Nam Seong aff001;  In-Sul Hwang aff012;  Beom-Young Park aff012;  Seongsoo Hwang aff012;  Sung-Soo Lee aff013;  Youn-Chul Ryu aff014;  Jun-Heon Lee aff015;  Moon-Suck Ko aff001;  Kichoon Lee aff016;  Göran Andersson aff017;  Miguel Pérez-Enciso aff018;  Jeong-Woong Lee aff003
Působiště autorů: National Institute of Animal Science, Rural Development Administration, Jeju, Republic of Korea aff001;  Department of Animal Resources Science, College of Industrial Sciences, Kongju National University, Yesan, Republic of Korea aff002;  Biotherapeutics Translational Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Republic of Korea aff003;  Educational Science Research Institute, Jeju National University, Jeju, Republic of Korea aff004;  Korea Zoonosis Research Institute, Chonbuk National University, Iksan, Republic of Korea aff005;  Department of Animal Science, College of Agriculture and Life Sciences, Gyeongsang National University, Jinju, Republic of Korea aff006;  Institute of Agriculture and Life Science, Gyeongsang National University, Jinju, Republic of Korea aff007;  Bio-Medical Science Co., Ltd., Gimpo, Republic of Korea aff008;  Department of Functional Genomics, University of Science and Technology, Daejeon, Republic of Korea aff009;  Génétique Animale et Biologie Intégrative (GABI), INRA, AgroParisTech, Université Paris-Saclay, Jouy-en-Josas, France aff010;  Animal Breeding and Genetics Program, Institute for Research and Technology in Food and Agriculture (IRTA), Torre Marimon, Caldes de Montbui, Spain aff011;  National Institute of Animal Science, Rural Development Administration, Wanju, Republic of Korea aff012;  National Institute of Animal Science, Rural Development Administration, Namwon, Republic of Korea aff013;  Division of Biotechnology, SARI, Jeju National University, Jeju, Republic of Korea aff014;  Division of Animal and Dairy Science, Chungnam National University, Deajeon, Republic of Korea aff015;  Department of Animal Sciences, College of Food, Agricultural, and Environmental Sciences, The Ohio State University, Columbus, OH, United States of America aff016;  Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden aff017;  Centre for Research in Agricultural Genomics (CRAG), CSIC-IRTA-UAB-UB Consortium, Barcelona, Spain aff018;  Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona, Barcelona, Spain aff019;  ICREA, Carrer de Lluís Companys, Barcelona, Spain aff020
Vyšlo v časopise: A functional regulatory variant of MYH3 influences muscle fiber-type composition and intramuscular fat content in pigs. PLoS Genet 15(10): e32767. doi:10.1371/journal.pgen.1008279
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008279


Muscle development and lipid accumulation in muscle critically affect meat quality of livestock. However, the genetic factors underlying myofiber-type specification and intramuscular fat (IMF) accumulation remain to be elucidated. Using two independent intercrosses between Western commercial breeds and Korean native pigs (KNPs) and a joint linkage-linkage disequilibrium analysis, we identified a 488.1-kb region on porcine chromosome 12 that affects both reddish meat color (a*) and IMF. In this critical region, only the MYH3 gene, encoding myosin heavy chain 3, was found to be preferentially overexpressed in the skeletal muscle of KNPs. Subsequently, MYH3-transgenic mice demonstrated that this gene controls both myofiber-type specification and adipogenesis in skeletal muscle. We discovered a structural variant in the promotor/regulatory region of MYH3 for which Q allele carriers exhibited significantly higher values of a* and IMF than q allele carriers. Furthermore, chromatin immunoprecipitation and cotransfection assays showed that the structural variant in the 5′-flanking region of MYH3 abrogated the binding of the myogenic regulatory factors (MYF5, MYOD, MYOG, and MRF4). The allele distribution of MYH3 among pig populations worldwide indicated that the MYH3 Q allele is of Asian origin and likely predates domestication. In conclusion, we identified a functional regulatory sequence variant in porcine MYH3 that provides novel insights into the genetic basis of the regulation of myofiber type ratios and associated changes in IMF in pigs. The MYH3 variant can play an important role in improving pork quality in current breeding programs.

Klíčová slova:

Fibroblasts – Genome-wide association studies – Luciferase – Meat – Sequence motif analysis – Skeletal muscles – Swine – Variant genotypes


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