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Molecular cloning and characterization of bovine PRKAG3 gene: structure, expression and single nucleotide polymorphism detection
Author(s) -
Yu S.L.,
Kim J.E.,
Chung H.J.,
Jung K.C.,
Lee Y.J.,
Yoon D.H.,
Lee S.H.,
Choi I.,
Bottema C.D.K.,
Sang B.C.,
Lee J.H.
Publication year - 2005
Publication title -
journal of animal breeding and genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 51
eISSN - 1439-0388
pISSN - 0931-2668
DOI - 10.1111/j.1439-0388.2005.00545.x
Subject(s) - biology , gene isoform , gene , exon , alternative splicing , complementary dna , genetics , bovine genome , microbiology and biotechnology , genome
Summary The protein kinase adenosine monophosphate‐activated γ 3‐subunit ( PRKAG3 ) gene encodes a muscle‐specific isoform of the regulatory gamma‐subunit of adenosine monophosphate‐activated protein kinase, which plays a key role in regulating energy homeostasis in eucaryotes. It is well known that mutations in the PRKAG3 gene affect high glycogen content in the porcine skeletal muscle and, consequently, meat quality. The genomic structure and sequence of the bovine PRKAG3 were analysed from a Korean cattle BAC clone. The bovine PRKAG3 gene comprises 13 exons and spans approximately 6.8 kb on BTA2. From 5′ and 3′‐rapid amplification of cDNA ends experiments, the full‐length cDNA of bovine PRKAG3 has been identified, encoding a deduced protein of 465 amino acids. Two splice isoforms, generated by the alternative splicing of exon 2, were also identified. Northern blot analysis demonstrated that, similar to other species, the bovine PRKAG3 transcript was only expressed in skeletal muscle. Seven single nucleotide polymorphisms, including two previously identified variants, were detected in four Bos taurus cattle breeds. The bovine PRKAG3 gene described in this study may be involved in muscle‐related genetic diseases or meat quality traits in cattle.