Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exonsAmarger V.a · Erlandsson R.b · Pielberg G.a · Jeon J.-T.a · Andersson L.a,c
aDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala; bDepartment of Biotechnology, Royal Institute of Technology, Stockholm; cDepartment of Medical Biochemistry and Microbiology, Uppsala University, Uppsala (Sweden)
The PRKAG3 gene encodes the γ3 chain of AMP-activated protein kinase (AMPK). A non-conservative missense mutation in the PRKAG3 gene causes a dominant phenotype involving abnormally high glycogen content in pig skeletal muscle. We have determined >126 kb (in 13 contigs) of porcine genomic sequence surrounding the PRKAG3 gene and the corresponding mouse region covering the gene. A comparison of these PRKAG3 sequences and the human sequence was conducted and used to predict evolutionarily conserved regions, including regulatory regions. A comparison of the human genomic sequence and a porcine BAC sequence containing the PRKAG3 gene, revealed a conserved organization and the presence of three additional genes, CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), STK36 (Serine Threonine Kinase 36), and the homolog of the unidentified human mRNA KIAA0173. Interspersed repetitive elements constituted 51.4 and 38.6% of this genomic region in human and pig, respectively. We were able to reliably align 12.6 kb of orthologous repeats shared between pig and human and these showed an average sequence identity of 72.4%. Our analysis revealed that the human KIAA0173 gene harbors alternative 5′ untranslated exons originating from repetitive elements. This provides an obvious example how transposable elements may affect gene evolution.
© 2003 S. Karger AG, Basel
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Department of Medical Biochemistry and Microbiology
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Present address of V.A.: UMR1061 INRA/Université Limoges
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Present address of R.E.: Neuronova AB, Fiskartorpsv. 15
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Present address of J.-T.J.: Division of Animal Science, College of Agriculture
Gyeongsang National University, Chinju 660-701 (Korea)
Supported by the Swedish Research Council for Environment, Agricultural Sciences and Spatial Planning and the Swedish Foundation for Strategic Research.
Received 6 May 2003;
manuscript accepted 1 August 2003.
Number of Print Pages : 10
Number of Figures : 4, Number of Tables : 2, Number of References : 28
Cytogenetic and Genome Research
Formerly ‘Cytogenetics and Cell Genetics’
Vol. 102, No. 1-4, Year 2003 (Cover Date: 2003)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 1424–8581 (print), 1424–859X (Online)
For additional information: http://www.karger.com/journals/cgr