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Vol. 102, No. 1-4, 2003
Issue release date: 2003
Section title: Paper
Cytogenet Genome Res 102:163–172 (2003)
(DOI:10.1159/000075743)

Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons

Amarger V. · Erlandsson R. · Pielberg G. · Jeon J.-T. · Andersson L.
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)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 5/6/2003
Accepted: 11/1/2003
Published online: 3/1/2004

Number of Print Pages: 10
Number of Figures: 4
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

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.   


Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 5/6/2003
Accepted: 11/1/2003
Published online: 3/1/2004

Number of Print Pages: 10
Number of Figures: 4
Number of Tables: 2

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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