Linked Life Data

14970697

Source:http://linkedlifedata.com/resource/pubmed/id/14970697

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-4
pubmed:dateCreated
2004-2-18
pubmed:abstractText
The PRKAG3 gene encodes the gamma3 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1424-859X
pubmed:author
pubmed:copyrightInfo
Copyright 2003 S. Karger AG, Basel
pubmed:issnType
Electronic
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
163-72
pubmed:dateRevised
2010-10-8
pubmed:meshHeading
pubmed-meshheading:14970697-5' Untranslated Regions, pubmed-meshheading:14970697-AMP-Activated Protein Kinases, pubmed-meshheading:14970697-Animals, pubmed-meshheading:14970697-Base Sequence, pubmed-meshheading:14970697-Chromosome Mapping, pubmed-meshheading:14970697-Chromosomes, Artificial, Bacterial, pubmed-meshheading:14970697-Evolution, Molecular, pubmed-meshheading:14970697-Exons, pubmed-meshheading:14970697-Humans, pubmed-meshheading:14970697-Mice, pubmed-meshheading:14970697-Molecular Sequence Data, pubmed-meshheading:14970697-Multienzyme Complexes, pubmed-meshheading:14970697-Protein Kinases, pubmed-meshheading:14970697-Protein-Serine-Threonine Kinases, pubmed-meshheading:14970697-Repetitive Sequences, Nucleic Acid, pubmed-meshheading:14970697-Sequence Analysis, DNA, pubmed-meshheading:14970697-Swine
pubmed:year
2003
pubmed:articleTitle
Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons.
pubmed:affiliation
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't