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PMID: 10403775 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7).

Biochemical and biophysical research communications ·Vol. 260 ·No. 2 ·1999-07-05 ·Pages 357-64

Vignier N, Moghadaszadeh B, Gary F, Beckmann J, Mayer U, Guicheney P

Abstract

We have determined the structure and the exon size pattern of the human integrin alpha7 subunit gene (ITGA7), which has been shown to be affected in a form of congenital myopathy. The gene is composed of at least 27 exons spanning a region of about 22.5 kb. The sequence of all exon/intron boundaries was determined and conforms to the GT/AG splicing consensus. We investigated the different splicing forms previously described in human and rodents. The major cytoplasmic variants alpha7A and alpha7B, which are developmentally regulated and tissue specific, were identified in human tissues, as well as the extracellular isoforms X1 and X2. The recently described D variant was detected in adult tissues by RT-PCR but not the C variant. We localized ITGA7 on chromosome 12q13 by high-resolution radiation hybrid mapping between D12S312 and D12S90 and identified a new CA-repeat microsatellite in intron 1.

MeSH Terms
Amino Acid Sequence Animals Antigens, CD/genetics Base Sequence Chromosome Mapping Chromosomes, Human, Pair 12 DNA, Complementary Dinucleotide Repeats Exons Humans Integrin alpha Chains Introns Mice Molecular Sequence Data Muscle, Skeletal/metabolism Myocardium/metabolism RNA Splicing RNA, Messenger/genetics,metabolism Reverse Transcriptase Polymerase Chain Reaction Sequence Homology, Amino Acid
Chemicals
Antigens, CD DNA, Complementary Integrin alpha Chains RNA, Messenger integrin alpha7
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Vignier N
INSERM U153, Groupe Hospitalier Pitié-Salpêtrière, Paris Cedex 13, 75651, France.
Moghadaszadeh B
Gary F
Beckmann J
Mayer U
Guicheney P
Article Info
Journal
Biochemical and biophysical research communications
Abbr.
Biochem Biophys Res Commun
ISSN
0006-291X
Published
1999-07-05
Pages
357-64
Language
English
Region
United States
NLM ID
0372516
Subset
IM
Databases
GENBANK
AJ006533, AJ228836, AJ228837, AJ228838, AJ228839, AJ228840, AJ228841, AJ228842, AJ228843, AJ228844, AJ228845, AJ228846, AJ228847, AJ228848, AJ228849, AJ228850, AJ228851, AJ228852, AJ228853, AJ228854, AJ228855, AJ228856, AJ228857, AJ228858, AJ228859, AJ228860, AJ228861, AJ228862
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