A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene

Détails

ID Serval
serval:BIB_038D32340F0F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
Périodique
Human Molecular Genetics
Auteur⸱e⸱s
Chiannilkulchai  N., Pasturaud  P., Richard  I., Auffray  C., Beckmann  J. S.
ISSN
0964-6906 (Print)
Statut éditorial
Publié
Date de publication
04/1995
Volume
4
Numéro
4
Pages
717-25
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Résumé
Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the establishment of a 10-12 Mb YAC contig encompassing the morbid locus. In order to progress toward the identification of the gene involved in LGMD2A, a primary transcription map of this genomic region was generated. The direct cDNA selection strategy was used with three YACs covering the candidate region and two different muscle cDNA libraries. Seventeen transcription units were identified among 171 cDNA fragments analysed. Five sequences corresponded to known genes, and twelve to new ones. They were characterized for their sequences, physical positions within the YAC contig, and expression patterns. Among those specifically transcribed in muscle, the calpain gene is a good positional and functional candidate for LGMD2A.
Mots-clé
Adult Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Artificial, Yeast *Chromosomes, Human, Pair 15 Cloning, Molecular DNA, Complementary Humans Molecular Sequence Data Muscles/metabolism Muscular Dystrophies/*genetics Sequence Homology, Amino Acid Transcription, Genetic
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 12:25
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