A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Détails
ID Serval
serval:BIB_433891877019
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Périodique
Nature Genetics
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
09/1998
Volume
20
Numéro
1
Pages
37-42
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep
Research Support, Non-U.S. Gov't --- Old month value: Sep
Résumé
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex; another form is caused by mutations in the gene for the muscle-specific protease calpain 3. Using a positional cloning approach, we have identified the gene for a form of limb-girdle muscular dystrophy that we previously mapped to chromosome 2p13 (LGMD2B). This gene shows no homology to any known mammalian gene, but its predicted product is related to the C. elegans spermatogenesis factor fer-1. We have identified two homozygous frameshift mutations in this gene, resulting in muscular dystrophy of either proximal or distal onset in nine families. The proposed name 'dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology.
Mots-clé
Adolescent
Adult
Amino Acid Sequence
Animals
Caenorhabditis elegans/*genetics
*Caenorhabditis elegans Proteins
Child
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 2
Female
Helminth Proteins/*genetics
Humans
Male
*Membrane Proteins
Molecular Sequence Data
Muscle Proteins/chemistry/*genetics/metabolism
Muscular Dystrophies/*genetics
*Mutation
Pedigree
Sequence Homology, Amino Acid
Tissue Distribution
DOI
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 14:46