Document Detail

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
MedLine Citation:
PMID:  8640223     Owner:  NLM     Status:  MEDLINE    
X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres. We have restricted the candidate region to 280 kb and characterized two candidate genes using positional cloning strategies. The presence of frameshift or missense mutations (of which two are new mutations) in seven patients proved that one of these genes is indeed implicated in MTM1. The protein encoded by the MTM1 gene is highly conserved in yeast, which is surprising for a muscle specific disease. The protein contains the consensus sequence for the active site of tyrosine phosphatases, a wide class of proteins involved in signal transduction. At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man.
J Laporte; L J Hu; C Kretz; J L Mandel; P Kioschis; J F Coy; S M Klauck; A Poustka; N Dahl
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  13     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-07-16     Completed Date:  1996-07-16     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  175-82     Citation Subset:  IM    
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/U LP, B.P. 163, C.U. de Strasbourg, France.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/U46023;  U46024;  U58032;  U58033;  U58034
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MeSH Terms
Amino Acid Sequence
Base Sequence
Binding Sites
Caenorhabditis elegans / genetics
Cloning, Molecular
Conserved Sequence
Genes, Fungal*
Linkage (Genetics)
Molecular Sequence Data
Muscle Hypotonia / genetics
Muscular Diseases / genetics*
Protein Tyrosine Phosphatases / chemistry,  genetics*,  isolation & purification,  metabolism
Protein Tyrosine Phosphatases, Non-Receptor
Saccharomyces cerevisiae / genetics
Tissue Distribution
X Chromosome*
Reg. No./Substance:
EC Tyrosine Phosphatases; EC Tyrosine Phosphatases, Non-Receptor; EC

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