Document Detail

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
MedLine Citation:
PMID:  12627228     Owner:  NLM     Status:  MEDLINE    
The spontaneous mouse grey-lethal (gl) mutation is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Using a positional cloning approach, we have mapped and isolated the gl locus from a approximately 1.5 cM genetic interval. The gl locus was identified in a bacterial artificial chromosome (BAC) contig by functional genetic complementation in transgenic mice. Genomic sequence analysis revealed that the gl mutation is a deletion resulting in complete loss of function. The unique approximately 3 kb wild-type transcript is expressed primarily in osteoclasts and melanocytes as well as in brain, kidney, thymus and spleen. The gl gene is predicted to encode a 338-amino acid type I transmembrane protein that localizes to the intracellular compartment. Mutation in the human GL gene leads to severe recessive osteopetrosis. Our studies show that mouse Gl protein function is absolutely required for osteoclast and melanocyte maturation and function.
Nader Chalhoub; Nadia Benachenhou; Venkatesh Rajapurohitam; Monica Pata; Mathieu Ferron; Annalisa Frattini; Anna Villa; Jean Vacher
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-03-10
Journal Detail:
Title:  Nature medicine     Volume:  9     ISSN:  1078-8956     ISO Abbreviation:  Nat. Med.     Publication Date:  2003 Apr 
Date Detail:
Created Date:  2003-04-03     Completed Date:  2003-05-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9502015     Medline TA:  Nat Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  399-406     Citation Subset:  IM    
Institut de Recherches Cliniques de Montréal, Faculté de Médecine de l'Université de Montréal, Montréal, Québec, Canada.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF533890;  AF533891
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MeSH Terms
Amino Acid Sequence
Chromosomes, Artificial, Bacterial
Gene Deletion
Genes, Lethal*
Genes, Recessive*
Intracellular Fluid / metabolism
Melanocytes / physiology
Membrane Proteins / chemistry,  genetics*
Molecular Sequence Data
Osteoclasts / physiology
Osteopetrosis / genetics*,  pathology
Physical Chromosome Mapping
Pigmentation Disorders / genetics*
Sequence Homology, Amino Acid
Reg. No./Substance:
0/Membrane Proteins; 0/grey-lethal protein, mouse
Comment In:
Nat Med. 2003 Apr;9(4):395-6   [PMID:  12669057 ]

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