Document Detail


Genetic mapping of a mouse modifier gene that can prevent ALS onset.
MedLine Citation:
PMID:  11112346     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the cytoplasmic Cu/Zn superoxide dismutase (SOD1) gene on human chromosome 21q22.1 cause 10-20% of familial amyotrophic lateral sclerosis (ALS) cases. The expression of the ALS phenotype in mice carrying the murine G86R SOD1 mutation is highly dependent upon the mouse genetic background. This is similar to the phenotypic variation observed in ALS patients containing identical SOD1 mutations. In the FVB/N background, mice expressing mG86R SOD1 develop an ALS phenotype at approximately 100 days. However, when these mice were bred into a mixed background of C57Bl6/129Sv, the onset of the ALS phenotype was delayed (143 days to >2 years). Using 129 polymorphic autosomal markers in a whole genome scan, we have identified a major genetic modifier locus with a maximum lod score of 5.07 on mouse chromosome 13 between D13mit36 and D13mit76. This 5- to 8-cM interval contains the spinal muscular atrophy (SMA)-associated gene Smn (survival motor neuron) and seven copies of Naip (neuronal apoptosis inhibitory protein), suggesting a potential link between SMA and ALS.
Authors:
C B Kunst; L Messer; J Gordon; J Haines; D Patterson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  70     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-01-08     Completed Date:  2001-02-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  181-9     Citation Subset:  IM    
Affiliation:
Eleanor Roosevelt Institute, 1899 Gaylord Street, Denver, Colorado 80206, USA. ckunst@eri.uchsc.edu
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MeSH Terms
Descriptor/Qualifier:
Amyotrophic Lateral Sclerosis / genetics*
Animals
Base Sequence
DNA Primers
Female
Male
Mice
Mice, Inbred C57BL
Pedigree
Phenotype
Superoxide Dismutase / genetics*
Grant Support
ID/Acronym/Agency:
HD17449/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/DNA Primers; EC 1.15.1.1/Superoxide Dismutase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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