Document Detail


Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3.
MedLine Citation:
PMID:  9238094     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Lim2, the gene encoding the second most abundant lens specific integral membrane protein, MP19, has recently been proposed as an ideal candidate gene for the cataractous mouse mutant, To3. The aim of this study was to screen the Lim2 gene in the To3 mutant for a genetic lesion that was correlated and consistent with the mutant phenotype. METHODS: Genomic DNA was isolated from both normal mouse parental strains as well as the heterozygous and homozygous To3 cataract mutant. PCR was used to generate overlapping fragments of the entire Lim2 gene from these DNAs. The coding regions, including splice junctions and the translational termination site, of these fragments were then sequenced. RESULTS: A single G -> T transversion was identified within the first coding exon of the Lim2 gene in the To3 mutant DNA. This DNA change results in the nonconservative substitution of a valine for the normally encoded glycine at amino acid 15 of the MP19 polypeptide. CONCLUSIONS: The identified genetic lesion in the Lim2 gene of the cataractous mouse mutant, To3, confirms Lim2 as an ideal candidate gene. Future transgenic experiments should provide proof or disproof of a causative relationship between the identified mutation and the cataractous phenotype. These studies indicate that MP19 may play an important role in both normal lens development and cataractogenesis, and warrants more intense investigation of its role within the ocular lens.
Authors:
E C Steele; S Kerscher; M F Lyon; P H Glenister; J Favor; J Wang; R L Church
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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.     Date:  1997-05-07
Journal Detail:
Title:  Molecular vision     Volume:  3     ISSN:  1090-0535     ISO Abbreviation:  Mol. Vis.     Publication Date:  1997 May 
Date Detail:
Created Date:  1998-02-10     Completed Date:  1998-02-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9605351     Medline TA:  Mol Vis     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  5     Citation Subset:  IM    
Affiliation:
Emory Eye Center, Emory University School of Medicine, Department of Ophthalmology, Atlanta, GA, USA.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Animals
Base Sequence
Cataract / genetics*
Crosses, Genetic
Eye Proteins / genetics*
Membrane Glycoproteins
Membrane Proteins / genetics*
Mice
Mice, Mutant Strains
Models, Molecular
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
Protein Structure, Secondary
Grant Support
ID/Acronym/Agency:
P30 EY06360/EY/NEI NIH HHS; R01 EY11516/EY/NEI NIH HHS; T32 EY07092/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Eye Proteins; 0/Lim2 protein, mouse; 0/Membrane Glycoproteins; 0/Membrane Proteins

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