Document Detail


Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.
MedLine Citation:
PMID:  17223009     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
No3 (nuclear opacity 3) is a novel congenital nuclear cataract in mice. Microsatellite mapping placed the No3 locus on chromosome 1 between D1Mit480 (32cM) and D1Mit7 (41cM), a region containing seven crystallin genes; Cryba2 and the Cryga-Crygf cluster. Although polymorphic variants were observed, no candidate mutations were found for six of the genes. However, DNA walking identified a murine endogenous retrovirus (IAPLTR1: ERVK) insertion in exon 3 of Cryge, disrupting the coding sequence for gammaE-crystallin. Recombinant protein for the mutant gammaE was completely insoluble. The No3 cataract is mild compared with the effects of similar mutations of gammaE. Quantitative RT-PCR showed that gammaE/F mRNA levels are reduced in No3, suggesting that the relatively mild phenotype results from suppression of gammaE levels due to ERVK insertion. However, the severity of cataract is also strain dependent suggesting that genetic background modifiers also play a role in the development of opacity.
Authors:
Nabanita Nag; Katherine Peterson; Keith Wyatt; Sonja Hess; Sugata Ray; Jack Favor; Debora Bogani; Mary Lyon; Graeme Wistow
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Publication Detail:
Type:  Journal Article     Date:  2007-01-12
Journal Detail:
Title:  Genomics     Volume:  89     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-03-20     Completed Date:  2007-08-16     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  512-20     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Base Sequence
Cataract / genetics*
Mice
Mice, Mutant Strains
Mutagenesis, Insertional*
Mutation*
Phenotype
RNA, Messenger / analysis
gamma-Crystallins / genetics*
Grant Support
ID/Acronym/Agency:
MC_U142684172//Medical Research Council; MC_U142684175//Medical Research Council
Chemical
Reg. No./Substance:
0/RNA, Messenger; 0/crystallin gammaE; 0/gamma-Crystallins
Comments/Corrections

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


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