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Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.
Genomics 89, 512-520 (2007)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Cataract; Crystallin; Endogenous retrovirus
Language
Publication Year
2007
HGF-reported in Year
0
ISSN (print) / ISBN
0888-7543
e-ISSN
1089-8646
Journal
Genomics
Quellenangaben
Volume: 89,
Issue: 4,
Pages: 512-520
Publisher
Elsevier
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-002
PubMed ID
17223009
WOS ID
000245560000008
Scopus ID
33947136892
Erfassungsdatum
2007-04-22