Document Detail


Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse.
MedLine Citation:
PMID:  18396277     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rupture of lens cataract (RLC) in the mouse is a spontaneous mutation inherited by a single autosomal recessive gene mapped on chromosome 14. Fine mapping of the mutant locus revealed a nucleotide deletion of 27-bp at the end of 15th exon of Dock5 (Dedicator of cytokinesis-5), a member of the Dock gene superfamily. Since the deletion occurred in-frame, the RLC-DOCK5 protein had a deletion of 9 amino acids (a.a. 506-514) in the DHR1 (DOCK homology region-1) domain that is essential for DOCK5, a GTP-exchanger for Rac1. Although Dock5 mRNA was intensely expressed equally in mutant and wild-type lenses, DOCK5 protein was hardly detectable in the mutant lens. In contrast, expression of Dock180, another member of Dock subfamily A, was not affected in RLC. Immunohistochemically, DOCK5 was stained intensely in the cytoplasm of the anterior epithelial cells and weakly in lens fiber of the wild type lenses, but little in RLC lens. These observations suggest that the mutation may somehow destabilize DOCK5 protein. We propose to designate the mutant allele of rlc as Dock5rlc. Relevance of the signaling pathway involving DOCK5-RAC1 in maintenance of lens integrity of growing lens is discussed.
Authors:
Natsue Omi; Etsuko Kiyokawa; Michiyuki Matsuda; Kazuo Kinoshita; Shuichi Yamada; Kazumi Yamada; Yoshibumi Matsushima; Yun Wang; Jun Kawai; Masanori Suzuki; Yoshihide Hayashizaki; Hiroshi Hiai
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-03-02
Journal Detail:
Title:  Experimental eye research     Volume:  86     ISSN:  0014-4835     ISO Abbreviation:  Exp. Eye Res.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-05-09     Completed Date:  2008-09-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370707     Medline TA:  Exp Eye Res     Country:  England    
Other Details:
Languages:  eng     Pagination:  828-34     Citation Subset:  IM    
Affiliation:
Department of Pathology and Biology of Diseases, Kyoto University Graduate School of Medicine, Kyoto 606-8501, Japan.
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MeSH Terms
Descriptor/Qualifier:
Animals
Cataract / genetics*,  metabolism
Chromosome Mapping
DNA, Complementary / genetics
Disease Models, Animal
Eye Proteins / biosynthesis,  genetics*
Genes, Recessive
Genetic Predisposition to Disease
Guanine Nucleotide Exchange Factors / biosynthesis,  genetics*
Haplotypes
Lens, Crystalline / metabolism
Male
Mice
Mice, Inbred BALB C
Mutation*
Polymerase Chain Reaction / methods
RNA, Messenger / genetics
Rupture, Spontaneous
Signal Transduction
Chemical
Reg. No./Substance:
0/DNA, Complementary; 0/Dock5 protein, mouse; 0/Eye Proteins; 0/Guanine Nucleotide Exchange Factors; 0/RNA, Messenger

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