Document Detail


Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse.
MedLine Citation:
PMID:  15037589     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: The purpose of this study was the characterization of eight new dominant cataract mutations. METHODS: Lenses of mutant mice were described morphologically and histologically. Each mutation was mapped by linkage studies. The candidate genes (the Cryg gene cluster and the closely linked Cryba2 gene) were sequenced. RESULTS: Molecular analysis confirmed all mutations in Cryg genes. Five mutations lead to amino acid exchanges, two are due to premature stop codons, and one is a 10-bp deletion in the Cryge gene. Morphologically, mutant carriers expressed nonsyndromic cataracts, ranging from diffuse lenticular opacities (Crygd(ENU910) and Cryge(ENU449)), to dense nuclear and subcortical opacity (Crygd(K10), Crygc(MNU8), Cryge(Z2), Crygd(ENU4011), and Cryge(ADD15306)), to dense nuclear opacity and ruptured lenses (Cryga(ENU469)). Results of histologic analyses correlate well with the severity of lens opacity, ranging from alterations in the process of secondary fiber nucleus degradation to lens vacuoles, fiber degeneration, and disruption of the lens capsule. CONCLUSIONS: In total, 20 mutations have been described that affect the Cryg gene cluster: Nine mutations affect the Cryge gene, but only one affects the Crygb or Crygf genes. No mutation was observed in the closely linked Cryba2. Two mutations occur at the same site in the Crygd and Cryge genes (Leu45-->Pro). The unequal distribution of mutations suggests hot spots in the Cryg genes. The overall high number of mutations in these genes demonstrates their central role in the maintenance of lens transparency.
Authors:
Jochen Graw; Angelika Neuhäuser-Klaus; Norman Klopp; Paul B Selby; Jana Löster; Jack Favor
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Investigative ophthalmology & visual science     Volume:  45     ISSN:  0146-0404     ISO Abbreviation:  Invest. Ophthalmol. Vis. Sci.     Publication Date:  2004 Apr 
Date Detail:
Created Date:  2004-03-23     Completed Date:  2004-04-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7703701     Medline TA:  Invest Ophthalmol Vis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1202-13     Citation Subset:  IM    
Affiliation:
Institute of Developmental Genetics, GSF-National Research Center for Environment and Health, Neuherberg, Germany. graw@gsf.de
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MeSH Terms
Descriptor/Qualifier:
Alleles
Amino Acid Sequence
Animals
Base Sequence
Cataract / classification,  genetics*,  pathology
DNA / isolation & purification
DNA Mutational Analysis
Female
Genes, Dominant
Genetic Heterogeneity
Lens, Crystalline / pathology
Linkage (Genetics)
Male
Mice
Mice, Inbred C3H
Mice, Inbred DBA
Models, Molecular
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction
RNA / isolation & purification
Sequence Analysis, DNA
gamma-Crystallins / genetics*
Chemical
Reg. No./Substance:
0/gamma-Crystallins; 63231-63-0/RNA; 9007-49-2/DNA

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


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