Document Detail


Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice.
MedLine Citation:
PMID:  16595169     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Lens opacity 11 (lop11) is an autosomal recessive mouse cataract mutation that arose spontaneously in the RIIIS/J strain. At 3 weeks of age mice exhibit total cataracts with vacuoles. The lop11 locus was mapped to mouse chromosome 8. Analysis of the mouse genome for the lop11 critical region identified Hsf4 as a candidate gene. Molecular evaluation of Hsf4 revealed an early transposable element (ETn) in intron 9 inserted 61 bp upstream of the intron/exon junction. The same mutation was also identified in a previously mapped cataract mutant, ldis1. The ETn insertion altered splicing and expression of the Hsf4 gene, resulting in the truncated Hsf4 protein. In humans, mutations in HSF4 have been associated with both autosomal dominant and recessive cataracts. The lop11 mouse is an excellent resource for evaluating the role of Hsf4 in transparency of the lens.
Authors:
Elijah Talamas; Lavinia Jackson; Matthew Koeberl; Todd Jackson; John L McElwee; Norman L Hawes; Bo Chang; Monica M Jablonski; D J Sidjanin
Related Documents :
21768539 - Mutation-linked defective interdomain interactions within ryanodine receptor cause aber...
17509359 - A polymorphism of matrix gla protein gene is associated with kidney stones.
15623749 - Truncating mutation in the nhs gene: phenotypic heterogeneity of nance-horan syndrome i...
14627959 - A novel mutation in gja3 (connexin46) for autosomal dominant congenital nuclear pulveru...
20155289 - Hnf1b alterations associated with congenital anomalies of the kidney and urinary tract.
1425839 - Dna markers in diagnosis of adult dominant polycystic kidney disease.
10850409 - Detection of exon deletions and duplications of the mismatch repair genes in hereditary...
16395389 - Genetic analysis of susceptibility to chlamydia trachomatis in mouse.
12019779 - Exon concatenation to increase the efficiency of mutation screening by dgge.
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2006-04-03
Journal Detail:
Title:  Genomics     Volume:  88     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2006 Jul 
Date Detail:
Created Date:  2006-06-16     Completed Date:  2006-08-04     Revised Date:  2014-11-09    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  44-51     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Animals
Base Sequence
Cataract / genetics*,  physiopathology
DNA Transposable Elements / genetics*
DNA-Binding Proteins / genetics*,  physiology
Disease Models, Animal
Eye Diseases, Hereditary / genetics*,  physiopathology
Eye Proteins / genetics*,  physiology
Genes, Recessive
Introns*
Mice
Mice, Inbred Strains
Molecular Sequence Data
Transcription Factors / genetics*,  physiology
Grant Support
ID/Acronym/Agency:
EY015173/EY/NEI NIH HHS; EY031080/EY/NEI NIH HHS; EY07758/EY/NEI NIH HHS; P30 EY01931/EY/NEI NIH HHS; R01 EY015173/EY/NEI NIH HHS; R01 EY015173-03/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/DNA Transposable Elements; 0/DNA-Binding Proteins; 0/Eye Proteins; 0/Hsf4 protein, mouse; 0/Transcription Factors
Comments/Corrections

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


Previous Document:  Sentinel lymph node biopsy in multicentric breast cancer. The experience of the European Institute o...
Next Document:  Functional consequences of naturally occurring DRY motif variants in the mammalian chemoattractant r...