Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice. Genomics 2006 Jul;88(1):44-51
Date
04/06/2006Pubmed ID
16595169Pubmed Central ID
PMC1509100DOI
10.1016/j.ygeno.2006.02.012Scopus ID
2-s2.0-33744911966 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
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.
Author List
Talamas E, Jackson L, Koeberl M, Jackson T, McElwee JL, Hawes NL, Chang B, Jablonski MM, Sidjanin DJAuthor
Danielle Sidjanin Maier PhD, MSN APP Supervisor Inpatient 2 in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsBase Sequence
Cataract
DNA Transposable Elements
DNA-Binding Proteins
Disease Models, Animal
Eye Diseases, Hereditary
Eye Proteins
Genes, Recessive
Heat Shock Transcription Factors
Introns
Mice
Mice, Inbred Strains
Molecular Sequence Data
Transcription Factors
