Characterization of the Mouse Loricrin Gene: Linkage with Profilaggrin and the Flaky Tail and Soft Coat Mutant Loci on Chromosome 3

Autor: Rothnagel, Joseph A., Longley, Mary A., Bundman, Donnie S., Naylor, Susan L., Lalley, Peter A., Jenkins, Nancy A., Gilbert, Debra J., Copeland, Neal G., Roop, Dennis R.
Zdroj: Genomics; September 15, 1994, Vol. 23 Issue: 2 p450-456, 7p
Abstrakt: Loricrin is the major component of a specialized structure, termed the cornified cell envelope, that is formed beneath the plasma membrane of stratified squamous epithelial cells and is coexpressed with profilaggrin in terminally differentiating epidermal keratinocytes. Full-length cDNAs for both mouse and human loricrin have been cloned and characterized, as has the human gene. Here we report the isolation and characterization of the mouse loricrin gene. The gene has a simple structure consisting of a single intron of 1091 bp within the 5' noncoding sequence and an uninterrupted open reading frame. Using PCR analyses of DNAs isolated from mouse × Chinese hamster somatic cell hybrids, we have mapped both the loricrin and the profilaggrin genes to chromosome 3. Genetic linkage analysis has shown that mouse loricrin and profilaggrin lie within 1.5 ± 1.1 centimorgans of each other. We have further shown that both genes map in the vicinity of the flaky tail (ft) and soft coat (soc) loci. These mouse mutants exhibit a number of changes in their integument, suggesting that abnormalities in these genes may contribute to the mutant phenotype. Copyright 1994, 1999 Academic Press
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