A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis

The Journal of Investigative Dermatology
Kelly A McGowanGregory S Barsh

Abstract

Chemical mutagenesis in the mouse has increased the utility of phenotype-driven genetics as a means for studying different organ systems, developmental pathways, and pathologic processes. From a large-scale screen for dominant phenotypes in mice, a novel class of pigmentation mutants was identified by dark skin (Dsk). We describe a Dsk mutant, Dsk12, which models the human disease, epidermolytic hyperkeratosis (EHK). At 2 days of age, mutant animals exhibit intraepidermal blisters and erosions at sites of trauma, and by 2 weeks of age develop significant hyperkeratosis. We identified a missense mutation in mutant animals that predicts an S194P amino acid substitution in the 1A domain of Keratin 1, a known target for human mutations that cause EHK. Dsk12 recapitulates the gross pathologic, histologic, and genetic aspects of the human disorder, EHK.

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Citations

Jul 10, 2009·The Journal of Clinical Investigation·Pierre A CoulombeElaine Fuchs
Jan 27, 2012·The Journal of Investigative Dermatology·Pierre A Coulombe, Chang-Hun Lee
Apr 17, 2007·Experimental Cell Research·Thomas M MaginRudolf E Leube
Apr 3, 2007·European Journal of Cell Biology·Laura PlankoThomas M Magin
Dec 21, 2006·Current Opinion in Cell Biology·Li-Hong Gu, Pierre A Coulombe
Feb 18, 2010·Wiley Interdisciplinary Reviews. Systems Biology and Medicine·Laura L BaxterWilliam J Pavan
Jan 22, 2013·Veterinary Dermatology·Koji Nishifuji, Ji Seon Yoon
Sep 26, 2006·Journal of Dermatological Science·Külli KingoSulev Kõks
Jan 15, 2014·The International Journal of Biochemistry & Cell Biology·Gnaneshwar V YadavNaoya Kenmochi
Feb 5, 2016·Neonatal Network : NN·Mondell Avril, Cheryl Riley
Apr 13, 2021·Veterinary Dermatology·Zihao DengMarina R Carpinelli

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