Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.

ABSTRACT:

Background

Atopic dermatitis (AD) is a major inflammatory condition of the skin caused by inherited skin barrier deficiency, with mutations in the filaggrin gene predisposing to development of AD. Support for barrier deficiency initiating AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gene, matted, causing a matted hair phenotype.

Objective

We sought to identify the matted mutant gene in mice and further define whether mutations in the human gene were associated with AD.

Methods

A mouse genetics approach was used to separate the matted and Flg mutations to produce congenic single-mutant strains for genetic and immunologic analysis. Next-generation sequencing was used to identify the matted gene. Five independently recru

SUBMITTER: Saunders SP 

PROVIDER: S-EPMC3834151 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature