A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs.

ABSTRACT:

Background

Genesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs) is much rarer than genomic events that alter existing CREs such as transposition, promoter switching or co-option. Only one case of de novo generation has been reported to date, in fish and without involvement of phenotype alteration. Yet, this event likely occurs in other animals and helps drive genetic/phenotypic variation.

Results

Using a porcine model of spontaneous hearing loss not previously characterized we performed gene mapping and mutation screening to determine the genetic foundation of the phenotype. We identified a mutation in the non-regulatory region of the melanocyte-specific promoter

SUBMITTER: Chen L 

PROVIDER: S-EPMC4922063 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature