Ontology highlight
ABSTRACT:
SUBMITTER: Littlejohn MD
PROVIDER: S-EPMC4284646 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Littlejohn Mathew D MD Henty Kristen M KM Tiplady Kathryn K Johnson Thomas T Harland Chad C Lopdell Thomas T Sherlock Richard G RG Li Wanbo W Lukefahr Steven D SD Shanks Bruce C BC Garrick Dorian J DJ Snell Russell G RG Spelman Richard J RJ Davis Stephen R SR
Nature communications 20141218
Lactation, hair development and homeothermy are characteristic evolutionary features that define mammals from other vertebrate species. Here we describe the discovery of two autosomal dominant mutations with antagonistic, pleiotropic effects on all three of these biological processes, mediated through the prolactin signalling pathway. Most conspicuously, mutations in prolactin (PRL) and its receptor (PRLR) have an impact on thermoregulation and hair morphology phenotypes, giving prominence to th ...[more]