Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

Nat Commun. 2014 Dec 18:5:5861. doi: 10.1038/ncomms6861.

Abstract

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 this pathway outside of its classical roles in lactation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Body Temperature
  • Body Temperature Regulation / genetics*
  • Cattle
  • Female
  • Gene Expression
  • Genetic Pleiotropy
  • Genotype
  • Hair / metabolism*
  • Hair / ultrastructure
  • Homeostasis
  • Humans
  • Lactation / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Prolactin / genetics*
  • Prolactin / metabolism
  • Receptors, Prolactin / genetics
  • Receptors, Prolactin / metabolism
  • Signal Transduction*
  • Skin / anatomy & histology
  • Skin / metabolism

Substances

  • Receptors, Prolactin
  • Prolactin

Associated data

  • SRA/SRP043521
  • Dryad/10.5061/dryad.NH6V4