1. Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.
- Author
-
Littlejohn MD, Henty KM, Tiplady K, Johnson T, Harland C, Lopdell T, Sherlock RG, Li W, Lukefahr SD, Shanks BC, Garrick DJ, Snell RG, Spelman RJ, and Davis SR
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, Body Temperature, Cattle, Female, Gene Expression, Genetic Pleiotropy, Genotype, Hair ultrastructure, Homeostasis, Humans, Molecular Sequence Data, Phenotype, Prolactin metabolism, Receptors, Prolactin genetics, Receptors, Prolactin metabolism, Skin anatomy & histology, Skin metabolism, Body Temperature Regulation genetics, Hair metabolism, Lactation genetics, Mutation, Prolactin genetics, Signal Transduction
- 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.
- Published
- 2014
- Full Text
- View/download PDF