Cis-acting regulatory mutations play a prominent role for shaping phenotypic diversity in domestic animals

by Leif Andersson (Department of Medical Biochemistry and Microbiology, Uppsala University)

Wednesday 22 Oct 2008, 16:00 → 17:00 Europe/Stockholm

RB35 (RB35)

Domestic animals provide unique opportunities to study genotype-phenotype relationships due to their long history (thousands of year) of strong phenotypic selection. Phenotypic differences between and within populations of domestic animals are primarily caused by alleles with no or only weak deleterious effects. Thus, alleles underlying phenotypic traits in domestic animals provide a valuable complement to the rich collection of loss-of-function mutations established in model organisms. A number of the recent gene identifications we have made are caused by cis-acting regulatory mutations. These include genes controlling muscle growth in pigs, white spotting in dogs, yellow skin in chicken and greying with age in horses. The strategies used for the identification of the causal mutations and our attempts to reveal the mechanism of action will be discussed.