Domestic animals as models for biomedical research
2016 (English)In: Upsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 121, no 1, 1-11 p.Article, review/survey (Refereed) PublishedText
Domestic animals are unique models for biomedical research due to their long history (thousands of years) of strong phenotypic selection. This process has enriched for novel mutations that have contributed to phenotype evolution in domestic animals. The characterization of such mutations provides insights in gene function and biological mechanisms. This review summarizes genetic dissection of about 50 genetic variants affecting pigmentation, behaviour, metabolic regulation, and the pattern of locomotion. The variants are controlled by mutations in about 30 different genes, and for 10 of these our group was the first to report an association between the gene and a phenotype. Almost half of the reported mutations occur in non-coding sequences, suggesting that this is the most common type of polymorphism underlying phenotypic variation since this is a biased list where the proportion of coding mutations are inflated as they are easier to find. The review documents that structural changes (duplications, deletions, and inversions) have contributed significantly to the evolution of phenotypic diversity in domestic animals. Finally, we describe five examples of evolution of alleles, which means that alleles have evolved by the accumulation of several consecutive mutations affecting the function of the same gene.
Place, publisher, year, edition, pages
2016. Vol. 121, no 1, 1-11 p.
mutation detection, Comparative genomics, domestic animals
IdentifiersURN: urn:nbn:se:uu:diva-298962DOI: 10.3109/03009734.2015.1091522ISI: 000372123700001PubMedID: 26479863OAI: oai:DiVA.org:uu-298962DiVA: diva2:948665
FunderSwedish Research Council FormasSwedish Research CouncilKnut and Alice Wallenberg FoundationEU, European Research Council