Journal Article

Highly effective SNP-based association mapping and management of recessive defects in livestock

Carta, Eloisa, Pearce, Brian R, Longeri, Maria, Hubin, Xavier, Vandeputte, Sébastien, Charlier, Carole, Georges, Michel, Frennet, Jean-Claude, Tamma, Nico, Karim, Latifa, Dive, Marc, Cambisano, Nadine, Rollin, Frédéric, Nie, Haisheng, Harvey, Kirsten, Simon, Patricia, Lien, Sigbjorn, Coppieters, Wouter, Hanset, Roger, Desmecht, Daniel, Fasquelle, Corinne, Harvey, Robert J, Dardano, Sabrina, Jorgensen, Claus, Fredholm, Merete, Agerholm, Jorgen S, Kent, Matthew

2008

Overview

The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects. We report the fine-scale mapping of five recessive disorders in cattle and the molecular basis for three of these: congenital muscular dystony (CMD) types 1 and 2 in Belgian Blue cattle and ichthyosis fetalis in Italian Chianina cattle. Identification of these causative mutations has an immediate translation into breeding practice, allowing marker assisted selection against the defects through avoidance of at-risk matings.

• Publisher: Nature Publishing Group,Nature Publishing Group US,Nature
• Subject: Agriculture / Amino Acid Sequence / Animal breeding / Animal Genetics and Genomics / Animal welfare / Animals / Animals, Domestic - genetics / Animals, Domestic - growth & development / Animals, Domestic/genetics/growth & development / Artificial insemination / ATP-Binding Cassette Transporters - genetics / Biological and medical sciences / Biomedical and Life Sciences / Biomedicine / Breeding / Breeding methods / Breeding of animals / Cancer Research / Cattle / Cattle Diseases - genetics / Cells, Cultured / Chromosome Mapping / DNA Primers - chemistry / Dystonia - congenital / Dystonia - genetics / Dystonia - veterinary / Dystonia/congenital/genetics/veterinary / Economics / Female / Fundamental and applied biological sciences. Psychology / Gene Expression Profiling / Gene Function / Gene mutations / Genes, Recessive - genetics / Genetic aspects / Genetic disorders / Genetic Linkage / Genetic Markers - genetics / genetic processes / Genetics / Genetics & genetic processes / Genetics of eukaryotes. Biological and molecular evolution / Genomics / Glycine Plasma Membrane Transport Proteins - genetics / Génétique & processus génétiques / Health aspects / Human Genetics / Humans / Identification and classification / letter / Life sciences / Livestock / Livestock breeding / Male / Methods / Molecular Sequence Data / Mutation / Oligonucleotide Array Sequence Analysis / Phenotype / Polymorphism, Single Nucleotide - genetics / Quantitative Trait Loci / Sarcoplasmic Reticulum Calcium-Transporting ATPases - genetics / Sciences du vivant / Sequence Homology, Amino Acid / Single nucleotide polymorphisms / Skin diseases