title: Highly effective SNP-based association mapping and management of recessive defects in livestock.
abstract: 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.
authors.affiliation: Unit of Animal Genomics, GIGA-Research and Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège (B34), 1 Avenue de l'Hôpital, 4000 Liège, Belgium.
authors.forename: Carole
authors.initials: C
authors.lastname: Charlier
authors.forename: Wouter
authors.initials: W
authors.lastname: Coppieters
authors.forename: Frédéric
authors.initials: F
authors.lastname: Rollin
authors.forename: Daniel
authors.initials: D
authors.lastname: Desmecht
authors.forename: Jorgen S
authors.initials: JS
authors.lastname: Agerholm
authors.forename: Nadine
authors.initials: N
authors.lastname: Cambisano
authors.forename: Eloisa
authors.initials: E
authors.lastname: Carta
authors.forename: Sabrina
authors.initials: S
authors.lastname: Dardano
authors.forename: Marc
authors.initials: M
authors.lastname: Dive
authors.forename: Corinne
authors.initials: C
authors.lastname: Fasquelle
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Frennet
authors.forename: Roger
authors.initials: R
authors.lastname: Hanset
authors.forename: Xavier
authors.initials: X
authors.lastname: Hubin
authors.forename: Claus
authors.initials: C
authors.lastname: Jorgensen
authors.forename: Latifa
authors.initials: L
authors.lastname: Karim
authors.forename: Matthew
authors.initials: M
authors.lastname: Kent
authors.forename: Kirsten
authors.initials: K
authors.lastname: Harvey
authors.forename: Brian R
authors.initials: BR
authors.lastname: Pearce
authors.forename: Patricia
authors.initials: P
authors.lastname: Simon
authors.forename: Nico
authors.initials: N
authors.lastname: Tama
authors.forename: Haisheng
authors.initials: H
authors.lastname: Nie
authors.forename: Sébastien
authors.initials: S
authors.lastname: Vandeputte
authors.forename: Sigbjorn
authors.initials: S
authors.lastname: Lien
authors.forename: Maria
authors.initials: M
authors.lastname: Longeri
authors.forename: Merete
authors.initials: M
authors.lastname: Fredholm
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Harvey
authors.forename: Michel
authors.initials: M
authors.lastname: Georges
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D000829:Animals, Domestic / Q000235:genetics* / Q000254:growth & development; D001947:Breeding; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D002478:Cells, Cultured; D002874:Chromosome Mapping; D017931:DNA Primers / Q000737:chemistry; D004421:Dystonia / Q000151:congenital / Q000235:genetics / Q000662:veterinary; D005260:Female; D020869:Gene Expression Profiling; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics*; D050487:Glycine Plasma Membrane Transport Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D040641:Quantitative Trait Loci; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics; D017386:Sequence Homology, Amino Acid
chemical_list: D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D005819:Genetic Markers; D050487:Glycine Plasma Membrane Transport Proteins; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases