Highly effective SNP-based association mapping and management of recessive defects in livestock.
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.
Charlier
Carole
C
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.
Coppieters
Wouter
W
Rollin
Frédéric
F
Desmecht
Daniel
D
Agerholm
Jorgen S
JS
Cambisano
Nadine
N
Carta
Eloisa
E
Dardano
Sabrina
S
Dive
Marc
M
Fasquelle
Corinne
C
Frennet
Jean-Claude
JC
Hanset
Roger
R
Hubin
Xavier
X
Jorgensen
Claus
C
Karim
Latifa
L
Kent
Matthew
M
Harvey
Kirsten
K
Pearce
Brian R
BR
Simon
Patricia
P
Tama
Nico
N
Nie
Haisheng
H
Vandeputte
Sébastien
S
Lien
Sigbjorn
S
Longeri
Maria
M
Fredholm
Merete
M
Harvey
Robert J
RJ
Georges
Michel
M
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
D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D005819:Genetic Markers; D050487:Glycine Plasma Membrane Transport Proteins; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases