title: Single nucleotide polymorphisms within the bovine DLK1-DIO3 imprinted domain are associated with economically important production traits in cattle.
abstract: Previous studies show that DNA sequence variation within the mammalian DLK1-DIO3 imprinted domain influences production traits in domestic livestock, most notably the ovine callipyge phenotype. We assessed genotype-phenotype associations between 7 single nucleotide polymorphisms (SNPs) within the orthologous bovine DLK1-DIO3 domain and performance traits in 848 progeny-tested Holstein-Friesian dairy sires. One SNP (MEG3_01) located proximal to the maternally expressed 3 (MEG3/Gtl2) gene was associated with milk yield, subcutaneous fat levels, and progeny carcass conformation (P ≤ 0.01) and also tended to be associated with milk fat and protein yield (P ≤ 0.10). A single SNP (CLPG_01) within the putative CLPG1 locus was associated with progeny carcass fat (P ≤ 0.05), whereas a single SNP (PEG11_01) located proximal to the paternally expressed 11 (PEG11/Rtl) gene was associated with progeny carcass weight (P ≤ 0.05). The MEG3_01 SNP together with an additional 2 SNPs (MEG8_01 and MEG8_02) located proximal to the putative maternally expressed 8 (MEG8/Rian) ortholog were associated (P ≤ 0.05) with perinatal mortality. Finally, one SNP (MEG3_03) was associated (P ≤ 0.05) with gestation length, whereas both the CLPG_01 and MEG8_01 SNPs also tended to be associated with calving interval (P ≤ 0.10). Linkage disequilibrium analysis suggests that some phenotypic associations observed at these loci are independent. To our knowledge, this is one of the first studies demonstrating associations between the bovine DLK1-DIO3 domain and milk, carcass, fertility and, health traits in cattle. This imprinted domain may serve as a potential target for future genetic selection strategies.
authors.affiliation: Animal Genomics Laboratory, UCD School of Agriculture, Food Science and Veterinary Medicine, University College Dublin, Belfield, Dublin 4, Ireland. david.magee@ucd.ie
authors.forename: David A
authors.initials: DA
authors.lastname: Magee
authors.forename: Donagh P
authors.initials: DP
authors.lastname: Berry
authors.forename: Erik W
authors.initials: EW
authors.lastname: Berkowicz
authors.forename: Klaudia M
authors.initials: KM
authors.lastname: Sikora
authors.forename: Dawn J
authors.initials: DJ
authors.lastname: Howard
authors.forename: Michael P
authors.initials: MP
authors.lastname: Mullen
authors.forename: Ross D
authors.initials: RD
authors.lastname: Evans
authors.forename: Charles
authors.initials: C
authors.lastname: Spillane
authors.forename: David E
authors.initials: DE
authors.lastname: MacHugh
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle / Q000235:genetics*; D016000:Cluster Analysis; D005260:Female; D015870:Gene Expression; D018392:Genomic Imprinting; D005838:Genotype; D015810:Linkage Disequilibrium; D008297:Male; D008892:Milk / Q000737:chemistry*; D008969:Molecular Sequence Data; D005810:Multigene Family; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D017422:Sequence Analysis, DNA