Single nucleotide polymorphisms within the bovine dlk1-dio3 imprinted domain are associated with economically important production traits in cattle
Magee, David A.
Berry, Donagh P.
Berkowicz, Erik W.
Sikora, Klaudia M.
Howard, Dawn J.
Mullen, Michael P.
Evans, Ross D.
MacHugh, David E.
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Magee, David A. Berry, Donagh P.; Berkowicz, Erik W.; Sikora, Klaudia M.; Howard, Dawn J.; Mullen, Michael P.; Evans, Ross D.; Spillane, Charles; MacHugh, David E. (2010). Single nucleotide polymorphisms within the bovine dlk1-dio3 imprinted domain are associated with economically important production traits in cattle. Journal of Heredity 102 (1), 94-101
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 &lt; 0.01) and also tended to be associated with milk fat and protein yield (P &lt; 0.10). A single SNP (CLPG_01) within the putative CLPG1 locus was associated with progeny carcass fat (P &lt; 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 &lt; 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 &lt; 0.05) with perinatal mortality. Finally, one SNP (MEG3_03) was associated (P &lt; 0.05) with gestation length, whereas both the CLPG_01 and MEG8_01 SNPs also tended to be associated with calving interval (P &lt; 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.