All sheeps and sizes: a genetic investigation of mature body size across sheep breeds reveals a polygenic nature.

Mature body size is genetically correlated with growth rate, an important economic trait in the sheep industry. Mature body size has been studied extensively in humans as well as cattle and other domestic animal populations but not in sheep. Six-hundred and sixteen ewes, across 22 breeds, were measured for 28 linear measurements representing various skeletal parts. PCA from these measures generated principal components 1 and 2 which represented 66 and 7% of the phenotypic variation respectively. Two-hundred and twenty sheep were genotyped on the Illumina Ovine HD beadchip for a GWAS investigating mature body size and linear body measurements. Forty-six (Bonferroni P < 0.05) SNP associations across 14 chromosomes were identified utilizing principal component 1, representing overall body size, revealing mature body size to have fewer loci of large effect than other domestic species such as dogs and horses. Genome-wide associations for individual linear measures identified major quantitative trait loci for withers height and ear length. Withers height was associated (Bonferroni P < 0.05) with 12 SNPs across six chromosomes whereas ear length was associated with a single locus on chromosome 3, containing MSRB3. This analysis identified several loci known to be associated with mature body size in other species such as NCAPG, LCORL, and HMGA2. Mature body size is more polygenic in sheep than other domesticated species, making the development of genomic selection for the trait the most efficient option for maintaining or reducing mature body size in sheep.

Further testing of Melatonin Receptor 1a for out-of-season reproduction in the Cornell flock and allelic frequencies compared with Romney sheep.

Sheep are seasonally polyestrous breeders, meaning they breed when day length shortens in the autumn. Ewes respond to changing day length through chemical pathways involving melatonin receptors. Some breeds, such as Dorset, are known to be less seasonal with many ewes able to breed and lamb year-round. The Melatonin Receptor 1a () gene was identified as a candidate gene controlling out-of-season lambing. The first studies in the Cornell STAR accelerated lambing flock found that a allele was associated with a shorter time to first lambing and a shorter period between lambings. The favorable allele was denoted the allele and the unfavorable allele, the allele. This study evaluated additional data for the effect of the polymorphism on sheep reproduction. Genotypic frequencies among the 320 sheep in this study differed between Romney and breeds selected for accelerated lambing ( < 0.02), but they did not deviate from Hardy-Weinberg equilibrium. Using 228 ewes from the Cornell University flock, we found no association ( > 0.05) between the allele and success for out-of-season lambing and no significant differences were observed in several production measures, such as number of lambs delivered per yr or number of lambs weaned ( > 0.05). With few ewes in the flock, these results may be due to the high level of selection for accelerated lambing. This study shows that the allele may not be a beneficial marker for use within flocks seeking to improve production and the ability to lamb out-of-season. These findings warrant additional research on the genetics of aseasonality in sheep.

Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse.

Equine obesity can cause life-threatening secondary chronic conditions, similar to those in humans and other animal species. Equine metabolic syndrome (EMS), primarily characterized by hyperinsulinemia, is often present in obese horses and ponies. Due to clinical similarities to conditions such as pituitary pars intermedia dysfunction (formerly equine Cushing's disease), conclusive diagnosis of EMS often proves challenging. Aside from changes in diet and exercise, few targeted treatments are available for EMS, emphasizing the need for early identification of at-risk individuals to enable implementation of preventative measures. A genomewide association study (GWAS) using Arabian horses with a history of severe laminitis secondary to EMS revealed significant genetic markers near a single candidate gene () that may play a role in cholesterol homeostasis. The best marker, BIEC2-263524 (chr14:69276814 T > C), was correlated with elevated insulin values and increased frequency of laminitis ( = 0.0024 and = 9.663 × 10, respectively). In a second population of Arabian horses, the BIEC2-263524 marker maintained its associations with higher modified insulin-to-glucose ratio (MIRG) values ( = 0.0056) and BCS ( = 0.0063). Screening of the predicted coding regions by sequencing identified a polymorphic guanine homopolymer and 5 haplotypes in the 3' untranslated region (UTR). An 11 guanine (11-G) allele at was correlated with elevated insulin values in the GWAS population ( = 0.0008) and, in the second population, elevated MIRG and increased BCS > 6.5 ( = 0.0055 and = 0.0162, respectively). The BIEC2-263524-C and the 3' UTR -11(G) polymorphisms were correlated at a 98% frequency, indicating strong linkage disequilibrium across this 150-kb haplotype. Assays for these markers could diagnose horses with a genetic predisposition to develop obesity. Additionally, discovery of FAM174A function may improve our understanding of the etiology of this troubling illness in the horse and warrants investigation of this locus for a role in metabolic- and obesity-related disorders of other species.