Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse1

Lewis, S. L.; Holl, Heather M.; Streeter, Cassandra; Posbergh, Christian J.; Schanbacher, B.J.; Place, Ned J.; Mallicote, Martha; Long, Maureen T.; Brooks, Samantha A.

doi:10.2527/jas.2016.1221

Cited by 19 publications

(11 citation statements)

References 34 publications

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“…The addition of the polyadenylation tail to the 3′UTR is also essential to ensure proper processing and translation of the mRNA strand 57 . Mutations in the 3′UTR can lead to degradation of the mRNA, resulting in reduced or inhibited translation even when the gene is transcribed 58 . Variation in the 3′UTR of genes are associated with a number of diseases including Huntington’s and breast cancer in humans 59 , 60 .…”

Section: Discussionmentioning

confidence: 99%

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A genome-wide scan for candidate lethal variants in Thoroughbred horses

Todd

Thomson

Hamilton

et al. 2020

Sci Rep

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Domestic animal populations are often characterised by high rates of inbreeding and low effective population sizes due to selective breeding practices. These practices can result in otherwise rare recessive deleterious alleles drifting to high frequencies, resulting in reduced fertility rates. This study aimed to identify potential recessive lethal haplotypes in the Thoroughbred horse breed, a closed population that has been selectively bred for racing performance. In this study, we identified a haplotype in the LY49B gene that shows strong evidence of being homozygous lethal, despite having high frequencies of heterozygotes in Thoroughbreds and other domestic horse breeds. Variant analysis of whole-genome sequence data identified two SNPs in the 3′UTR of the LY49B gene that may result in loss of function. Analysis of transcriptomic data from equine embryonic tissue revealed that LY49B is expressed in the trophoblast during placentation stage of development. These findings suggest that LY49B may have an essential, but as yet unknown function in the implantation stage of equine development. Further investigation of this region may allow for the development of a genetic test to improve fertility rates in horse populations. Identification of other lethal variants could assist in improving natural levels of fertility in horse populations.

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Section: Discussionmentioning

confidence: 99%

“…Variation in the 3′UTR of genes are associated with a number of diseases including Huntington’s and breast cancer in humans 59 , 60 . Additionally, SNPs in the 3′UTR are associated with traits in livestock including milk production in cows, muscularity in sheep and obesity in horses 58 , 61 , 62 .…”

Section: Discussionmentioning

confidence: 99%

A genome-wide scan for candidate lethal variants in Thoroughbred horses

Todd

Thomson

Hamilton

et al. 2020

Sci Rep

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“…does have many similarities. Laminitis may have a genetic basis in some breeds . Rotational laminitis is described as rotation and dropping of the distal phalanx within the hoof due to separation of the primary and secondary lamellae which attach the bone to the hoof wall .…”

Section: Discussionmentioning

confidence: 99%

Nail abnormalities identified in an ageing study of 30 inbred mouse strains

Mustonen

Silva

Kennedy

et al. 2018

Experimental Dermatology

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In a large-scale ageing study, 30 inbred mouse strains were systematically screened for histologic evidence of lesions in all organ systems. Ten strains were diagnosed with similar nail abnormalities. The highest frequency was noted in NON/ShiLtJ mice. Lesions identified fell into two main categories: acute to chronic penetration of the third phalangeal bone through the hyponychium with associated inflammation and bone remodelling or metaplasia of the nail matrix and nail bed associated with severe orthokeratotic hyperkeratosis replacing the nail plate. Penetration of the distal phalanx through the hyponychium appeared to be the initiating feature resulting in nail abnormalities. The accompanying acute to subacute inflammatory response was associated with osteolysis of the distal phalanx. Evaluation of young NON/ShiLtJ mice revealed that these lesions were not often found, or affected only one digit. The only other nail unit abnormality identified was sporadic subungual epidermoid inclusion cysts which closely resembled similar lesions in human patients. These abnormalities, being age-related developments, may have contributed to weight loss due to impacts upon feeding and should be a consideration for future research due to the potential to interact with other experimental factors in ageing studies using the affected strains of mice.

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“…Out of 109 horses volunteered through the initial online survey, 50 were excluded due to insufficient age (target age range >8 years old), or were currently receiving medications that could interfere with test results (primarily phenylbutazone in the case of the lameness exam, as well as cyproheptadine, and pergolide). Horses used in this study were also utilized in a concurrent genome-wide association, therefore [ 26 ], this effort targeted only pure-bred Arabians and some candidates were excluded due to mixed or unknown ancestry. Privately-owned farms were visited for sampling if at least one horse present was previously diagnosed or suspected, by a veterinarian or owner, of suffering from EMS.…”

Section: Methodsmentioning

confidence: 99%

Use of principle component analysis to quantitatively score the equine metabolic syndrome phenotype in an Arabian horse population

et al. 2018

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Equine metabolic syndrome (EMS), like human metabolic syndrome, comprises a collection of clinical signs related to obesity, insulin dysregulation and susceptibility to secondary inflammatory disease. Although the secondary conditions resulting from EMS can be life-threatening, diagnosis is not straightforward and often complicated by the presence of other concurrent conditions like pituitary pars intermedia dysfunction (PPID). In order to better characterize EMS, we sought to describe the variation within, and correlations between, typical physical and endocrine parameters for EMS. Utilizing an unsupervised statistical approach, we evaluated a population of Arabian horses using a physical examination including body measurements, as well as blood plasma insulin, leptin, ACTH, glucose, and lipid values. We investigated the relationships among these variables using principle component analysis (PCA), hierarchical clustering, and linear regression. Owner-assigned assessments of body condition were one full score (on a nine-point scale) lower than scores assigned by researchers, indicating differing perception of healthy equine body weight. Rotated PCA defined two factor scores explaining a total of 46.3% of variation within the dataset. Hierarchical clustering using these two factors revealed three groups corresponding well to traditional diagnostic categories of “Healthy”, “PPID-suspect”, and “EMS-suspect” based on the characteristics of each group. Proxies estimating up to 93.4% of the composite “EMS-suspect” and “PPID-suspect” scores were created using a reduced set of commonly used diagnostic variables, to facilitate application of these quantitative scores to horses of the Arabian breed in the field. Use of breed-specific, comprehensive physical and endocrinological variables combined in a single quantitative score may improve detection of horses at-risk for developing EMS, particularly in those lacking severe clinical signs. Quantification of EMS without the use of predetermined reference ranges provides an advantageous approach for future studies utilizing genomic or metabolomics approaches to improve understanding of the etiology behind this troubling condition.

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Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse1

Cited by 19 publications

References 34 publications

A genome-wide scan for candidate lethal variants in Thoroughbred horses

A genome-wide scan for candidate lethal variants in Thoroughbred horses

Nail abnormalities identified in an ageing study of 30 inbred mouse strains

Use of principle component analysis to quantitatively score the equine metabolic syndrome phenotype in an Arabian horse population

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