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Topic:Genes

Genes in horses are segments of DNA that encode the biological instructions necessary for the development, functioning, and reproduction of equine species. These genetic sequences influence a wide range of traits, including coat color, speed, endurance, and susceptibility to diseases. Genetic research in horses focuses on identifying specific genes and genetic markers associated with these traits, as well as understanding the inheritance patterns and genetic diversity within and between horse breeds. Studies in equine genetics contribute to breeding programs, disease prevention strategies, and the overall understanding of horse biology. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and implications of genes in equine health and performance.
Differential Expression of IGF1, IGFBP5, MSTN, and MYH1 Across Different Age Classes in American Quarter Horses.
Journal of equine veterinary science    August 15, 2020   Volume 94 103226 doi: 10.1016/j.jevs.2020.103226
Peters S, Wilson J, Boyette J.The objective of this study was to determine the influence of age on expression of insulin-like growth factor 1 (IGF1), insulin-like growth factor binding protein (IGFBP5), myostatin (MSTN), and myosin (MYH1) genes which are related to growth and muscle development in the American Quarter Horse. Thus, horses (n = 10) from weanling, yearling, 2-, 3-, and 10-year-old age classes were sampled and gene expression was assessed by RT-qPCR. ΔC was calculated using the hypoxanthine-guanine phosphoribosyltransferase gene as an internal normalizer. The generalized linear model was used to determine di...
Expression of xenobiotic metabolising enzymes in lungs of horses with or without histological evidence of lower airway inflammation.
Veterinary medicine and science    August 13, 2020   Volume 7, Issue 1 16-24 doi: 10.1002/vms3.331
Löfgren M, Larsson P, Lindberg R, Hörnaeus K, Tydén E.Mild, moderate and severe equine asthma is a problem for equine welfare. The aetiology of the disease is not known in detail but is likely multi-factorial. One important factor may be inhaled dust which carries harmful substances which may be bioactivated and thus can lead to local inflammation in the airways. The aim of this study was to investigate gene expression and protein localisation of cytochrome P450 (CYP) enzymes, superoxide dismutase and glutathione-S-transferases (GST) involved in bioactivation and detoxification of harmful substances in lungs of horses with or without histological...
Affecting Lipid Metabolism Salivary MicroRNAs Expressions in Arabian Racehorses Before and After the Race.
Journal of equine veterinary science    August 8, 2020   Volume 93 103218 doi: 10.1016/j.jevs.2020.103218
Ekici S, Ozmen O.The active roles of microribonucleic acids (miRNAs) in gene regulation have made miRNAs a key point for the scientific world in the study of physiological processes. Although saliva includes the largest number of miRNAs, there is no miRNA study in saliva on horses has been found. Our study is the first study on miRNAs isolation from saliva in horses. In the present study, saliva was studied in Arabian racehorses to better understand the molecular mechanisms of expression levels that are effective in lipid metabolism of miRNAs and their target genes during the race. Identification of lipid meta...
Detection of non-targeted transgenes by whole-genome resequencing for gene-doping control.
Gene therapy    August 7, 2020   Volume 28, Issue 3-4 199-205 doi: 10.1038/s41434-020-00185-y
Tozaki T, Ohnuma A, Takasu M, Nakamura K, Kikuchi M, Ishige T, Kakoi H, Hirora KI, Tamura N, Kusano K, Nagata SI.Gene doping has raised concerns in human and equestrian sports and the horseracing industry. There are two possible types of gene doping in the sports and racing industry: (1) administration of a gene-doping substance to postnatal animals and (2) generation of genetically engineered animals by modifying eggs. In this study, we aimed to identify genetically engineered animals by whole-genome resequencing (WGR) for gene-doping control. Transgenic cell lines, in which the erythropoietin gene (EPO) cDNA form was inserted into the genome of horse fibroblasts, were constructed as a model of genetica...
Variation in the SLC16A1 and the ACOX1 Genes Is Associated with Gallop Racing Performance in Arabian Horses.
Journal of equine veterinary science    August 5, 2020   Volume 93 103202 doi: 10.1016/j.jevs.2020.103202
Fontanel M, Todd E, Drabbe A, Ropka-Molik K, Stefaniuk-Szmukier M, Myćka G, Velie BD.Arabian horses are not only one of the most ancient breeds in the world, but they are also one of the most appreciated racehorse breeds today. The breed generates attention for their phenomenal endurance ability and their capability for gallop racing. Consequently, genetic testing to select the best individuals is attracting ever increasing interests from the Arabian industry. As such, the aim of this study was to further investigate associations between performance and variation at candidate genes suspected of having a key role in Arabian gallop racing performance. Generalized linear models w...
A genome-wide scan for candidate lethal variants in Thoroughbred horses.
Scientific reports    August 4, 2020   Volume 10, Issue 1 13153 doi: 10.1038/s41598-020-68946-8
Todd ET, Thomson PC, Hamilton NA, Ang RA, Lindgren G, Viklund Å, Eriksson S, Mikko S, Strand E, Velie BD.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 h...
Molecular approaches to equine sarcoids.
Equine veterinary journal    August 3, 2020   Volume 53, Issue 2 221-230 doi: 10.1111/evj.13322
Semik-Gurgul E.Sarcoids are the most commonly diagnosed skin tumours in equines. Bovine papillomaviruses (BPVs) are the primary causative agent of sarcoids. There has been intensive research to discover the molecular mechanisms that may contribute to the aetiopathogenesis of this disease and tumour suppressors and proto-oncogenes known to play a role in human neoplastic conditions have been investigated in equine sarcoids. Current approaches include the identification of gene expression profiles, characterising sarcoid and normal skin tissues, and an assessment of epigenetic alterations such as microRNA diff...
Exome analysis and functional classification of identified variants in racing Quarter Horses.
Animal genetics    July 21, 2020   Volume 51, Issue 5 716-721 doi: 10.1111/age.12976
Curi RA, Pereira GL, Alvarez MVN, Baldassini WA, Machado Neto OR, Chardulo LAL.The main objectives of this study were to identify and functionally classify SNPs and indels by exome sequencing of animals of the racing line of Quarter Horses. Based on the individual genomic estimated breeding values (GEBVs) for maximum speed index (SImax) obtained for 349 animals, two groups of 20 extreme animals were formed. Of these individuals, 20 animals with high GEBVs for SImax and 19 with low GEBVs for SImax had their exons and 5' and 3' UTRs sequenced. Considering SNPs and indels, 105 182 variants were identified in the expressed regions of the Quarter Horse genome. Of these, 72 ...
Comparative population genomic analysis uncovers novel genomic footprints and genes associated with small body size in Chinese pony.
BMC genomics    July 20, 2020   Volume 21, Issue 1 496 doi: 10.1186/s12864-020-06887-2
Asadollahpour Nanaei H, Esmailizadeh A, Ayatollahi Mehrgardi A, Han J, Wu DD, Li Y, Zhang YP.Body size is considered as one of the most fundamental properties of an organism. Due to intensive breeding and artificial selection throughout the domestication history, horses exhibit striking variations for heights at withers and body sizes. Debao pony (DBP), a famous Chinese horse, is known for its small body size and lives in Guangxi mountains of southern China. In this study, we employed comparative population genomics to study the genetic basis underlying the small body size of DBP breed based on the whole genome sequencing data. To detect genomic signatures of positive selection, we ap...
Genetics of Equine Neurologic Disease.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 255-272 doi: 10.1016/j.cveq.2020.03.006
Edwards L, Finno CJ.Neurologic disease in horses can be particularly challenging to diagnose and treat. These diseases can result in economic losses, emotional distress to owners, and injury to the horse or handlers. To date, there are 5 neurologic diseases caused by known genetic mutations and several more are suspected to be heritable: lethal white foal syndrome, lavender foal syndrome, cerebellar abiotrophy, occipitoatlantoaxial malformation, and Friesian hydrocephalus. Genetic testing allows owners, breeders, and veterinarians to make informed decisions when selecting dams and sires for breeding or deciding t...
Genetics of Equine Muscle Disease.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 353-378 doi: 10.1016/j.cveq.2020.03.012
Valberg SJ.There are 5 single-gene mutations that are known to cause muscle disease in horses. These mutations alter the amino acid sequence of proteins involved in cell membrane electrical conduction, muscle energy metabolism, muscle contraction, and immunogenicity. The clinical signs depend on the pathway affected. The likelihood that an animal with a mutation will exhibit clinical signs depends on the mode of inheritance, environmental influences, and interactions with other genes. Selection of a genetic test for use in diagnostic or breeding decisions requires a knowledge of clinical signs, mode of i...
Identification and Functional Annotation of Genes Related to Horses’ Performance: From GWAS to Post-GWAS.
Animals : an open access journal from MDPI    July 10, 2020   Volume 10, Issue 7 1173 doi: 10.3390/ani10071173
Littiere TO, Castro GHF, Rodriguez MDPR, Bonafé CM, Magalhães AFB, Faleiros RR, Vieira JIG, Santos CG, Verardo LL.Integration of genomic data with gene network analysis can be a relevant strategy for unraveling genetic mechanisms. It can be used to explore shared biological processes between genes, as well as highlighting transcription factors (TFs) related to phenotypes of interest. Unlike other species, gene-TF network analyses have not yet been well applied to horse traits. We aimed to (1) identify candidate genes associated with horse performance via systematic review, and (2) build biological processes and gene-TF networks from the identified genes aiming to highlight the most candidate genes for hor...
Draft genome sequence of the oomycete Pythium destruens strain ATCC 64221 from a horse with pythiosis in Australia.
BMC research notes    July 9, 2020   Volume 13, Issue 1 329 doi: 10.1186/s13104-020-05168-1
Krajaejun T, Kittichotirat W, Patumcharoenpol P, Rujirawat T, Lohnoo T, Yingyong W.Genome sequences are a vital resource for accelerating the biological exploration of an organism of interest. Pythium destruens (a synonym of Pythium insidiosum) causes a difficult-to-treat infectious disease called pythiosis worldwide. Detection and management of pythiosis are challenging. Basic knowledge of the disease is lacking. Genomes of this organism isolated from different continents (i.e., Asia and the Americas) have been sequenced and publicly available. Here, we sequenced the genome of an Australian isolate of P. destruens. Genome data will facilitate the comparative analysis of thi...
Complex variation in the KLRA (LY49) immunity-related genomic region in horses.
HLA    July 2, 2020   Volume 96, Issue 3 257-267 doi: 10.1111/tan.13939
Futas J, Oppelt J, Janova E, Musilova P, Horin P.Natural killer (NK) cells play important roles in innate and adaptive immunity, as well as in the reproduction of placental mammals. Ly49 (KLRA) molecules represent a lectin-like type of NK cell receptor encoded within a complex genomic region, the NK cell complex. In rodents and horses, an expansion of the genes encoding Ly49 receptors leading to the formation of a gene family was observed. High sequence similarities and frequent high polymorphism of multiple family members represent an obstacle both for their individual identification and for annotation in the reference genomes of their resp...
Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.
Equine veterinary journal    June 25, 2020   Volume 53, Issue 2 306-315 doi: 10.1111/evj.13286
Williams ZJ, Velez-Irizarry D, Petersen JL, Ochala J, Finno CJ, Valberg SJ.Myofibrillar myopathy (MFM) of unknown aetiology has recently been identified in Warmblood (WB) horses. In humans, 16 genes have been implicated in various MFM-like disorders. Objective: To identify variants in 16 MFM candidate genes and compare allele frequencies of all variants between MFM WB and non-MFM WB and coding variants with moderate or severe predicted effects in MFM WB with publicly available data of other breeds. To compare differential gene expression and muscle fibre contractile force between MFM and non-MFM WB. Methods: Case-control. Methods: 8 MFM WB, 8 non-MFM WB, 33 other WB,...
Genetics of equine bleeding disorders.
Equine veterinary journal    June 23, 2020   Volume 53, Issue 1 30-37 doi: 10.1111/evj.13290
Dahlgren AR, Tablin F, Finno CJ.Genetic bleeding disorders can have a profound impact on a horse's health and athletic career. As such, it is important to understand the mechanisms of these diseases and how they are diagnosed. These diseases include haemophilia A, von Willebrand disease, prekallikrein deficiency, Glanzmann's Thrombasthenia and Atypical Equine Thrombasthenia. Exercise-induced pulmonary haemorrhage also has a proposed genetic component. Genetic mutations have been identified for haemophilia A and Glanzmann's Thrombasthenia in the horse. Mutations are known for von Willebrand disease and prekallikrein deficienc...
Edition of Prostaglandin E2 Receptors EP2 and EP4 by CRISPR/Cas9 Technology in Equine Adipose Mesenchymal Stem Cells.
Animals : an open access journal from MDPI    June 23, 2020   Volume 10, Issue 6 1078 doi: 10.3390/ani10061078
Mançanares ACF, Cabezas J, Manríquez J, de Oliveira VC, Wong Alvaro YS, Rojas D, Navarrete Aguirre F, Rodriguez-Alvarez L, Castro FO.In mesenchymal stem cells (MSCs), it has been reported that prostaglandin E2 (PGE2) stimulation of EP2 and EP4 receptors triggers processes such as migration, self-renewal, survival, and proliferation, and their activation is involved in homing. The aim of this work was to establish a genetically modified adipose (aMSC) model in which receptor genes EP2 and EP4 were edited separately using the CRISPR/Cas9 system. After edition, the genes were evaluated as to if the expression of MSC surface markers was affected, as well as the migration capacity in vitro of the generated cells. Adipose MSCs we...
High Frequencies of TNC and COL5A1 Genotypes Associated With Low Risk for Superficial Digital Flexor Tendinopathy in Greek Indigenous Horse Breeds Compared With Warmblood Horses.
Journal of equine veterinary science    June 20, 2020   Volume 92 103173 doi: 10.1016/j.jevs.2020.103173
Giantsis IA, Diakakis NE, Avdi M.Tendinopathies constitute a very common category of musculoskeletal disorders, causing economic losses in the equine industry and animal welfare issues in horse populations. Sport and racehorses are in general sensitive to tendinopathies, whereas local indigenous horse populations are often more tolerant to various disorders. Particularly, indigenous Greek horse breeds have evolved and adapted in the rough topographic features of mountainous and semimountainous Greek terrain and are less prone to develop tendinopathies. Susceptibility to tendinopathy has been proposed to be associated with thr...
Characterizing the Serum Proteome of Donkeys (Equus asinus).
Journal of equine veterinary science    June 20, 2020   Volume 92 103174 doi: 10.1016/j.jevs.2020.103174
Han Y, Tang C, Liao Q, Li Z, Deng L.Serum and plasma are commonly used in clinical practice considering the widely accepted fact that the "normal" protein expression pattern of a healthy animal changes under disease conditions. We herein used a label-free mass spectrometry-based quantitative proteomics approach to characterize the serum proteome of donkeys. A total of 277 unique proteins were identified from 2,388 unique peptides. Gene ontology analyses showed that the most frequent processes were related to metabolic activities and biological regulation, response to stimulus, and immune system processes. The main annotated area...
Effect of gallium maltolate on a model of chronic, infected equine distal limb wounds.
PloS one    June 19, 2020   Volume 15, Issue 6 e0235006 doi: 10.1371/journal.pone.0235006
Lawless SP, Cohen ND, Lawhon SD, Chamoun-Emanuelli AM, Wu J, Rivera-Vélez A, Weeks BR, Whitfield-Cargile CM.Distal limb wounds are common injuries sustained by horses and their healing is fraught with complications due to equine anatomy, prevalence of infection, and challenges associated with wound management. Gallium is a semi-metallic element that has been shown to possess antimicrobial properties and aid in wound healing in various preclinical models. The effects of Gallium have not been studied in equine wound healing. Therefore, the objective of this study was to compare healing rates between gallium-treated and untreated wounds of equine distal limbs and to demonstrate the antimicrobial effect...
Skin exhibits of Dark Ronald XX are homozygous wild type at the Warmblood fragile foal syndrome causative missense variant position in lysyl hydroxylase gene PLOD1.
Animal genetics    June 17, 2020   Volume 51, Issue 5 838-840 doi: 10.1111/age.12972
Zhang X, Hirschfeld M, Schafberg R, Swalve H, Brenig B.No abstract available
Expression of enzymes involved in polyunsaturated fatty acid synthesis in the stallion testis and epididymis.
Reproduction, fertility, and development    June 13, 2020   Volume 32, Issue 9 851-861 doi: 10.1071/RD19342
Gautier C, Scarlet D, Ertl R, Walter I, Wulf M, Nagel C, Aurich J, Aurich C.The aim of the present study was to characterise key enzymes involved in polyunsaturated fatty acid (PUFA) synthesis in the testis and epididymis collected from 2-year-old healthy warmblood stallions (n=10). The mRNA expression of fatty acid synthase, the Δ9-, Δ6-, Δ5- and Δ4-desaturases and elongases 6, 5 and 2 (encoded by the fatty acid synthase (FASN), the stearoyl-CoA desaturase (SCD), the fatty acid desaturase 2 (FADS2), the fatty acid desaturase 1 (FADS1), the delta 4-desaturase, sphingolipid 1 (DEGS1), ELOVL fatty acid elongase 6(ELOVL6), ELOVL fatty acid elongase 5 (ELOVL5), ELOVL ...
Genetics of Equine Reproductive Diseases.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 395-409 doi: 10.1016/j.cveq.2020.03.013
Raudsepp T.Reproductive disorders are genetically heterogeneous and complex; available genetic tests are limited to chromosome analysis and 1 susceptibility gene. Cytogenetic analysis should be the first test to confirm or rule out chromosomal aberrations. No causative genes/mutations are known. The only available genetic test for stallion subfertility is based on a susceptibility gene FKBP6. The ongoing progress in equine genomics will improve the status of genetic testing. However, because subfertile phenotypes do not facilitate collection of large numbers of samples or pedigrees, and clinical causes o...
Genetics of Equine Behavioral Traits.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 411-424 doi: 10.1016/j.cveq.2020.03.014
Wickens C, Brooks SA.Behavior is a valuable quantitative trait in the horse because of its impact on performance, work, recreation, and prerequisite close interactions with humans. This article reviews what is known about the genetics of behavior in horses with an emphasis on the genetic basis for temperament traits, neuroendocrine function, and stereotypic behavior. The importance of using modern molecular genetic techniques to the study of equine behavior and recommendations for future research are also discussed. Ultimately, these studies enhance the understanding of the biology of behavior in the horse, improv...
Unraveling the Genetics Behind Equid Cardiac Disease.
The Veterinary clinics of North America. Equine practice    June 10, 2020   Volume 36, Issue 2 235-241 doi: 10.1016/j.cveq.2020.03.004
Fousse SL, Stern JA.There have been some advances in understanding the genetic contribution to ventricular septal defects in Arabians, sudden death in racehorses, and atrial fibrillation in racehorses. No genetic analyses have been published for aortic rupture in Friesians or atrioventricular block in donkeys despite strong evidence for a genetic cause. To date, no genetic mutation has been identified for any equid cardiac disease. With the advancement of genetic tools and resources, we are moving closer to discoveries that may explain the heritable basis of inherited equid cardiac disease.
Comparative Transcriptome Profiling Analysis Uncovers Novel Heterosis-Related Candidate Genes Associated with Muscular Endurance in Mules.
Animals : an open access journal from MDPI    June 4, 2020   Volume 10, Issue 6 980 doi: 10.3390/ani10060980
Gao S, Nanaei HA, Wei B, Wang Y, Wang X, Li Z, Dai X, Wang Z, Jiang Y, Shao J.Heterosis has been widely exploited in animal and plant breeding programs to enhance the productive traits of hybrid progeny from two breeds or species. However, its underlying genetic mechanisms remain enigmatic. Transcriptome profiling analysis can be used as a method for exploring the mechanism of heterosis. Here, we performed genome-wide gene expression and alternative splicing (AS) analyses in different tissues (muscle, brain, and skin) from crosses between donkeys and horses. Our results indicated that 86.1% of the differentially expressed genes (DEGs) and 87.2% of the differential alter...
Molecular detection of tick-borne pathogens harbored by ticks collected from livestock in the Xinjiang Uygur Autonomous Region, China.
Ticks and tick-borne diseases    June 2, 2020   Volume 11, Issue 5 101478 doi: 10.1016/j.ttbdis.2020.101478
Li Y, Wen X, Li M, Moumouni PFA, Galon EM, Guo Q, Rizk MA, Liu M, Li J, Ji S, Tumwebaze MA, Byamukama B, Chahan B, Xuan X.Ticks carry and transmit a wide range of pathogens (bacteria, viruses, and protozoa) that are of importance to humans and animals globally. However, information about the tick-borne pathogens harbored by ticks in the Xinjiang Uygur Autonomous Region (XUAR), northwestern China, is scarce. This study investigated the occurrence of tick species of domestic animals and tick-borne pathogens by using morphological molecular identification and sequence analysis in Turpan, Qitai, Altay, Hejing, Nileke, and Zhaosu counties (XUAR). A total of 5822 adult ticks (females and males) from 12 tick species wer...
Identification of the novel polymorphisms and potential genetic features of the prion protein gene (PRNP) in horses, a prion disease-resistant animal.
Scientific reports    June 2, 2020   Volume 10, Issue 1 8926 doi: 10.1038/s41598-020-65731-5
Kim YC, Won SY, Do K, Jeong BH.Prion diseases, a protein misfolded disorder (PMD) caused by misfolded prion protein (PrP), present in a wide variety of hosts, ranging from ungulates to humans. To date, prion infections have not been reported in horses, which are well-known as prion disease-resistant animals. Several studies have attempted to identify distinctive features in the prion protein of horses compared to prion disease-susceptible animals, without the study on polymorphisms of the horse prion protein gene (PRNP). Since single nucleotide polymorphisms (SNPs) of PRNP in prion disease-susceptible animals are major susc...
An Independent Locus Upstream of ASIP Controls Variation in the Shade of the Bay Coat Colour in Horses.
Genes    May 30, 2020   Volume 11, Issue 6 606 doi: 10.3390/genes11060606
Corbin LJ, Pope J, Sanson J, Antczak DF, Miller D, Sadeghi R, Brooks SA.Novel coat colour phenotypes often emerge during domestication, and there is strong evidence of genetic selection for the two main genes that control base coat colour in horses- and . These genes direct the type of pigment produced, red pheomelanin () or black eumelanin (), as well as the relative concentration and the temporal-spatial distribution of melanin pigment deposits in the skin and hair coat. Here, we describe a genome-wide association study (GWAS) to identify novel genic regions involved in the determination of the shade of bay. In total, 126 horses from five different breeds were r...
Mobility and Invasion Related Gene Expression Patterns in Equine Sarcoid.
Animals : an open access journal from MDPI    May 19, 2020   Volume 10, Issue 5 880 doi: 10.3390/ani10050880
Podstawski P, Witarski W, Szmatoła T, Bugno-Poniewierska M, Ropka-Molik K.Sarcoids are the most common skin neoplasm in the Equidae family. Sarcoids are benign, but may cause severe damage in affected animals. Due to the high risk of post-treatment recurrence and the lack of an effective method of treatment, it is reasonable to perform studies on the molecular aspects of this neoplasm. Therefore, the present studies analyzed five genes (cell cycle control binding protein alpha, coronin 1b, metalloproteinase 2, tissue inhibitor of metalloproteinases 3 and vimentin) related to cell mobility and invasion traits. Primary healthy fibroblasts and sarcoid cells were obtain...
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