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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Effects of cryopreservation on stallion sperm protamine messenger RNAs.
Reproduction in domestic animals = Zuchthygiene    January 13, 2020   Volume 55, Issue 3 274-282 doi: 10.1111/rda.13615
Kadivar A, Shams Esfandabadi N, Dehghani Nazhvani E, Shirazi A, Ahmadi E.Protamines substitute DNA-binding histones during late spermatogenesis in sperm nucleus. Stallion sperm contains all three variants of these arginine-rich and positively charged nuclear proteins (P1, P2 and P3). Two variants of protamine-2, that is P2 and P3, constitute approximately 15% of the entire protamine content. Also, the ratio of protamine-1 to protamine-2 varies among different mammalian species, and abnormal protamine ratios and protamine content are correlated with male infertility. In this study, changes in protamine mRNA abundance for all three protamines were investigated in sta...
Identification of Novel lncRNAs Differentially Expressed in Placentas of Chinese Ningqiang Pony and Yili Horse Breeds.
Animals : an open access journal from MDPI    January 11, 2020   Volume 10, Issue 1 119 doi: 10.3390/ani10010119
Pu Y, Zhang Y, Zhang T, Han J, Ma Y, Liu X.As a nutrient sensor, the placenta plays a key role in regulating fetus growth and development. Long non-coding RNAs (lncRNAs) have been shown to regulate growth-related traits. However, the biological function of lncRNAs in horse placentas remains unclear. To compare the expression patterns of lncRNAs in the placentas of the Chinese Ningqiang (NQ) and Yili (YL) breeds, we performed a transcriptome analysis using RNA sequencing (RNA-seq) technology. NQ is a pony breed with an average adult height at the withers of less than 106 cm, whereas that of YL is around 148 cm. Based on 813 million high...
Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome.
Genes    January 10, 2020   Volume 11, Issue 1 78 doi: 10.3390/genes11010078
Villagomez DAF, Welsford EG, King WA, Revay T.In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinica...
Whole-genome sequence analysis reveals candidate genomic footprints and genes associated with reproductive traits in Thoroughbred horse.
Reproduction in domestic animals = Zuchthygiene    January 10, 2020   Volume 55, Issue 2 200-208 doi: 10.1111/rda.13608
Asadollahpour Nanaei H, Ayatollahi Mehrgardi A, Esmailizadeh A.The primary objective of most horse breeding operations was to maximize reproductive efficiency and minimize the cost of producing live foals. Here, we compared individual horses from the Thoroughbred population (n = 17), known as a horse breed with poor reproductive performance, with other six horse populations (n = 28), to detect genomic signatures of positive selection underlying of reproductive traits. A number of protein-coding genes with significant (p-value <.01) higher F values (616 genes) and a lower value for nucleotide diversity (π) (310 genes) were identified. The results of o...
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models.
Genes    January 10, 2020   Volume 11, Issue 1 doi: 10.3390/genes11010082
Hales EN, Esparza C, Peng S, Dahlgren AR, Peterson JM, Miller AD, Finno CJ.Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient horses. A genome-wide association study (GWAS) was carried out using 670,000 SNP markers in 27 case and 42 control Quarter Horses. Two markers, encompassing a 2.5 Mb region on ECA7, were associated with the phenotype (p = 2.05 × 10-7 and 4.72 × 10-6). Within this region, caytaxin (ATCAY) was identified as a candidate gene due to its known role ...
A Comparison of Traditional and Geometric Morphometric Techniques for the Study of Basicranial Morphology in Horses: A Case Study of the Araucanian Horse from Colombia.
Animals : an open access journal from MDPI    January 10, 2020   Volume 10, Issue 1 118 doi: 10.3390/ani10010118
Parés-Casanova PM, Salamanca-Carreño A, Crosby-Granados RA, Bentez-Molano J.Skull size and shape have been widely used to study domestic animal populations and breeds. Although several techniques have been proposed to quantify cranial form, few attempts have been made to compare the results obtained by different techniques. While linear morphometrics has traditionally been used in breed characterization, recent advances in geometric morphometrics have created new techniques for specifically quantifying shape and size. The objective of this study was to compare two morphometric methods for their ability to describe external morphology. For this purpose, 20 skull specim...
Prevalence and multilocus analysis of Giardia duodenalis in racehorses in China.
Parasitology research    January 9, 2020   Volume 119, Issue 2 483-490 doi: 10.1007/s00436-019-06594-2
Qi M, Ji X, Zhang Y, Wei Z, Jing B, Zhang L, Lin X, Karim MR, Wang H, Sun M.Giardia duodenalis is a zoonotic intestinal parasite infecting humans and mammals worldwide. In this study, we evaluated the prevalence of G. duodenalis in racehorses in China and genetically characterized it. In total, 621 fecal samples were collected from racehorses at 17 equestrian clubs in 15 cities in China. Forty-eight (7.7%) animals from 11 equestrian clubs were positive for G. duodenalis of assemblages A (n = 10), B (n = 36), and E (n = 2), based on the small subunit ribosomal RNA (SSU rRNA) gene. Statistically significant differences in the prevalence of this parasite were...
Identification and Characterization of the First Equine Parainfluenza Virus 5.
Virologica Sinica    January 8, 2020   Volume 35, Issue 2 245-247 doi: 10.1007/s12250-019-00185-2
Xie J, Tong P, Zhang A, Zhang L, Song X, Kuang L.No abstract available
Transcriptomic Analysis of Testicular Gene Expression in Normal and Cryptorchid Horses.
Animals : an open access journal from MDPI    January 8, 2020   Volume 10, Issue 1 doi: 10.3390/ani10010102
Han H, Dong H, Chen Q, Gao Y, Li J, Li W, Dang R, Lei C.Testes produce sperm, and investigations into gene expression in the testes will enhance the understanding of the roles of testicular genes in male reproduction. Cryptorchidism, the failure of one or both testes to descend into the scrotal sac, is a common congenital malformation in horses. The major clinical consequence of this abnormality is impaired fertility. The aim of this study was to analyze the expression patterns of testicular genes and to identify the differentially expressed genes (DEGs) in testes between cryptorchid and normal horses. In this study, the gene expression patterns in...
A novel simple genotyping assay for detection of the ‘Gait keeper’ mutation in DMRT3 and allele frequencies in Azteca and Costa Rican Saddle Horse breeds.
Molecular and cellular probes    January 7, 2020   Volume 50 101506 doi: 10.1016/j.mcp.2019.101506
Ayala-Valdovinos MA, Galindo-García J, Sánchez-Chiprés D, Duifhuis-Rivera T, Anguiano-Estrella R.The 'Gait keeper' mutation in the DMRT3 gene alters locomotion and gait patterns in horses. This mutation (C>A) has been found in all gaited breeds of horses analyzed but is absent in most non-gaited breeds. We developed a new mutagenically separated polymerase chain reaction (MS-PCR) based method for simple detection of horse DMRT3 genotype. Our method was applied in a preliminary study to determine DMRT3 allele frequencies in 78 Azteca horses (AZ) and 53 Costa Rican Saddle Horses (CRSH). We found a wild-type C allele frequency of 100% in the AZ horses. For the CRSH, the wild-type C freque...
Prevalence and morphological and molecular characteristics of Sarcocystis bertrami in horses in China.
Parasite (Paris, France)    January 7, 2020   Volume 27 1 doi: 10.1051/parasite/2019078
Ma CL, Ye YL, Wen T, Huang ZM, Pan J, Hu JJ, Tao JP, Song JL.Three cyst-forming Sarcocystis species have been identified in horsemeat; however, there exists considerable confusion concerning their relationships. Here, 74% (34/46) of the examined tissue samples from horses contained sarcocysts based on examination by light microscopy (LM), and the organism was identified as Sarcocystis bertrami based on cyst structure. The S. bertrami cysts were microscopic (up to 6750 μm in length) and exhibited a striated wall with 2.0-5.1 μm villar protrusions (vps) under LM. Transmission electron microscopy (TEM) observations showed that the vps were tightly pack...
Chronic progressive lymphoedema in Friesian horses: suggestive phenotype of affected horses and genome-wide association study.
Veterinary dermatology    January 6, 2020   Volume 31, Issue 3 234-e51 doi: 10.1111/vde.12831
Affolter VK, Dalley B, Kass PH, Brown EA, Sonder C, Bannasch DL.Chronic progressive lymphoedema (CPL) is a disabling condition affecting various draft horse breeds, including Friesian horses. Objective: The high incidence of CPL in Friesian horses suggests a genetic component and a predisposing phenotype. Methods: For the genomic study, 26 affected and 19 control horses were evaluated. Body measurements were taken from 28 affected and nine control Friesian horses. Methods: Axiom® Equine Genotyping Array with a total of 307,474 single nucleotide polymorphism (SNPs) was used for the case/control genome-wide association study (GWAS). Height, weight and leg m...
Description of the D4/D4 genotype in Miniature horses with dwarfism. Andrade DGA, Basso RM, Castiglioni MCR, Silva JP, Machado VMV, Laufer-Amorim R, Borges AS, Oliveira-Filho JP.Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine () gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in t...
Influence of age and ovarian antral follicle count on the reproductive characteristics of embryo donor mares.
The Veterinary record    January 2, 2020   Volume 186, Issue 17 564 doi: 10.1136/vr.105526
Goncalves GR, Morotti F, Colombo AHB, Bonato DV, Bizarro-Silva C, Rosa CO, Cavalieri FLB, Seneda MM.Age and antral follicle count (AFC) are related to fertility in cattle, but this information remains limited in mares. Methods: To verify the influence of age and AFC on the reproductive characteristics of mares, 15 Quarter Horse donors, with 5-15 antral follicles, ranging from three to 17 years old, healthy and in good nutritional status, were divided into groups with low AFC (≤9 follicles) or high AFC (≥10 follicles) and mares considered young (≤9 years) or old (≥10 years). Mares were submitted to ultrasonography to determine the dominant follicle diameter, follicular growth rate, de...
First report of the isolation and phylogenetic characterization of equine Setaria digitata from India based on mitochondrial COI, 12S rDNA, and nuclear ITS2 sequence data.
Parasitology research    January 2, 2020   Volume 119, Issue 2 473-481 doi: 10.1007/s00436-019-06587-1
Maharana BR, Potliya S, Ganguly A, Bisla RS, Mishra C, Ganguly I.Equine ocular setariasis arising mainly from ectopic infestation of Setaria digitata is a common vision impairing ophthalmic disease in India, and the identification of this filarial nematode is based solely on morphology. However, morphological characters alone are inadequate to detect and differentiate S. digitata from its congeners. The present communication reports the first phylogenetic characterization of equine S. digitata from India based on sequences derived from the mitochondrial cytochrome c oxidase subunit 1 (COI), the mitochondrial small subunit ribosomal DNA (12S rDNA), and the n...
Ten years of Taylorella equigenitalis ring trial results comparing culture and polymerase chain reaction.
Revue scientifique et technique (International Office of Epizootics)    January 1, 2020   Volume 39, Issue 3 717-724 doi: 10.20506/rst.39.3.3173
Mawhinney I.Taylorella equigenitalis, the cause of contagious equine metritis (CEM), can be detected by culture but in recent years polymerase chain reaction (PCR) has also been used. In 2008, the World Organisation for Animal Health (OIE) Reference Laboratory for CEM in the United Kingdom set up a ring trial for laboratories to assess their ability to identify T. equigenitalis in laboratory-prepared samples because the identification of T. equigenitalis in the laboratory was recognised to be difficult. Freeze-dried culture suspensions in various combinations of any of T. equigenitalis, Taylorella asinige...
Equine recombination map updated to EquCab3.0.
Animal genetics    December 30, 2019   Volume 51, Issue 2 341-342 doi: 10.1111/age.12898
Beeson SK, Mickelson JR, McCue ME.No abstract available
Analysis of Theileria equi diversity in The Gambia using a novel genotyping method.
Transboundary and emerging diseases    December 29, 2019   Volume 67, Issue 3 1213-1221 doi: 10.1111/tbed.13454
Coultous RM, McDonald M, Raftery AG, Shiels BR, Sutton DGM, Weir W.Theileria equi, one of the primary pathogens causing equine piroplasmosis, has previously been sub-classified into a number of clades on the basis of 18S SSU rRNA gene sequence diversity. This partitioning of the parasite population has potential implications for host immunity, treatment and vaccine development. To detect and identify different clade genotypes among and within individual equine blood samples, a novel PCR-based technique was designed and optimized. Theileria equi has only recently been described in The Gambia, and the developed genotyping technique was used to analyse blood sam...
The First Report of Genetic and Structural Diversities in the SPRN Gene in the Horse, an Animal Resistant to Prion Disease.
Genes    December 28, 2019   Volume 11, Issue 1 39 doi: 10.3390/genes11010039
Won SY, Kim YC, Kim SK, Jeong BH.Prion diseases are fatal neurodegenerative diseases and are characterized by the accumulation of abnormal prion protein (PrP) in the brain. During the outbreak of the bovine spongiform encephalopathy (BSE) epidemic in the United Kingdom, prion diseases in several species were reported; however, horse prion disease has not been reported thus far. In previous studies, the shadow of prion protein (Sho) has contributed to an acceleration of conversion from normal prion protein (PrP) to PrP, and the shadow of prion protein gene () polymorphisms have been significantly associated with the susceptibi...
Insulin Enhances the In Vitro Osteogenic Capacity of Flexor Tendon-Derived Progenitor Cells.
Stem cells international    December 27, 2019   Volume 2019 1602751 doi: 10.1155/2019/1602751
Durgam SS, Altmann NN, Coughlin HE, Rollins A, Hostnik LD.There is increased incidence of tendon disorders and decreased tendon healing capacity in people with diabetes mellitus (DM). Recent studies have also suggested pathological ossification in repair tendon of people with DM. Therefore, the objective of this study is to investigate the effects of insulin supplementation, an important pathophysiologic stimulus of DM, on tendon progenitor cell (TPC) proliferation and in vitro osteogenic capacity. Passage 3 TPCs were isolated from collagenase-digested, equine superficial digital flexor tendons. TPC proliferation was measured via MTT assay after 3 da...
Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties.
Reproduction in domestic animals = Zuchthygiene    December 26, 2019   Volume 55, Issue 2 248-251 doi: 10.1111/rda.13605
Witarski W, Kij B, Nowak A, Bugno-Poniewierska M.A hucul mare with reproductive abnormalities was examined during karyotype analysis. The karyotype was analysed based on evaluation of 860 metaphase plates in chromosome preparations. The use of fluorescence in situ hybridization (FISH) with an X chromosome painting probe showed premature X chromosome separation in 9.5% cases of examined chromosome spreads. In this report, we present the first identify premature centromere division (PCD) as a possible cause of abnormal X chromosome morphology in horses and as a probable cause of reproductive difficulties.
Whole-Genome Signatures of Selection in Sport Horses Revealed Selection Footprints Related to Musculoskeletal System Development Processes.
Animals : an open access journal from MDPI    December 26, 2019   Volume 10, Issue 1 53 doi: 10.3390/ani10010053
Salek Ardestani S, Aminafshar M, Zandi Baghche Maryam MB, Banabazi MH, Sargolzaei M, Miar Y.Selective breeding has led to gradual changes at the genome level of horses. Deciphering selective pressure patterns is progressive to understand how breeding strategies have shaped the sport horse genome; although, little is known about the genomic regions under selective pressures in sport horse breeds. The major goal of this study was to shed light on genomic regions and biological pathways under selective pressures in sport horses. In this study, whole-genome sequences of 16 modern sport and 35 non-sport horses were used to investigate the genomic selective signals of sport performance, by...
Screening and Identification of Novel cGAS Homologues Using a Combination of in Vitro and In Vivo Protein Synthesis.
International journal of molecular sciences    December 22, 2019   Volume 21, Issue 1 105 doi: 10.3390/ijms21010105
Rolf J, Siedentop R, Lütz S, Rosenthal K.The cyclic GMP-AMP synthase (cGAS) catalyzes the synthesis of the multifunctional second messenger, cGAMP, in metazoans. Although numerous cGAS homologues are predicted in protein databases, the catalytic activity towards cGAMP synthesis has been proven for only four of them. Therefore, we selected five novel and yet uncharacterized cGAS homologues, which cover a broad range in the field of vertebrates. Cell-free protein synthesis (CFPS) was used for a pre-screening to investigate if the cGAS genes originating from higher organisms can be efficiently expressed in a bacterial expression system....
The Occurrence and Characterization of Extended-Spectrum-Beta-Lactamase-Producing Escherichia coli Isolated from Clinical Diagnostic Specimens of Equine Origin.
Animals : an open access journal from MDPI    December 21, 2019   Volume 10, Issue 1 28 doi: 10.3390/ani10010028
Elias L, Gillis DC, Gurrola-Rodriguez T, Jeon JH, Lee JH, Kim TY, Lee SH, Murray SA, Ohta N, Scott HM, Wu J, Rogovskyy AS. isolates were recovered from clinical specimens of equine patients admitted to the Texas A&M Veterinary Medical Teaching Hospital over a five-year period. Ceftiofur resistance was used as a marker for potential extended-spectrum beta-lactamase (ESBL)-activity, and of the 48 ceftiofur-resistant isolates, 27.08% ( = 13) were phenotypically ESBL-positive. Conventional PCR analysis followed by the Finder multiplex PCR detected the ESBL genes, CTX-M-1 and SHV, in seven out of the 13 isolates. Moreover, beta-lactamase genes of TEM-1-type, BER-type (AmpC), and OXA-type were also identified. S...
Different expression of Defensin-B gene in the endometrium of mares of different age during the breeding season.
BMC veterinary research    December 21, 2019   Volume 15, Issue 1 465 doi: 10.1186/s12917-019-2215-z
Despite being one of the major causes of infertility in mares, the mechanisms responsible for equine endometrosis are still unclear and controversial. In the last few years, many investigations focused on local immune response modulation. Since it is generally accepted that endometrial fibrosis increases with age, we hypothesize that older mares could show altered local immune modulation, initiating a pro-inflammatory and tissue remodeling cascade of events that could lead to endometrosis. The aim of this study, indeed, is to evaluate and describe the local gene expression of genes involved in...
Brazilian Sport Horse: genetic parameters for approval of Brasileiro de Hipismo stallions.
Tropical animal health and production    December 19, 2019   Volume 52, Issue 4 1669-1680 doi: 10.1007/s11250-019-02168-7
Medeiros BR, Garbade P, Seixas L, Peripolli V, McManus C.The aim of this study was to evaluate genetic parameters for subjective scores given at the Brazilian Sport Horse (BSH) Stallion Approval by estimating heritability (h) for morphological, gait, and jumping traits and genetic correlations (γ) among the functional ones and by verifying selection feasibility. The analysis included 1179 complete evaluations from 294 horses, by 4.26 ± 0.96 judges. Each trait was evaluated using mixed models in SAS® v9.2, considering the individual as a random effect. Variance components and genetic parameters were obtained by single and two-trait animal mode...
Convergent genomic signatures of high-altitude adaptation among domestic mammals.
National science review    December 19, 2019   Volume 7, Issue 6 952-963 doi: 10.1093/nsr/nwz213
Wu DD, Yang CP, Wang MS, Dong KZ, Yan DW, Hao ZQ, Fan SQ, Chu SZ, Shen QS, Jiang LP, Li Y, Zeng L, Liu HQ, Xie HB, Ma YF, Kong XY, Yang SL, Dong XX....Abundant and diverse domestic mammals living on the Tibetan Plateau provide useful materials for investigating adaptive evolution and genetic convergence. Here, we used 327 genomes from horses, sheep, goats, cattle, pigs and dogs living at both high and low altitudes, including 73 genomes generated for this study, to disentangle the genetic mechanisms underlying local adaptation of domestic mammals. Although molecular convergence is comparatively rare at the DNA sequence level, we found convergent signature of positive selection at the gene level, particularly the gene in these Tibetan domest...
Microvesicles isolated from 5-azacytidine-and-resveratrol-treated mesenchymal stem cells for the treatment of suspensory ligament injury in horse-a case report.
Stem cell research & therapy    December 18, 2019   Volume 10, Issue 1 394 doi: 10.1186/s13287-019-1469-5
Kornicka-Garbowska K, Pędziwiatr R, Woźniak P, Kucharczyk K, Marycz K.In athlete horses, suspensory ligament (SL) injuries are the most common cause of lameness. Healing of SL injury is still problematic, and even proper rehabilitation and pharmacological therapy do not guarantee returning to the initial performance level. In our previous studies, we have shown that a combination of 5-azacytidine (AZA) and resveratrol (RES) exerts beneficial, rejuvenating effects on metabolic syndrome derived adipose-derived stem cells (ASCs). Thus, in the presented research, we investigate whether not only rejuvenated ASC but also microvesicles (MVsAZA/RES) secreted by them pos...
Sustained Interleukin-10 Transgene Expression Following Intra-Articular AAV5-IL-10 Administration to Horses.
Human gene therapy    December 18, 2019   Volume 31, Issue 1-2 110-118 doi: 10.1089/hum.2019.195
Moss KL, Jiang Z, Dodson ME, Linardi RL, Haughan J, Gale AL, Grzybowski C, Engiles JE, Stefanovski D, Robinson MA, Ortved KF.Joint trauma leads to post-traumatic inflammation with upregulation of inflammatory cytokines and degradative enzymes. If severe enough, this response can lead to irreversible post-traumatic osteoarthritis. Interleukin-10 (IL-10), a cytokine with potent anti-inflammatory effects, has been shown to have chondroprotective effects. A gene therapy approach using a vector to overexpress IL-10 in the joint represents a feasible method of delivering sustained high doses of IL-10 to post-traumatic joints. We hypothesized that an AAV5 vector overexpressing IL-10 would result in rapid and sustained IL-1...
Physiological development of the equine fetus during late gestation.
Equine veterinary journal    December 17, 2019   Volume 52, Issue 2 165-173 doi: 10.1111/evj.13206
Fowden AL, Giussani DA, Forhead AJ.In many species, the pattern of growth and physiological development in utero has an important role in determining not only neonatal viability but also adult phenotype and disease susceptibility. Changes in fetal development induced by a range of environmental factors including maternal nutrition, disease, placental insufficiency and social stresses have all been shown to induce adult cardiovascular and metabolic dysfunction that often lead to ill health in later life. Compared to other precocious animals, much less is known about the physiological development of the fetal horse or the longer-...
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