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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.
Thoroughbred Horse Single Nucleotide Polymorphism and Expression Database: HSDB.
Asian-Australasian journal of animal sciences    September 3, 2014   Volume 27, Issue 9 1236-1243 doi: 10.5713/ajas.2013.13694
Lee JH, Lee T, Lee HK, Cho BW, Shin DH, Do KT, Sung S, Kwak W, Kim HJ, Kim H, Cho S, Park KD.Genetics is important for breeding and selection of horses but there is a lack of well-established horse-related browsers or databases. In order to better understand horses, more variants and other integrated information are needed. Thus, we construct a horse genomic variants database including expression and other information. Horse Single Nucleotide Polymorphism and Expression Database (HSDB) (http://snugenome2.snu.ac.kr/HSDB) provides the number of unexplored genomic variants still remaining to be identified in the horse genome including rare variants by using population genome sequences of...
Hematopoiesis in the equine fetal liver suggests immune preparedness.
Immunogenetics    September 2, 2014   Volume 66, Issue 11 635-649 doi: 10.1007/s00251-014-0799-9
Battista JM, Tallmadge RL, Stokol T, Felippe MJ.We investigated how the equine fetus prepares its pre-immune humoral repertoire for an imminent exposure to pathogens in the neonatal period, particularly how the primary hematopoietic organs are equipped to support B cell hematopoiesis and immunoglobulin (Ig) diversity. We demonstrated that the liver and the bone marrow at approximately 100 days of gestation (DG) are active sites of hematopoiesis based on the expression of signature messenger RNA (mRNA) (c-KIT, CD34, IL7R, CXCL12, IRF8, PU.1, PAX5, NOTCH1, GATA1, CEBPA) and protein markers (CD34, CD19, IgM, CD3, CD4, CD5, CD8, CD11b, CD172A)...
Cell and matrix modulation in prenatal and postnatal equine growth cartilage, zones of Ranvier and articular cartilage.
Journal of anatomy    September 1, 2014   Volume 225, Issue 5 548-568 doi: 10.1111/joa.12232
Löfgren M, Ekman S, Svala E, Lindahl A, Ley C, Skiöldebrand E.Formation of synovial joints includes phenotypic changes of the chondrocytes and the organisation of their extracellular matrix is regulated by different factors and signalling pathways. Increased knowledge of the normal processes involved in joint development may be used to identify similar regulatory mechanisms during pathological conditions in the joint. Samples of the distal radius were collected from prenatal and postnatal equine growth plates, zones of Ranvier and articular cartilage with the aim of identifying Notch signalling components and cells with stem cell-like characteristics and...
Population genetic structure of Gasterophilus pecorum in the Kalamaili Nature Reserve, Xinjiang, based on mitochondrial cytochrome oxidase (COI) gene sequence.
Medical and veterinary entomology    August 30, 2014   Volume 28 Suppl 1 75-82 doi: 10.1111/mve.12073
Wang W, Zhang D, Hu D, Chu H, Cao J, Ente M, Jiang G, Li K.Gasterophilosis is a significant threat to equids in the desert steppe of Xinjiang, China, where Gasterophilus pecorum (Fabricius) (Diptera: Gasterophilidae) is the dominant botfly species. A population analysis was conducted on 195 individual G. pecorum larvae from three host species, Przewalski's horse, the domestic horse and the Asiatic wild ass. The distribution of haplotypes of the maternally inherited mitochondrial cytochrome oxidase subunit I (COI) gene was analysed to assess the population differentiation of G. pecorum. High haplotype diversity was observed among G. pecorum popul...
Male horse meiosis: metaphase I chromosome configuration and chiasmata distribution.
Cytogenetic and genome research    August 29, 2014   Volume 143, Issue 4 225-231 doi: 10.1159/000365910
Al-Jaru A, Goodwin W, Skidmore J, Raudsepp T, Khazanehdari K.Chromosome configurations and chiasma frequency during the metaphase I stage of spermatogenesis in the male horse are characterized in this work. The genome-wide frequency and distribution of chiasmata was detected as 49.45 ± 2.07 for 14 fertile stallions. All X and Y chromosomes shared a single chiasma at their pseudoautosomal region, while 1-4 chiasmata were observed in autosomal chromosomes. The chiasma frequency and distribution were further studied for 8 different bivalents identified by FISH in 5 fertile stallions. Genetic length was calculated from chiasmata data for the whole genome a...
Effects of milk proteins on sperm binding to the zona pellucida and intracellular Ca(2+) concentration in stallion sperm.
Animal reproduction science    August 29, 2014   Volume 150, Issue 1-2 24-29 doi: 10.1016/j.anireprosci.2014.08.010
Coutinho da Silva MA, Seidel GE, Squires EL, Graham JK, Carnevale EM.Objectives were to determine the effects of extracellular Ca(2+) and milk proteins on intracellular Ca(2+) concentrations in stallion sperm; and to determine the effects of single caseins on sperm binding to the zona pellucida (ZP). In Experiment I, sperm were incubated in media containing 2 or 4mM Ca(2+) and intracellular Ca(2+) concentration was determined after ionomycin treatment and long-term incubation (3h). Extracellular Ca(2+) concentrations (2 compared with 4mM) did not affect baseline intracellular Ca(2+) concentration of sperm. However, incubating sperm in a medium containing 4 comp...
Deep amplicon sequencing of preselected isolates of Parascaris equorum in β-tubulin codons associated with benzimidazole resistance in other nematodes.
Parasites & vectors    August 29, 2014   Volume 7 410 doi: 10.1186/1756-3305-7-410
Tydén E, Dahlberg J, Karlberg O, Höglund J.The development of anthelmintic resistance (AR) to macrocyclic lactones in the equine roundworm Parascaris equorum has resulted in benzimidazoles now being the most widely used substance to control Parascaris infections. However, over-reliance on one drug class is a risk factor for the development of AR. Consequently, benzimidazole resistance is widespread in several veterinary parasites, where it is associated with single nucleotide polymorphisms (SNPs) in drug targets encoded by the β-tubulin genes. The importance of these SNPs varies between different parasitic nematodes, but it has been h...
Expression of putative markers of pluripotency in equine embryonic and adult tissues.
Veterinary journal (London, England : 1997)    August 29, 2014   Volume 202, Issue 3 533-535 doi: 10.1016/j.tvjl.2014.08.026
Esteves CL, Sharma R, Dawson L, Taylor SE, Pearson G, Keen JA, McDonald K, Aurich C, Donadeu FX.Expression of several putative markers of pluripotency (OCT4, SOX2, NANOG, LIN28A, REX1, DNMT3B and TERT) was examined in a range of equine tissues, including early embryos, induced pluripotent stem cells (iPSCs), testis, adipose- and bone marrow-derived mesenchymal stromal cells (MSCs), and keratinocytes. Transcript levels of all markers were highest in embryos and iPSCs and, except for SOX2, were very low or undetectable in keratinocytes. Mean expression levels of all markers were lower in testis than in embryos or iPSCs and, except for DNMT3B, were higher in testis than in MSCs. Expression ...
Determining ACTB, ATP5B and RPL32 as optimal reference genes for quantitative RT-PCR studies of cryopreserved stallion semen.
Animal reproduction science    August 28, 2014   Volume 149, Issue 3-4 204-211 doi: 10.1016/j.anireprosci.2014.08.007
Equine germplasm bank management involves not only the conservation and use of semen doses, in addition it can also be a resource to study stallion semen quality and after thawing semen properties for reproductive purposes. A possible criterion to measure quality may be based on differential gene expression of loci involved during spermatogenesis and sperm quality maturation. The rapid degradation of sperm after thawing affects the integrity and availability of RNA. In this study we have analyzed genes expressed in equine cryopreserved sperm, which provided an adequate amplification, specifici...
Antiviral potency and functional analysis of tetherin orthologues encoded by horse and donkey.
Virology journal    August 27, 2014   Volume 11 151 doi: 10.1186/1743-422X-11-151
Yin X, Guo M, Gu Q, Wu X, Wei P, Wang X.Tetherin is an interferon-inducible host cell factor that blocks the viral particle release of the enveloped viruses. Most knowledge regarding the interaction between tetherin and viruses has been obtained using the primate lentiviral system. However, much less is known about the functional roles of tetherin on other lentiviruses. Equine infectious anemia virus (EIAV) is an important macrophage-tropic lentivirus that has been widely used as a practical model for investigating the evolution of the host-virus relationship. The host range of EIAV is reported to include all members of the Equidae ...
Haplotype diversity in the equine myostatin gene with focus on variants associated with race distance propensity and muscle fiber type proportions.
Animal genetics    August 26, 2014   Volume 45, Issue 6 827-835 doi: 10.1111/age.12205
Petersen JL, Valberg SJ, Mickelson JR, McCue ME.Two variants in the equine myostatin gene (MSTN), including a T/C SNP in the first intron and a 227-bp SINE insertion in the promoter, are associated with muscle fiber type proportions in the Quarter Horse (QH) and with the prediction of race distance propensity in the Thoroughbred (TB). Genotypes from these loci, along with 18 additional variants surrounding MSTN, were examined in 301 horses of 14 breeds to evaluate haplotype relationships and diversity. The C allele of intron 1 was found in 12 of 14 breeds at a frequency of 0.27; the SINE was observed in five breeds, but common in only the T...
Clinical follow-up of horses treated with allogeneic equine mesenchymal stem cells derived from umbilical cord blood for different tendon and ligament disorders.
The veterinary quarterly    August 26, 2014   Volume 34, Issue 2 92-97 doi: 10.1080/01652176.2014.949390
Mesenchymal stem cells (MSCs) offer promise as therapeutic aids in the repair of tendon and ligament disorders in sport horses. Equine allogeneic MSCs derived from umbilical cord blood (eUCB-MSCs) can be obtained in a minimally invasive fashion with successful propagation of MSCs. Objective: The objective of this study was to determine the applicability and therapeutic effect of eUCB-MSCs on tendinitis of the superficial digital flexor tendon, desmitis of the suspensory ligament, tendinitis of the deep digital flexor tendon, and desmitis of the inferior check ligament in clinical cases. Method...
A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys.
Animal genetics    August 25, 2014   Volume 45, Issue 6 878-880 doi: 10.1111/age.12207
Abitbol M, Legrand R, Tiret L.The seven donkey breeds recognised by the French studbook are characterised by few coat colours: black, bay and grey. Normand bay donkeys seldom give birth to red foals, a colour more commonly seen and recognised in American miniature donkeys. Red resembles the equine chestnut colour, previously attributed to a mutation in the melanocortin 1 receptor gene (MC1R). We used a panel of 124 donkeys to identify a recessive missense c.629T>C variant in MC1R that showed a perfect association with the red coat colour. This variant leads to a methionine to threonine substitution at position 210 in th...
Comparative analysis of LTR and structural genes in an equine infectious anemia virus strain isolated from a feral horse in Japan.
Archives of virology    August 23, 2014   Volume 159, Issue 12 3413-3420 doi: 10.1007/s00705-014-2206-0
Dong J, Cook FR, Haga T, Horii Y, Norimine J, Misawa N, Goto Y, Zhu W.Although equine infectious anemia virus (EIAV) poses a major threat to the equine industry worldwide, the molecular epidemiology of this virus is poorly understood. Recently, an EIAV strain (EIAVMiyazaki2011-A) representing a new monophyletic group was discovered in feral horses in southern Japan. In the present study, the EIAVMiyazaki2011-A proviral genome is compared with evolutionarily divergent EIAV isolates to investigate conservation of functional elements or motifs within the long terminal repeats (LTRs) and structural genes. This analysis represents a significant step forward in increa...
Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes.
PloS one    August 22, 2014   Volume 9, Issue 8 e105971 doi: 10.1371/journal.pone.0105971
Fernandez-Fuente M, Terracciano CM, Martin-Duque P, Brown SC, Vassaux G, Piercy RJ.Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant hyperthermia, central core disease, multiminicore disease and certain centronuclear myopathies. In addition, aberrant skeletal muscle calcium handling is believed to play a pivotal role in the highly prevalent disorder of Thoroughbred racehorses, known as Recurrent Exertional Rhabdomyolysis. Traditionally, such defects were studied in human an...
Systemic mycobacteriosis in an aborted thoroughbred fetus in Japan.
The Journal of veterinary medical science    August 21, 2014   Volume 76, Issue 12 1617-1621 doi: 10.1292/jvms.14-0276
Sano Y, Matsuda K, Osaki K, Miyasho T, Tsuda T, Taniyama H.A male Thoroughbred fetus was aborted on day 251 of pregnancy. Gross and histological examinations detected systemic granulomatous lesions in many superficial and visceral lymph nodes and organs including the liver, tonsils, lungs, thymus, spleen, right thyroid gland and gastrointestinal tract, and suppurative placentitis, pyogranulomatous amnionitis and intralesional acid-fast bacilli were also detected. An examination of the DNA base sequence of the β subunit of RNA polymerase demonstrated that Mycobacterium avium strain 104 had infected several organs. To the best of our knowledge, this is...
Comparison of the Effect of Heterologous and Homologous Seminal Plasma on Motility and Chromatin Integrity of Stallion Spermatozoa Selected by Single Layer Centrifugation.
Journal of veterinary medicine    August 20, 2014   Volume 2014 325451 doi: 10.1155/2014/325451
Morrell JM, Johannisson A.The effect on sperm motility and chromatin integrity of adding homologous or heterologous equine seminal plasma (SP) to fresh stallion spermatozoa selected by single layer centrifugation (SLC) was studied. No statistical difference in mean progressive motility was seen after adding SP at time 0 h, although there were differences for individual stallions. The proportion of spermatozoa with high velocity was increased compared to untreated SLC-selected spermatozoa (P < 0.05), with significant differences between individuals (P < 0.01). When the SLC samples were stored for 24 h before a...
Stallion fertility: a focus on the spermatozoon.
Equine veterinary journal    August 18, 2014   Volume 47, Issue 1 16-24 doi: 10.1111/evj.12308
Varner DD, Gibb Z, Aitken RJ.Stallion fertility is a vast subject, with a wide array of permutations that can impact reproductive performance in either positive or negative ways. This review is intended to address a mere segment of the male fertility issue, but the very essence of the male contribution to fertilisation, that of the spermatozoon. Spermatozoal ultrastructure and form-to-function are detailed and spermatozoal metabolism is discussed, with specific reference to distinctive characteristics of stallion spermatozoa. Lastly, methods for assessment of spermatozoal function are considered, with emphasis on spermato...
Equine infectious anemia virus in Japan: viral isolates V70 and V26 are of North American not Japanese origin.
Veterinary microbiology    August 15, 2014   Volume 174, Issue 1-2 276-278 doi: 10.1016/j.vetmic.2014.08.004
Dong J, Cook FR, Zhu W.No abstract available
Epitope shifting of gp90-specific cellular immune responses in EIAV-infected ponies.
Veterinary immunology and immunopathology    August 10, 2014   Volume 161, Issue 3-4 161-169 doi: 10.1016/j.vetimm.2014.08.001
Liu C, Cook SJ, Craigo JK, Cook FR, Issel CJ, Montelaro RC, Horohov DW.Unlike other lentiviruses, EIAV replication can be controlled in most infected horses leading to an inapparent carrier state free of overt clinical signs which lasts for many years. While the resolution of the initial infection is correlated with the appearance of virus specific cellular immune responses, the precise immune mechanisms responsible for control of the infection are not yet identified. Since the virus undergoes rapid mutation following infection, the immune response must also adapt to meet this challenge. We hypothesize that this adaptation involves peptide-specific recognition sh...
Infection of equine monocyte-derived macrophages with an attenuated equine infectious anemia virus (EIAV) strain induces a strong resistance to the infection by a virulent EIAV strain.
Veterinary research    August 9, 2014   Volume 45, Issue 1 82 doi: 10.1186/s13567-014-0082-y
Ma J, Wang SS, Lin YZ, Liu HF, Liu Q, Wei HM, Wang XF, Wang YH, Du C, Kong XG, Zhou JH, Wang X.The Chinese attenuated equine infectious anemia virus (EIAV) vaccine has successfully protected millions of equine animals from EIA disease in China. Given that the induction of immune protection results from the interactions between viruses and hosts, a better understanding of the characteristics of vaccine strain infection and host responses would be useful for elucidating the mechanism of the induction of immune protection by the Chinese attenuated EIAV strain. In this study, we demonstrate in equine monocyte-derived macrophages (eMDM) that EIAVFDDV13, a Chinese attenuated EIAV strain, indu...
Science-in-brief: Equine laminitis research: milestones and goals.
Equine veterinary journal    August 8, 2014   Volume 46, Issue 5 529-533 doi: 10.1111/evj.12301
Orsini JA.No abstract available
Equine induced pluripotent stem cells or how to turn skin cells into neurons: horse tissues a la carte?
Equine veterinary journal    August 8, 2014   Volume 46, Issue 5 534-537 doi: 10.1111/evj.12300
Donadeu FX.No abstract available
Breeding for speed.
Science (New York, N.Y.)    August 7, 2014   Volume 345, Issue 6197 632 doi: 10.1126/science.345.6197.632-a
Roberts RM.No abstract available
The DMRT3 ‘Gait keeper’ mutation affects performance of Nordic and Standardbred trotters.
Journal of animal science    August 1, 2014   Volume 92, Issue 10 4279-4286 doi: 10.2527/jas.2014-7803
Jäderkvist K, Andersson LS, Johansson AM, Árnason T, Mikko S, Eriksson S, Andersson L, Lindgren G.In a previous study it was shown that a nonsense mutation in the DMRT3 gene alters the pattern of locomotion in horses and that this mutation has a strong positive impact on trotting performance of Standardbreds. One aim of this study was to test if racing performance and trotting technique in the Nordic (Coldblood) trotters are also influenced by the DMRT3 genotype. Another aim was to further investigate the effect of the mutation on performance in Standardbreds, by using a within-family analysis and genotype-phenotype correlations in a larger horse material than in the previous study. We gen...
Genetic parameters for earnings in Quarter Horse.
Genetics and molecular research : GMR    August 1, 2014   Volume 13, Issue 3 5840-5848 doi: 10.4238/2014.August.1.2
Silva AP, Curi RA, Langlois B, Silva JA.In this study, we estimated the heritability (h(2)) of earnings in the Quarter Horse in order to evaluate the inclusion of this trait in breeding programs. Records from 14,754 races of 2443 horses from 1978-2009 were provided by Sorocaba Hippodrome, São Paulo, Brazil. All ancestors of the registered horses were included in the pedigree file until the 4th generation. Log-transformed performance measures (LPM) were analyzed for animals aged 2, 3, and 4 years and during their entire career. The h(2) estimates were obtained using a multi-trait model and Gibbs sampling that included the effects of...
Gene expression of matrix metalloproteinases and LH receptors in mare follicular development.
Theriogenology    August 1, 2014   Volume 82, Issue 8 1131-1136 doi: 10.1016/j.theriogenology.2014.07.033
Bastos HB, Kretzmann NA, Santos GO, Esmeraldino AT, Rechsteiner SF, Mattos RC, Neves AP.The period from the emergence of a dominant follicle until its formation requires tissue remodeling. Enzymes promoting collagen lysis, such as matrix metalloproteinases (MMPs), are fundamental for the process of extracellular matrix remodeling, which allows changes in ovarian tissue architecture during follicular growth. It has been suggested that the production of these enzymes may be affected by the rise in circulating concentrations of LH, which acts on the ovarian surface epithelium (OSE). The aim of this study was to determine the expression of MMP-1, MMP-2, and LH receptor (LHR) in the o...
Comparison of the bacterial community structure within the equine hindgut and faeces using Automated Ribosomal Intergenic Spacer Analysis (ARISA).
Animal : an international journal of animal bioscience    July 30, 2014   Volume 8, Issue 12 1928-1934 doi: 10.1017/S1751731114001943
Sadet-Bourgeteau S, Philippeau C, Dequiedt S, Julliand V.The horse's hindgut bacterial ecosystem has often been studied using faecal samples. However few studies compared both bacterial ecosystems and the validity of using faecal samples may be questionable. Hence, the present study aimed to compare the structure of the equine bacterial community in the hindgut (caecum, right ventral colon) and faeces using a fingerprint technique known as Automated Ribosomal Intergenic Spacer Analysis (ARISA). Two DNA extraction methods were also assessed. Intestinal contents and faeces were sampled 3 h after the morning meal on four adult fistulated horses fed mea...
The effect of the ‘Gait keeper’ mutation in the DMRT3 gene on gaiting ability in Icelandic horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    July 30, 2014   Volume 131, Issue 6 415-425 doi: 10.1111/jbg.12112
Kristjansson T, Bjornsdottir S, Sigurdsson A, Andersson LS, Lindgren G, Helyar SJ, Klonowski AM, Arnason T.A nonsense mutation in DMRT3 ('Gait keeper' mutation) has a predominant effect on gaiting ability in horses, being permissive for the ability to perform lateral gaits and having a favourable effect on speed capacity in trot. The DMRT3 mutant allele (A) has been found in high frequency in gaited breeds and breeds bred for harness racing, while other horse breeds were homozygous for the wild-type allele (C). The aim of this study was to evaluate further the effect of the DMRT3 nonsense mutation on the gait quality and speed capacity in the multigaited Icelandic horse and demonstrate how the freq...
Evaluation of the length of competitive life in Hungarian sport horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    July 30, 2014   Volume 131, Issue 6 529-535 doi: 10.1111/jbg.12108
Posta J, Rudiné Mezei A, Mihók S, Mészáros G.The aim of this study was to analyse the duration of the competitive life of jumping horses in Hungary to assess the potential for genetic evaluation and to get information about the risk factors affecting jumping performance of sport horses. The data set included lifetime performance in jumping competitions for 8475 horses born from 1992 onwards with records between 1996 and 2011 (32.7% were right-censored). Longevity was measured as the number of years spent in the competition. Discrete time survival model included fixed effects of gender, age at first competition, and the time-dependent eff...