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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.
Isolation and genetic characterization of naturally NS-truncated H3N8 equine influenza virus in South Korea.
Epidemiology and infection    June 26, 2013   Volume 142, Issue 4 759-766 doi: 10.1017/S095026881300143X
Na W, Kang B, Kim HI, Hong M, Park SJ, Jeoung HY, An DJ, Moon H, Kim JK, Song D.Equine influenza virus (EIV) causes a highly contagious respiratory disease in equids, with confirmed outbreaks in Europe, America, North Africa, and Asia. Although China, Mongolia, and Japan have reported equine influenza outbreaks, Korea has not. Since 2011, we have conducted a routine surveillance programme to detect EIV at domestic stud farms, and isolated H3N8 EIV from horses showing respiratory disease symptoms. Here, we characterized the genetic and biological properties of this novel Korean H3N8 EIV isolate. This H3N8 EIV isolate belongs to the Florida sublineage clade 1 of the America...
Low levels of naturally occurring regulatory T lymphocytes in blood of mares with early pregnancy loss.
Reproduction, fertility, and development    June 22, 2013   Volume 26, Issue 6 827-833 doi: 10.1071/RD13012
Aurich C, Weber J, Nagel C, Merkl M, Jude R, Wostmann S, Ollech D, Baron U, Olek S, Jansen T.Early pregnancy loss is a major reason for low reproductive efficiency in the horse. In humans and mice, low numbers of regulatory T cells (Treg cells) are linked to miscarriage. The percentage of Treg cells in oestrous mares at the start of the breeding season was evaluated in relation to the outcome of subsequent pregnancy. For identification and quantification of Treg cells, a highly sensitive and specific qPCR assay targeting the Treg-specific demethylated region in the equine forkhead box transcription factor (FOXP3) gene was established. In a total of 108 mares, pregnancy was followed un...
Influence of equine growth hormone, insulin-like growth factor-I and its interaction with gonadotropins on in vitro maturation and cytoskeleton morphology in equine oocytes.
Animal : an international journal of animal bioscience    June 21, 2013   Volume 7, Issue 9 1493-1499 doi: 10.1017/S175173111300116X
Pereira GR, Lorenzo PL, Carneiro GF, Ball BA, Pegoraro LM, Pimentel CA, Liu IK.In horses, successful in vitro fertilization procedures are limited by our inability to consistently mature equine oocytes by in vitro methods. Growth hormone (GH) is an important regulator of female reproduction in mammals, playing an important role in ovarian function, follicular growth and steroidogenesis. The objectives of this research were to investigate: the effects of equine growth hormone (eGH) and insulin-like growth factor-I (IGF-I) on the in vitro maturation (IVM) of equine oocytes, and the effects of eGH in addition to estradiol (E2), gonadotropins (FSH and LH) and fetal calf seru...
Transmission of Streptococcus equi subspecies zooepidemicus infection from horses to humans.
Emerging infectious diseases    June 20, 2013   Volume 19, Issue 7 1041-1048 doi: 10.3201/eid1907.121365
Pelkonen S, Lindahl SB, Suomala P, Karhukorpi J, Vuorinen S, Koivula I, Väisänen T, Pentikäinen J, Autio T, Tuuminen T.Streptococcus equi subspecies zooepidemicus (S. zooepidemicus) is a zoonotic pathogen for persons in contact with horses. In horses, S. zooepidemicus is an opportunistic pathogen, but human infections associated with S. zooepidemicus are often severe. Within 6 months in 2011, 3 unrelated cases of severe, disseminated S. zooepidemicus infection occurred in men working with horses in eastern Finland. To clarify the pathogen's epidemiology, we describe the clinical features of the infection in 3 patients and compare the S. zooepidemicus isolates from the human cases with S. zooepidemicus isolates...
First evidence of autochthonous cases of Leishmania (Leishmania) infantum in horse (Equus caballus) in the Americas and mixed infection of Leishmania infantum and Leishmania (Viannia) braziliensis.
Veterinary parasitology    June 20, 2013   Volume 197, Issue 3-4 665-669 doi: 10.1016/j.vetpar.2013.06.014
Soares IR, Silva SO, Moreira FM, Prado LG, Fantini P, Maranhão Rde P, da Silva Filho JM, Melo MN, Palhares MS.This study reports the first evidence of infection by Leishmania infantum in Equus caballus in Americas and the first mixed infection of L. infantum/Leishmania braziliensis on this mammalian species in the world. The diagnoses was based on presence of parasites in lesions and bone marrow aspirates, their identification by using specific primers for L. infantum and L. braziliensis complexes and also serological methods IFAT and ELISA. The analysis of the PCR products suggested mixed infection in three animals. Further studies involving equine leishmaniasis are carrying out in order to clarify t...
Comparative analysis of 16S RNA nucleotide sequences of Anaplasma phagocytophilum detected in the blood of horses from various parts of Europe.
Journal of medical microbiology    June 20, 2013   Volume 62, Issue Pt 12 1891-1896 doi: 10.1099/jmm.0.058636-0
Dzięgiel B, Adaszek L, Winiarczyk M, García-Bocanegra I, Carbonero A, Dębiak P, Winiarczyk S.The aim of this study was to conduct a comparative analysis of the 16S rRNA gene fragment nucleotide sequences for Anaplasma phagocytophilum strains detected in the blood of horses from various parts of Europe. The study comprised 234 horses that had had contact with ticks. Using PCR, the genetic material of A. phagocytophilum was identified in the blood of 42 animals. The sequences of the 16S RNA gene amplicons that were obtained from our A. phagocytophilum isolates had 100 % similarity with each other and 96.4-100 % similarity with Anaplasma spp. sequences selected from those available i...
Effects of Separate and Concomitant TLR-2 and TLR-4 Activation in Peripheral Blood Mononuclear Cells of Newborn and Adult Horses.
PloS one    June 19, 2013   Volume 8, Issue 6 e66897 doi: 10.1371/journal.pone.0066897
Vendrig JC, Coffeng LE, Fink-Gremmels J.Deficient innate and adaptive immune responses cause newborn mammals to be more susceptible to bacterial infections than adult individuals. Toll-like receptors (TLRs) are known to play a pivotal role in bacterial recognition and subsequent immune responses. Several studies have indicated that activation of certain TLRs, in particular TLR-2, can result in suppression of inflammatory pathology. In this study, we isolated peripheral blood mononuclear cells (PBMCs) from adult and newborn horses to investigate the influence of TLR-2 activation on the inflammatory response mediated by TLR-4. Data we...
Are mesenchymal progenitor cells set to revolutionise management of musculoskeletal injuries in the horse?
Veterinary journal (London, England : 1997)    June 15, 2013   Volume 197, Issue 3 533-534 doi: 10.1016/j.tvjl.2013.05.018
Dyson SJ.No abstract available
[Factors affecting pregnancy rates in the German Thoroughbred Breed].
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    June 15, 2013   Volume 41, Issue 3 147-152 
Ewert M, Böröcz J, Uphaus H, Oldenhof H, Distl O, Sieme H.The aim of this study was to evaluate factors affecting pregnancy rates in the German Thoroughbred Breed with particular emphasis on optimisation of fertility rates for breeding stallions of older ages. Methods: Data from the studbooks of the German Thoroughbred Breeding Association from 1996 to 2009 analysed. This analysis included the records of 319 stallions and 6622 brood mares, resulting in 21,372 pregnancies at the end of the season. Results: Pregnancy rates were significantly affected by the age of the stallion and mare as well as the season (month in the breeding season in which coveri...
Reverse mutation of the virulence-associated S2 gene does not cause an attenuated equine infectious anemia virus strain to revert to pathogenicity.
Virology    June 12, 2013   Volume 443, Issue 2 321-328 doi: 10.1016/j.virol.2013.05.017
Gao X, Jiang CG, Wang XF, Lin YZ, Ma J, Han XE, Zhao LP, Shen RX, Xiang WH, Zhou JH.The contribution of S2 accessory gene of equine infectious anemia virus (EIAV) to the virulence of pathogenic strains was investigated in the present study by reverse mutation of all four consensus S2 mutation sites in an attenuated EIAV proviral strain, FDDV3-8, to the corresponding sequences of a highly pathogenic strain DV117. The S2 reverse-mutated recombinant strain FDDVS2r1-2-3-4 replicated with similar kinetics to FDDV3-8 in cultivated target cells. In contrast to the results of other studies of EIAV with dysfunctional S2, reverse mutation of S2 only transiently and moderately increased...
Evidence of purinergic neurotransmission in isolated, intact horse sweat glands.
Veterinary dermatology    June 10, 2013   Volume 24, Issue 4 398-e86 doi: 10.1111/vde.12042
Bovell DL, Riggs CM, Sidlow G, Troester S, MacLaren W, Yip W, Ko WH.Fluid secretion by sweat glands in response to heat and exercise is underpinned by increases in intracellular calcium. In horses, this is primarily via β2-adrenoceptors, but studies in equine sweat gland cell lines have indicated a possible role for purinergic agonists. Knowledge of equine sweating stimulus-secretion mechanisms in intact glands from healthy animals would allow future comparison to determine whether these mechanisms are affected in equine anhidrosis. Objective: To determine whether purinergic agonists can induce changes in intracellular calcium in intact, freshly isolated equi...
Equine developmental orthopaedic diseases–a genome-wide association study of first phalanx plantar osteochondral fragments in Standardbred trotters.
Animal genetics    June 7, 2013   Volume 44, Issue 6 766-769 doi: 10.1111/age.12064
Lykkjen S, Dolvik NI, McCue ME, Rendahl AK, Mickelson JR, Røed KH.Palmar/plantar osteochondral fragments (POF) in fetlock joints commonly affect and influence the athletic performance of horses. In this study, we used the Equine SNP50 BeadChip® to perform a genome-wide association study of metatarsophalangeal POF in 176 Norwegian Standardbred trotter yearlings. Putative quantitative trait loci (QTL) for medial and/or lateral POF, and medial POF only were identified on ECA1, 2, 7, 9 and 31, whereas for lateral POF, only on ECA7, 11, 27 and X. The moderate number of QTL evidences a complex inheritance and suggests various genes controlling POF development in ...
Worms’ adaptation a critical problem: anthelmintic resistance a problem in ruminants, horses.
Journal of the American Veterinary Medical Association    June 6, 2013   Volume 242, Issue 9 1198-1200 
Cima G.No abstract available
Focal adhesion kinases and calcium/calmodulin-dependent protein kinases regulate protein tyrosine phosphorylation in stallion sperm.
Biology of reproduction    June 6, 2013   Volume 88, Issue 6 138 doi: 10.1095/biolreprod.112.107078
González-Fernández L, Macías-García B, Loux SC, Varner DD, Hinrichs K.Protein tyrosine phosphorylation (PY) is a hallmark of sperm capacitation. In stallion sperm, calcium inhibits PY at pH 7.8). These results show for the first time a role for calcium/calmodulin-dependent kinases in PRKA-dependent sperm PY; a non-PRKA-dependent pathway regulating sperm PY; and the apparent involvement of the FAK family of protein tyrosine kinases downstream in both pathways.
Preliminary genetic analyses of important musculoskeletal conditions of Thoroughbred racehorses in Hong Kong.
Veterinary journal (London, England : 1997)    June 5, 2013   Volume 198, Issue 3 611-615 doi: 10.1016/j.tvjl.2013.05.002
Welsh CE, Lewis TW, Blott SC, Mellor DJ, Lam KH, Stewart BD, Parkin TD.A retrospective cohort study of important musculoskeletal conditions of Thoroughbred racehorses was conducted using health records generated over a 15 year period (n=5062, 1296 sires). The prevalence of each condition in the study population was: fracture, 13%; osteoarthritis, 10%; suspensory ligament injury, 10%; and tendon injury, 19%. Linear and logistic sire and animal regression models were built to describe the binary occurrence of these musculoskeletal conditions, and to evaluate the significance of possible environmental risk factors. The heritability of each condition was estimated us...
Lineages of Streptococcus equi ssp. equi in the Irish equine industry.
Irish veterinary journal    June 4, 2013   Volume 66, Issue 1 10 doi: 10.1186/2046-0481-66-10
Moloney E, Kavanagh KS, Buckley TC, Cooney JC.Streptococcus equi ssp. equi is the causative agent of 'Strangles' in horses. This is a debilitating condition leading to economic loss, yard closures and cancellation of equestrian events. There are multiple genotypes of S. equi ssp. equi which can cause disease, but to date there has been no systematic study of strains which are prevalent in Ireland. This study identified and classified Streptococcus equi ssp. equi strains isolated from within the Irish equine industry. Results: Two hundred veterinary isolates were subjected to SLST (single locus sequence typing) based on an internal sequenc...
A new genomic tool, ultra-frequently cleaving TaqII/sinefungin endonuclease with a combined 2.9-bp recognition site, applied to the construction of horse DNA libraries.
BMC genomics    June 1, 2013   Volume 14 370 doi: 10.1186/1471-2164-14-370
Zylicz-Stachula A, Zolnierkiewicz O, Jasiecki J, Skowron PM.Genomics and metagenomics are currently leading research areas, with DNA sequences accumulating at an exponential rate. Although enormous advances in DNA sequencing technologies are taking place, progress is frequently limited by factors such as genomic contig assembly and generation of representative libraries. A number of DNA fragmentation methods, such as hydrodynamic sharing, sonication or DNase I fragmentation, have various drawbacks, including DNA damage, poor fragmentation control, irreproducibility and non-overlapping DNA segment representation. Improvements in these limited DNA scissi...
Y-chromosome analysis in Retuertas horses.
PloS one    May 31, 2013   Volume 8, Issue 5 e64985 doi: 10.1371/journal.pone.0064985
Brandariz-Fontes C, Leonard JA, Vega-Pla JL, Backström N, Lindgren G, Lippold S, Rico C.Several studies based on a variety of genetic markers have attempted to establish the origins of horse domestication. Thus far a discrepancy between the results of mitochondrial DNA analysis, which show high levels of diversity, and results from the Y-chromosome, with almost no genetic variability, has been identified. Most previous work on the horse Y-chromosome has focused on widespread, popular breeds or local Asian breeds. It is possible that these breeds represent a reduced set of the genetic variation present in the species. Additional genetic variation may be present in local breeds and...
The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.
Cytogenetic and genome research    May 30, 2013   Volume 141, Issue 4 277-283 doi: 10.1159/000351225
Demyda-Peyrás S, Membrillo A, Bugno-Poniewierska M, Pawlina K, Anaya G, Moreno-Millán M.Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We s...
Natural killer cell receptor genes in the family Equidae: not only Ly49.
PloS one    May 28, 2013   Volume 8, Issue 5 e64736 doi: 10.1371/journal.pone.0064736
Futas J, Horin P.Natural killer (NK) cells have important functions in immunity. NK recognition in mammals can be mediated through killer cell immunoglobulin-like receptors (KIR) and/or killer cell lectin-like Ly49 receptors. Genes encoding highly variable NK cell receptors (NKR) represent rapidly evolving genomic regions. No single conservative model of NKR genes was observed in mammals. Single-copy low polymorphic NKR genes present in one mammalian species may expand into highly polymorphic multigene families in other species. In contrast to other non-rodent mammals, multiple Ly49-like genes appear to exist ...
Region-specific expression of aquaporin subtypes in equine testis, epididymis, and ductus deferens.
Anatomical record (Hoboken, N.J. : 2007)    May 27, 2013   Volume 296, Issue 7 1115-1126 doi: 10.1002/ar.22709
Klein C, Troedsson MH, Rutllant J.The process of water movement in the excurrent duct system of the male reproductive tract is pivotal for establishment of male fertility. The objective was to elucidate expression of aquaporin (AQP) water channels in the stallion reproductive tract. Real-time RT-PCR detected expression of AQP0-5 and AQP7-11 in testis, epididymis, and ductus deferens of mature stallions. There were two main expression patterns: (1) higher expression in testis than in epididymis and ductus deferens (AQP0, -4, -5, -8, -10, and -11); and (2) lower expression in testis than in epididymis and ductus deferens (AQP1, ...
Resonance assignments for latherin, a natural surfactant protein from horse sweat.
Biomolecular NMR assignments    May 26, 2013   Volume 8, Issue 1 213-216 doi: 10.1007/s12104-013-9485-3
Vance SJ, McDonald RE, Cooper A, Kennedy MW, Smith BO.Latherin is an intrinsically surfactant protein of ~23 kDa found in the sweat and saliva of horses. Its function is probably to enhance the translocation of sweat water from the skin to the surface of the pelt for evaporative cooling. Its role in saliva may be to enhance the wetting, softening and maceration of the dry, fibrous food for which equines are adapted. Latherin is unusual in its relatively high content of aliphatic amino acids (~25% leucines) that might contribute to its surfactant properties. Latherin is related to the palate, lung, and nasal epithelium carcinoma-associated protein...
Outbreak of upper respiratory disease in horses caused by Streptococcus equi subsp. zooepidemicus ST-24.
Veterinary microbiology    May 25, 2013   Volume 166, Issue 1-2 281-285 doi: 10.1016/j.vetmic.2013.05.006
Lindahl SB, Aspán A, Båverud V, Paillot R, Pringle J, Rash NL, Söderlund R, Waller AS.Streptococcus equi subsp. zooepidemicus (S. zooepidemicus) is generally considered a commensal and an opportunistic pathogen of the upper airways in horses. Establishing whether certain strains of S. zooepidemicus can cause upper respiratory disease as a host-specific pathogen of horses, and if there are certain genogroups of S. zooepidemicus that are more virulent than others is of major clinical importance. In this study, we describe an outbreak of upper respiratory disease in horses that was associated with S. zooepidemicus. Upper respiratory samples were cultured, analyzed by real-time PCR...
Genetic analysis of haematological and plasma biochemical parameters in the Spanish purebred horse exercised on a treadmill.
Animal : an international journal of animal bioscience    May 24, 2013   Volume 7, Issue 9 1414-1422 doi: 10.1017/S1751731113000955
Escribano BM, Molina A, Valera M, Tovar P, Agüera EI, Santisteban R, Vivo R, Agüera S, Rubio MD.The novel aim of this study was to describe the reference values of different haematological and biochemical parameters in the Spanish purebred horse (Andalusian, SPB) in each of the stages of a programmed exercise on a treadmill system, and to establish heritability and genetic correlations for these haematological and biochemical parameters. For this, 94 young SPB male horses (4.22 ± 2.27 years old) were used. An increasing intensity exercise test at 4, 5, 6 and 7 m/s was carried out on a treadmill (6% inclination). Total red blood cells, total white blood cells, neutrophils and lymphocytes...
Genetic Analysis of the Neuraminidase (NA) Gene of Equine Influenza Virus (H3N8) from Epizootic of 2008-2009 in India.
Indian journal of virology : an official organ of Indian Virological Society    May 24, 2013   Volume 24, Issue 2 256-264 doi: 10.1007/s13337-013-0137-0
Bera BC, Virmani N, Shanmugasundaram K, Vaid RK, Singh BK, Gulati BR, Anand T, Barua S, Malik P, Singh RK.The neuraminidase (NA) gene sequences of four Indian equine influenza viruses (EIVs) isolated from epizootic in 2008 and 2009 were analyzed. The phylogenetic relationship and selection pressure of NA genes were established in comparison to other EIVs circulating worldwide along with the domains and motifs of the encoded protein to find out the significance of mutational changes. Among Indian isolates, two amino acid (aa) changes each in Mysore/12/08 (Asn67Tyr & Asp396Gly), Gopeshwar/1/09 (Ile49Val & Asp396Gly), and Uttarkashi/1/09 (Ile49Val & Asp396Gly) isolates were observed in re...
Changes in DNA methylation patterns and repetitive sequences in blood lymphocytes of aged horses.
Age (Dordrecht, Netherlands)    May 23, 2013   Volume 36, Issue 1 31-48 doi: 10.1007/s11357-013-9541-z
Wnuk M, Lewinska A, Gurgul A, Zabek T, Potocki L, Oklejewicz B, Bugno-Poniewierska M, Wegrzyn M, Slota E.It is known that aged organisms have modified epigenomes. Epigenetic modifications, such as changes in global and locus-specific DNA methylation, and histone modifications are suspected to play an important role in cancer development and aging. In the present study, with the well-established horse aging model, we showed the global loss of DNA methylation in blood lymphocytes during juvenile-to-aged period. Additionally, we tested a pattern of DNA methylation of ribosomal DNA and selected genes such as IGF2 and found no significant changes during development and aging. We asked if genetic compo...
Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses.
BMC veterinary research    May 23, 2013   Volume 9 105 doi: 10.1186/1746-6148-9-105
Cavalleri JM, Metzger J, Hellige M, Lampe V, Stuckenschneider K, Tipold A, Beineke A, Becker K, Distl O, Feige K.Cerebellar abiotrophy (CA) is a rare but significant disease in Arabian horses caused by progressive death of the Purkinje cells resulting in cerebellar ataxia characterized by a typical head tremor, jerky head movements and lack of menace response. The specific role of magnetic resonance imaging (MRI) to support clinical diagnosis has been discussed. However, as yet MR imaging has only been described in one equine CA case. The role of MR morphometry in this regard is currently unknown. Due to the hereditary nature of the disease, genetic testing can support the diagnosis of CA. Therefore, the...
Bright future for research in horse breeding!
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    May 18, 2013   Volume 130, Issue 3 167-169 doi: 10.1111/jbg.12040
Arnason T.No abstract available
Infections by Babesia caballi and Theileria equi in Jordanian equids: epidemiology and genetic diversity.
Parasitology    May 15, 2013   Volume 140, Issue 9 1096-1103 doi: 10.1017/S0031182013000486
Qablan MA, Oborník M, Petrželková KJ, Sloboda M, Shudiefat MF, Hořín P, Lukeš J, Modrý D.Microscopic diagnosis of equine piroplasmoses, caused by Theileria equi and Babesia caballi, is hindered by low parasitaemia during the latent phase of the infections. However, this constraint can be overcome by the application of PCR followed by sequencing. Out of 288 animals examined, the piroplasmid DNA was detected in 78 (27·1%). Multiplex PCR indicated that T. equi (18·8%) was more prevalent than B. caballi (7·3%), while mixed infections were conspicuously absent. Sequences of 69 PCR amplicons obtained by the 'catch-all' PCR were in concordance with those amplified by the multiplex str...
Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.
Veterinary pathology    May 15, 2013   Volume 50, Issue 6 1037-1042 doi: 10.1177/0300985813488955
Sipma KD, Cornillie P, Saulez MN, Stout TA, Voorhout G, Back W.Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this co...