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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.
IHH gene polymorphism among three horse breeds and its application for association test in horses with osteochondrosis.
Hereditas    July 8, 2013   Volume 150, Issue 2-3 38-43 doi: 10.1111/j.1601-5223.2013.02282.x
Zabek T, Golonka P, Fornal A, Semik E.Genetic polymorphism of IHH gene were investigated in Angloarabian, Polish Coldblood and Polish Halfbred horses with the inclusion of a group of Polish Halfbreds affected by osteochondrosis. IHH is a good candidate gene for association study of developmental disorders mainly affecting skeleton development. DNA sequence spanning IHH gene annotated in the horse genome and its putative promoter were investigated using SANGER sequencing. Analysis of genetic variability at polymorphic sites in the IHH gene body and the promoter region confirmed genetic differences between warmblood and coldblood ho...
Lawsonia intracellularis infection and proliferative enteropathy in foals.
Veterinary microbiology    July 6, 2013   Volume 167, Issue 1-2 34-41 doi: 10.1016/j.vetmic.2013.06.017
Pusterla N, Gebhart C.Equine proliferative enteropathy (EPE) is a disease of foals caused by the obligate intracellular organism Lawsonia intracellularis. This organism is unique in that it causes proliferation of infected enterocytes, resulting in thickening of the intestinal epithelium, most often the small intestine. This disease affects mainly weanling foals and causes fever, lethargy, peripheral edema, diarrhea, colic and weight loss. The diagnosis of EPE may be challenging and relies on the presence of hypoproteinemia, thickening of segments of the small intestinal wall observed on abdominal ultrasonography, ...
Comparative genome sequencing identifies a prophage-associated genomic island linked to host adaptation of Lawsonia intracellularis infections.
Veterinary research    July 4, 2013   Volume 44, Issue 1 49 doi: 10.1186/1297-9716-44-49
Vannucci FA, Kelley MR, Gebhart CJ.Lawsonia intracellularis is an obligate intracellular bacterium and the causative agent of proliferative enteropathy (PE). The disease is endemic in pigs, emerging in horses and has also been reported in a variety of other animal species, including nonhuman primates. Comparing the whole genome sequences of a homologous porcine L. intracellularis isolate cultivated for 10 and 60 passages in vitro, we identified a 18-kb prophage-associated genomic island in the passage 10 (pathogenic variant) that was lost in the passage 60 (non-pathogenic variant). This chromosomal island comprises 15 genes dow...
The molecular basis for recognition of bacterial ligands at equine TLR2, TLR1 and TLR6.
Veterinary research    July 4, 2013   Volume 44, Issue 1 50 doi: 10.1186/1297-9716-44-50
Irvine KL, Hopkins LJ, Gangloff M, Bryant CE.TLR2 recognises bacterial lipopeptides and lipoteichoic acid, and forms heterodimers with TLR1 or TLR6. TLR2 is relatively well characterised in mice and humans, with published crystal structures of human TLR2/1/Pam3CSK4 and murine TLR2/6/Pam2CSK4. Equine TLR4 is activated by a different panel of ligands to human and murine TLR4, but less is known about species differences at TLR2. We therefore cloned equine TLR2, TLR1 and TLR6, which showed over 80% sequence identity with these receptors from other mammals, and performed a structure-function analysis. TLR2/1 and TLR2/6 from both horses and hu...
Three slight imprecisions in “Illustrated identification keys to strongylid parasites of Equidae” by Lichtenfels et al. (2008).
Veterinary parasitology    July 3, 2013   Volume 197, Issue 1-2 405-406 doi: 10.1016/j.vetpar.2013.06.017
Stancampiano L, Usai F, Pollio G.No abstract available
Differential expression of three members of the multidomain adhesion CCp family in Babesia bigemina, Babesia bovis and Theileria equi.
PloS one    July 3, 2013   Volume 8, Issue 7 e67765 doi: 10.1371/journal.pone.0067765
Bastos RG, Suarez CE, Laughery JM, Johnson WC, Ueti MW, Knowles DP.Members of the CCp protein family have been previously described to be expressed on gametocytes of apicomplexan Plasmodium parasites. Knocking out Plasmodium CCp genes blocks the development of the parasite in the mosquito vector, making the CCp proteins potential targets for the development of a transmission-blocking vaccine. Apicomplexans Babesia bovis and Babesia bigemina are the causative agents of bovine babesiosis, and apicomplexan Theileria equi causes equine piroplasmosis. Bovine babesiosis and equine piroplasmosis are the most economically important parasite diseases that affect world...
Mitochondrial and pedigree analysis in Przewalski’s horse populations: implications for genetic management and reintroductions.
Mitochondrial DNA    July 1, 2013   Volume 25, Issue 4 313-318 doi: 10.3109/19401736.2013.800487
Liu G, Xu CQ, Cao Q, Zimmermann W, Songer M, Zhao SS, Li K, Hu DF.Przewalski's horses have been imported from the western zoos to China since 1985. Yet the genetic diversity in China's populations has not been studied, thus lacking of such knowledge inevitably affects this population's management. The aim of this study was to assess genetic diversity in Chinese population of Przewalski's horses via mitochondrial DNA (mtDNA) control region and pedigree analysis. Methods: Two captive and one reintroduced populations were examined based on mitochondrial DNA control region variation via fecal sampling from 2010 to 2012, together with pedigree analysis. Results: ...
Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse.
Nature    June 26, 2013   Volume 499, Issue 7456 74-78 doi: 10.1038/nature12323
Orlando L, Ginolhac A, Zhang G, Froese D, Albrechtsen A, Stiller M, Schubert M, Cappellini E, Petersen B, Moltke I, Johnson PL, Fumagalli M....The rich fossil record of equids has made them a model for evolutionary processes. Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560-780 thousand years before present (kyr BP). Our data represent the oldest full genome sequence determined so far by almost an order of magnitude. For comparison, we sequenced the genome of a Late Pleistocene horse (43 kyr BP), and modern genomes of five domestic horse breeds (Equus ferus caballus), a Przewalski's horse (E. f. przewalskii) and a donkey (E. asinus). Our analyses suggest that ...
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...