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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.
Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases.
Mammalian genome : official journal of the International Mammalian Genome Society    April 5, 2011   Volume 22, Issue 5-6 353-360 doi: 10.1007/s00335-011-9325-7
Andersson LS, Lyberg K, Cothran G, Ramsey DT, Juras R, Mikko S, Ekesten B, Ewart S, Lindgren G.The syndrome Multiple Congenital Ocular Anomalies (MCOA) is the collective name ascribed to heritable congenital eye defects in horses. Individuals homozygous for the disease allele (MCOA phenotype) have a wide range of eye anomalies, while heterozygous horses (Cyst phenotype) predominantly have cysts that originate from the temporal ciliary body, iris, and/or peripheral retina. MCOA syndrome is highly prevalent in the Rocky Mountain Horse but the disease is not limited to this breed. Affected horses most often have a Silver coat color; however, a pleiotropic link between these phenotypes is y...
Mesenteric lymphangitis and sepsis due to RTX toxin-producing Actinobacillus spp in 2 foals with hypothyroidism-dysmaturity syndrome.
Veterinary pathology    April 1, 2011   Volume 49, Issue 4 592-601 doi: 10.1177/0300985811402844
Löhr CV, Polster U, Kuhnert P, Karger A, Rurangirwa FR, Teifke JP.Actinobacillus suis-like organisms (ASLOs) have been isolated from the genital, respiratory, and digestive tracts of healthy adult horses, horses with respiratory disease, and septic foals. Two foals with congenital hypothyroidism-dysmaturity syndrome from separate farms developed ASLO infection. At necropsy, both had contracted carpal flexor tendons, thyroid hyperplasia, and thrombotic and necrotizing mesenteric lymphangitis and lymphadenitis; one foal also had mandibular prognathism. Numerous ASLOs were isolated from tissues from both foals, including intestine. Biochemical testing and mass ...
Equine encephalomyelitis outbreak caused by a genetic lineage 2 West Nile virus in Hungary.
Journal of veterinary internal medicine    April 1, 2011   Volume 25, Issue 3 586-591 doi: 10.1111/j.1939-1676.2011.0715.x
Kutasi O, Bakonyi T, Lecollinet S, Biksi I, Ferenczi E, Bahuon C, Sardi S, Zientara S, Szenci O.The spread of lineage 2 West Nile virus (WNV) from sub-Saharan regions to Europe and the unpredictable change in pathogenicity indicate a potential public and veterinary health threat and requires scientific awareness. Objective: To describe the results of clinical and virological investigations of the 1st outbreak of a genetic lineage 2 WNV encephalomyelitis in horses. Methods: Seventeen horses with neurologic signs. Methods: Information regarding signalment, clinical signs, and outcome was obtained for each animal. Serology was performed in 15 cases, clinicopathological examination in 7 case...
Tracing outbreaks of Streptococcus equi infection (strangles) in horses using sequence variation in the seM gene and pulsed-field gel electrophoresis.
Veterinary microbiology    March 30, 2011   Volume 153, Issue 1-2 144-149 doi: 10.1016/j.vetmic.2011.03.027
Lindahl S, Söderlund R, Frosth S, Pringle J, Båverud V, Aspán A.Strangles is a serious respiratory disease in horses caused by Streptococcus equi subspecies equi (S. equi). Transmission of the disease occurs by direct contact with an infected horse or contaminated equipment. Genetically, S. equi strains are highly homogenous and differentiation of strains has proven difficult. However, the S. equi M-protein SeM contains a variable N-terminal region and has been proposed as a target gene to distinguish between different strains of S. equi and determine the source of an outbreak. In this study, strains of S. equi (n=60) from 32 strangles outbreaks in Sweden ...
European domestic horses originated in two holocene refugia.
PloS one    March 30, 2011   Volume 6, Issue 3 e18194 doi: 10.1371/journal.pone.0018194
Warmuth V, Eriksson A, Bower MA, Cañon J, Cothran G, Distl O, Glowatzki-Mullis ML, Hunt H, Luís C, do Mar Oom M, Yupanqui IT, Ząbek T, Manica A.The role of European wild horses in horse domestication is poorly understood. While the fossil record for wild horses in Europe prior to horse domestication is scarce, there have been suggestions that wild populations from various European regions might have contributed to the gene pool of domestic horses. To distinguish between regions where domestic populations are mainly descended from local wild stock and those where horses were largely imported, we investigated patterns of genetic diversity in 24 European horse breeds typed at 12 microsatellite loci. The distribution of high levels of gen...
First genetic characterization of equine adenovirus type 1 (EAdV-1) in Turkey.
Research in veterinary science    March 25, 2011   Volume 92, Issue 2 324-326 doi: 10.1016/j.rvsc.2011.03.001
Ataseven VS, Oğuzoğlu TÇ, Başaran-Karapınar Z, Bilge-Dağalp S.Equine adenovirus type 1 (EAdV-1) is a cause of repiratory tract infection in equids. In present study for the first time in Turkey, the prevalence of EAdV-1 in nasal swab samples obtained from horses showing respiratory symptoms was investigated by polymerase chain reaction (PCR), and molecular characterization of the hexon gene detected in the Turkish (TR) strain was performed. Overall, the prevalence of EAdV-1 was found low (1.4%) as indicated by a positive PCR reaction from the nasal swab extracts tested. Phylogenetic analysis based on the partial sequences of the hexon gene of a TR-EAdV-1...
The mitochondria of stallion spermatozoa are more sensitive than the plasmalemma to osmotic-induced stress: role of c-Jun N-terminal kinase (JNK) pathway.
Journal of andrology    March 24, 2011   Volume 33, Issue 1 105-113 doi: 10.2164/jandrol.110.011957
García BM, Moran AM, Fernández LG, Ferrusola CO, Rodriguez AM, Bolaños JM, da Silva CM, Martínez HR, Tapia JA, Peña FJ.Cryopreservation introduces extreme temperature and osmolality changes that impart lethal and sublethal effects on spermatozoa. Additionally, there is evidence that the osmotic stress induced by cryopreservation causes oxidative stress to spermatozoa. The main sources of reactive oxygen species in mammalian sperm are the mitochondria. In view of this, the aim of our study was to test whether or not osmotic stress was able to induce mitochondrial damage and to explore the osmotic tolerance of the mitochondria of stallion spermatozoa. Ejaculates from 7 stallions were subjected to osmolalities ra...
Expression of functional melatonin MT(1) receptors in equine luteal cells: in vitro effects of melatonin on progesterone secretion.
Reproduction, fertility, and development    March 24, 2011   Volume 23, Issue 3 417-423 doi: 10.1071/RD10137
Pedreros M, Ratto M, Guerra M.In the present study, we analysed the molecular mechanism(s) by which melatonin directly affects ovarian function in the mare. In Experiment 1, follicles and corpora lutea (CL) were collected from slaughterhouse ovaries and analysed for melatonin (MT(1)) receptor mRNA and protein. In Experiment 2, CL were collected from slaughterhouse ovaries and cultured in Dulbecco's modified Eagle's medium-F12 medium (control medium) supplemented with 50 ng mL(-1) equine chorionic gonadotrophin (eCG), 1 nM-1 μM melatonin, 1 μM forskolin or 1 μM luzindole. Explants were cultured for 3 h in the presence of...
Genome-scale evolution and phylodynamics of equine H3N8 influenza A virus.
Journal of virology    March 23, 2011   Volume 85, Issue 11 5312-5322 doi: 10.1128/JVI.02619-10
Murcia PR, Wood JL, Holmes EC.Equine influenza viruses (EIVs) of the H3N8 and H7N7 subtypes are the causative agents of an important disease of horses. While EIV H7N7 apparently is extinct, H3N8 viruses have circulated for more than 50 years. Like human influenza viruses, EIV H3N8 caused a transcontinental pandemic followed by further outbreaks and epidemics, even in populations with high vaccination coverage. Recently, EIV H3N8 jumped the species barrier to infect dogs. Despite its importance as an agent of infectious disease, the mechanisms that underpin the evolutionary and epidemiological dynamics of EIV are poorly und...
Equine sperm nuclei with different ploidy levels: relationship between the nuclear DNA content and the nuclear area.
Andrologia    March 23, 2011   Volume 43, Issue 4 248-253 doi: 10.1111/j.1439-0272.2010.01059.x
Spirito S, Campi S, Boquet M, Fernández H, Ferrari M.The aims of this study were to estimate the ability of the Feulgen reaction to identify equine sperm nuclei with different ploidy levels, to determine the frequency of haploid, diploid and polyploid sperm nuclei in the semen of fertile equines and to evaluate the relationship between the nuclear DNA content and the nuclear area. Determination of the ploidy level of Feulgen-stained spermatozoa using a scanning microspectrophotometer was very similar to the subjective estimations made with a light microscope. This indicates that the Feulgen reaction is a simple, inexpensive and reliable techniqu...
Molecular evolution of the six internal genes of H5N1 equine influenza A virus.
Archives of virology    March 23, 2011   Volume 156, Issue 7 1257-1262 doi: 10.1007/s00705-011-0966-3
Abdel-Moneim AS, Shehab GM, Abu-Elsaad AA.Phylogenetic and evolutionary patterns of the six internal genes of an equine H5N1 influenza A virus isolated in Egypt on 2009 were analyzed using direct sequencing. All of the internal genes of the equine H5N1 strain showed a genetic pattern potentially related to Eurasian lineages. Variable dendrogram topologies revealed an absence of reassortment in the equine strain while confirming its close relatedness to other Egyptian H5N1 strains from human and avian species. The equine strain is characterized by a variety of amino acid substitutions in six internal proteins compared to the available ...
Host associated polymorphisms in the Corynebacterium pseudotuberculosis rpoB gene sequence.
Veterinary microbiology    March 21, 2011   Volume 151, Issue 3-4 400-403 doi: 10.1016/j.vetmic.2011.03.012
Retamal P, Ríos M, Cheuquepán F, Abalos P, Pizarro-Lucero J, Borie C, Gutierrez J.Corynebacterium pseudotuberculosis is a widespread facultative intracellular pathogen that causes caseous lymphadenitis disease in sheep and goats, and generates cutaneous abscesses and granulomas in horses and cattle. Although some genes have been studied for diagnostic and phylogenetic analysis within the genus Corynebacterium, at subspecies level the pathogen has been poorly analyzed. The aim of this study was to characterize C. pseudotuberculosis strains isolated from domestic animals, through the sequencing of a hypervariable rpoB gene segment. As result, there were identified host associ...
Improvement of embryo production by the replacement of the last two doses of porcine follicle-stimulating hormone with equine chorionic gonadotropin in Sindhi donors.
Animal reproduction science    March 17, 2011   Volume 125, Issue 1-4 119-123 doi: 10.1016/j.anireprosci.2011.02.028
Mattos MC, Bastos MR, Guardieiro MM, Carvalho JO, Franco MM, Mourão GB, Barros CM, Sartori R.The aim of this study was to evaluate the superovulatory (SOV) response of Sindhi (Bos indicus) donors submitted to an ovarian follicular superstimulatory protocol replacing the last two doses of pFSH by eCG. Forty-eight SOV treatments were performed in a crossover design in 19 nulliparous and primiparous females that were randomly divided into two groups: FSH (n=24), which consisted of eight pFSH injections, or FSH/eCG (n=24), which consisted of six pFSH injections followed by two eCG injections. Each female underwent two or three SOV treatments that consisted of an i.m. injection of 2mg estr...
Comparative evolutionary analyses of beta globin gene in eutherian, dinosaurian and neopterygii taxa.
Journal of vector borne diseases    March 17, 2011   Volume 48, Issue 1 27-36 
Awasthi G, Srivastava G, Das A.Comparative genomics and evolutionary analyses of conserved genes have enabled us to understand the complexity of genomes of closely related species. For example: β-globin gene present in human hemoglobin is one such gene that has experienced many genetic changes in many related taxa and produced more than 600 variants. One of the variant, HBS causes sickle-cell anemia in humans but offers protection against severe malaria due to Plasmodium falciparum. In the present study, we characterized and performed evolutionary comparative analyses of the ?-globin gene in different related and unrelated...
Physical, behavioral, endocrinologic, and cytogenetic evaluation of two Standardbred racehorses competing as mares with an intersex condition and high postrace serum testosterone concentrations.
Journal of the American Veterinary Medical Association    March 16, 2011   Volume 238, Issue 6 751-754 doi: 10.2460/javma.238.6.751
Knobbe MG, Maenhoudt C, Turner RM, McDonnell SM.2 Standardbred racehorses that had been winning races while competing as mares underwent postrace drug testing and had serum testosterone concentrations above the acceptable limit for female racehorses. Results: Initial physical examinations by the referring veterinarian revealed ambiguous external genitalia and suspected intra-abdominally located testes leading to a preliminary diagnosis of male pseudohermaphroditism. Horses were referred for further evaluation of sex. Physical examination of the external genitalia confirmed the findings of the referring veterinarian. Transrectal palpation an...
Effects of two training protocols on Angiotensin I-converting enzyme (ACE) activity in horses.
Equine veterinary journal    March 15, 2011   Volume 43, Issue 4 466-470 doi: 10.1111/j.2042-3306.2010.00320.x
Costa MF, Davies HM, Anderson GA, Slocombe RF.Studies in man have shown a correlation between Angiotensin I-converting enzyme (ACE) genetic polymorphisms, ACE activity in the blood and superior athletic performance in sports requiring endurance. It has been hypothesised that the same correlation occurs in horses. There is no information in the literature concerning the effects of training on ACE activity in equine plasma. Objective: Exercise training influences the activity of circulating ACE and the response observed is dependent on the exercise protocol. Methods: Thirteen horses of mixed breeds were randomly allocated 2 different traini...
The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds.
Equine veterinary journal    March 15, 2011   Volume 43, Issue 6 727-731 doi: 10.1111/j.2042-3306.2010.00349.x
Brault LS, Penedo MC.A putative mutation causative of cerebellar abiotrophy (CA), a genetic defect found almost exclusively in Arabian horses, was recently identified. Objective: To investigate the presence of the CA mutation in breeds other than Arabian and ascertain whether the mutation had been introduced into these breeds by Arabian ancestry. The CA mutation is present in breeds of horses with Arabian ancestry. Methods: Allele-specific PCR was used to genotype 1845 non-Arabian horses for the CA mutation. For those breeds in which at least one carrier was identified, an additional 266 horses were genotyped to d...
Expressed gene sequence of the IFNγ-response chemokine CXCL9 of cattle, horses, and swine.
Veterinary immunology and immunopathology    March 15, 2011   Volume 141, Issue 3-4 317-321 doi: 10.1016/j.vetimm.2011.02.015
Hudgens E, Tompkins D, Boyd P, Lunney JK, Horohov D, Baldwin CL.This report describes the cloning and characterization of expressed gene sequences of bovine, equine, and swine CXCL9 from RNA obtained from peripheral blood mononuclear cells (PBMC) and other tissues. The bovine coding region was 378 nucleotides in length, while the equine and swine coding regions were 381 nucleotides. Mapping showed that all three sequences were coded for in four exons in the genome, as are the human and mouse genes. The bovine, equine, and swine coding regions shared 83%, 86%, and 84% homology with human CXCL9, respectively, and all three were 74% homologous with mouse CXCL...
Enhanced IL-6 transcriptional response to adenosine receptor ligands in horses with lower airway inflammation.
Equine veterinary journal    March 15, 2011   Volume 44, Issue 1 81-87 doi: 10.1111/j.2042-3306.2010.00350.x
Zhang L, Franchini M, Wehrli Eser M, Dip R.Accumulation of extracellular adenosine has been closely associated with human asthmatic responses. However, the relevance of adenosine signalling in equine airways has not previously been investigated. Objective: To determine the expression of adenosine receptors (AR) in bronchoalveolar lavage (BAL) cells and assess the reactivity of these cells to AR ligands ex vivo, employing IL-6 as readout of adenosinergic inflammatory signalling. Methods: Eight horses with varying degrees of lower airway inflammation and 10 healthy controls were analysed. Expression of AR-subtypes in each BAL sample was ...
Preface: endocrine diseases.
The Veterinary clinics of North America. Equine practice    March 12, 2011   Volume 27, Issue 1 xi-xii doi: 10.1016/j.cveq.2011.01.003
Toribio RE.No abstract available
Equine hyperlipidemias.
The Veterinary clinics of North America. Equine practice    March 12, 2011   Volume 27, Issue 1 59-72 doi: 10.1016/j.cveq.2010.12.008
McKenzie HC.Hyperlipidemia is the presence of elevated lipid concentrations in the blood and is associated with periods of negative energy balance and physiologic stress. In increased concentrations, circulating lipids typically occur in the triglyceride form, which may interfere with numerous normal physiologic functions, particularly by reducing insulin sensitivity. Although the hyperlipidemia risk is greatest in ponies, miniature horses, and donkeys, all equids are at risk if they are in a situation involving negative energy balance. The sedentary lifestyle of many modern horses and the frequent feedin...
Hypothalamic-pituitary gland axis function and dysfunction in horses.
The Veterinary clinics of North America. Equine practice    March 12, 2011   Volume 27, Issue 1 1-17 doi: 10.1016/j.cveq.2010.12.006
Hurcombe SD.Hypothalamic-pituitary (HP) dysfunction has been documented in a limited capacity in horses and foals associated with critical illness, stress, and pain. This article reviews species-specific details of anatomy, function, hormones, receptors, and testing of the HP axis in the horse. A discussion of critical care medicine relevant to HP dysfunction in the horse with some reference to current understanding in human medicine is made, focusing primarily on current and relevant literature. A brief mention of other conditions described in human and veterinary medicine is also provided for reference ...
Dietary change and evolution of horses in North America.
Science (New York, N.Y.)    March 10, 2011   Volume 331, Issue 6021 1178-1181 doi: 10.1126/science.1196166
Mihlbachler MC, Rivals F, Solounias N, Semprebon GM.The evolution of high-crowned molars among horses (Family Equidae) is thought to be an adaptation for abrasive diets associated with the spread of grasslands. The sharpness and relief of the worn cusp apices of teeth (mesowear) are a measure of dietary abrasion. We collected mesowear data for North American Equidae for the past 55.5 million years to test the association of molar height and dietary abrasion. Mesowear trends in horses are reflective of global cooling and associated vegetation changes. There is a strong correlation between mesowear and crown height in horses; however, most horse ...
Molecular cloning and characterization of phospholipase C zeta in equine sperm and testis reveals species-specific differences in expression of catalytically active protein.
Biology of reproduction    March 9, 2011   Volume 85, Issue 1 78-88 doi: 10.1095/biolreprod.110.089466
Bedford-Guaus SJ, McPartlin LA, Xie J, Westmiller SL, Buffone MG, Roberson MS.Oocyte activation at fertilization is brought about by the testis-specific phospholipase C zeta (PLCZ), owing to its ability to induce oscillations in intracellular Ca(2+) concentration ([Ca(2+)](i)). Whereas this is a highly conserved mechanism among mammals, important species-specific differences in PLCZ sequence, activity, and expression have been reported. Thus, the objectives of this research were to clone and characterize the intracellular Ca(2+)-releasing activity and expression of equine PLCZ in sperm and testis. Molecular cloning of equine PLCZ yielded a 1914-bp sequence that translat...
Determination of angiotensin I-converting enzyme activity in equine blood: lack of agreement between methods of analysis.
Journal of veterinary science    March 4, 2011   Volume 12, Issue 1 21-25 doi: 10.4142/jvs.2011.12.1.21
Costa MF, Carmona AK, Alves MF, Ryan TM, Davies HM, Anderson GA, Slocombe RF.Angiotensin-I converting enzyme (ACE) is a key regulator of blood pressure, electrolytes and fluid homeostasis through conversion of angiotensin I into angiotensin II. Recently, a genetic polymorphism of the ACE gene, which accounts for 47% of the variation of ACE activity in blood, has been advocated as a biomarker of athletic aptitude. Different methods of analysis and determination of ACE activity in plasma have been used in human and equine research without a consensus of a "gold standard" method. Different methods have often been used interchangeably or cited as being comparable in the ex...
Ocular anomalies in a herd of Exmoor ponies in Canada.
Veterinary ophthalmology    March 4, 2011   Volume 14, Issue 2 100-108 doi: 10.1111/j.1463-5224.2010.00847.x
Pinard CL, Basrur PK.To characterize the ocular anomalies, determine their recurrence in families and assess the mode of inheritance of the most prevalent anomalies through pedigree analysis in a herd of Exmoor ponies. Methods: Thirty Exmoor ponies residing in south-western Ontario, Canada. Methods: Ophthalmic examination was performed using direct ophthalmoscopy, slit-lamp biomicroscopy and indirect ophthalmoscopy, pre- and post-pupillary dilation. Following compilation of ocular findings, pedigree analysis was conducted to assess the recurrence pattern of specific anomalies in families and the data were tested f...
A suspect horse excluded by analysis of species- and male-specific DNA and mtDNA.
Forensic science international    March 3, 2011   Volume 207, Issue 1-3 e66-e68 doi: 10.1016/j.forsciint.2011.02.006
Xu H, Han W, Zhao C, Manglai D.No abstract available
Genetic variability in the Skyros pony and its relationship with other Greek and foreign horse breeds.
Genetics and molecular biology    March 1, 2011   Volume 34, Issue 1 68-76 doi: 10.1590/S1415-47572010005000113
Bömcke E, Gengler N, Cothran EG.In Greece, seven native horse breeds have been identified so far. Among these, the Skyros pony is outstanding through having a distinct phenotype. In the present study, the aim was to assess genetic diversity in this breed, by using different types of genetic loci and available genealogical information. Its relationships with the other Greek, as well as foreign, domestic breeds were also investigated. Through microsatellite and pedigree analysis it appeared that the Skyros presented a similar level of genetic diversity to the other European breeds. Nevertheless, comparisons between DNA-based a...
A unique genotype of Leptospira interrogans serovar Pomona type kennewicki is associated with equine abortion.
Veterinary microbiology    February 26, 2011   Volume 150, Issue 3-4 349-353 doi: 10.1016/j.vetmic.2011.02.049
Timoney JF, Kalimuthusamy N, Velineni S, Donahue JM, Artiushin SC, Fettinger M.Although serologic data indicate horses in N. America are exposed to a variety of leptospiral serovars, abortion is almost always associated with Leptospira interrogans serovar Pomona type kennewicki. A variety of wildlife including raccoons, white tailed deer, striped skunks, opossums, and red and grey foxes have been shown to host serovar Pomona and have therefore been suspect as sources of infection for pregnant mares. The aim of the present study was to examine genetic diversity in serovar Pomona type kennewicki in wildlife and in aborting mares. Our approach utilized PCR that targeted tan...
Induced pluripotent stem cell lines derived from equine fibroblasts.
Stem cell reviews and reports    February 25, 2011   Volume 7, Issue 3 693-702 doi: 10.1007/s12015-011-9239-5
Nagy K, Sung HK, Zhang P, Laflamme S, Vincent P, Agha-Mohammadi S, Woltjen K, Monetti C, Michael IP, Smith LC, Nagy A.The domesticated horse represents substantial value for the related sports and recreational fields, and holds enormous potential as a model for a range of medical conditions commonly found in humans. Most notable of these are injuries to muscles, tendons, ligaments and joints. Induced pluripotent stem (iPS) cells have sparked tremendous hopes for future regenerative therapies of conditions that today are not possible to cure. Equine iPS (EiPS) cells, in addition to bringing promises to the veterinary field, open up the opportunity to utilize horses for the validation of stem cell based therapi...