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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.
Structures of bovine, equine and leporine serum albumin.
Acta crystallographica. Section D, Biological crystallography    September 13, 2012   Volume 68, Issue Pt 10 1278-1289 doi: 10.1107/S0907444912027047
Bujacz A.Serum albumin first appeared in early vertebrates and is present in the plasma of all mammals. Its canonical structure supported by a conserved set of disulfide bridges is maintained in all mammalian serum albumins and any changes in sequence are highly correlated with evolution of the species. Previous structural investigations of mammalian serum albumins have only concentrated on human serum albumin (HSA), most likely as a consequence of crystallization and diffraction difficulties. Here, the crystal structures of serum albumins isolated from bovine, equine and leporine blood plasma are repo...
The genes of all seven CYP3A isoenzymes identified in the equine genome are expressed in the airways of horses.
Journal of veterinary pharmacology and therapeutics    September 12, 2012   Volume 36, Issue 4 370-375 doi: 10.1111/jvp.12012
Tydén E, Löfgren M, Hakhverdyan M, Tjälve H, Larsson P.In the present study, we examined the gene expression of cytochrome P450 3A (CYP3A) isoenzymes in the tracheal and bronchial mucosa and in the lung of equines using TaqMan probes. The results show that all seven CYP3A isoforms identified in the equine genome, that is, CYP3A89, CYP3A93, CYP3A94, CYP3A95, CYP3A96, CYP3A97 and CYP3A129, are expressed in the airways of the investigated horses. Though in previous studies, CYP3A129 was found to be absent in equine intestinal mucosa and liver, this CYP3A isoform is expressed in the airways of horses. The gene expression of the CYP3A isoenzymes varied...
Whole transcriptome analyses of six thoroughbred horses before and after exercise using RNA-Seq.
BMC genomics    September 12, 2012   Volume 13 473 doi: 10.1186/1471-2164-13-473
Park KD, Park J, Ko J, Kim BC, Kim HS, Ahn K, Do KT, Choi H, Kim HM, Song S, Lee S, Jho S, Kong HS, Yang YM, Jhun BH, Kim C, Kim TH, Hwang S, Bhak J....Thoroughbred horses are the most expensive domestic animals, and their running ability and knowledge about their muscle-related diseases are important in animal genetics. While the horse reference genome is available, there has been no large-scale functional annotation of the genome using expressed genes derived from transcriptomes. Results: We present a large-scale analysis of whole transcriptome data. We sequenced the whole mRNA from the blood and muscle tissues of six thoroughbred horses before and after exercise. By comparing current genome annotations, we identified 32,361 unigene cluster...
The potential of embryo transfer in a German horse-breeding programme.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    September 7, 2012   Volume 130, Issue 3 199-208 doi: 10.1111/jbg.12003
Sitzenstock F, Rathke I, Ytournel F, Simianer H.A reference horse-breeding programme with 13500 foals each year was modelled with ZPLAN+. This new software for the optimization of the structures in breeding programmes is based on ZPLAN. In two scenarios, the implementation of a rigorous selection of mares was implemented. In scenario I, the mare performance test was the point of selection, while in scenario II, further information on 20 competitions in two more years is available. These selected mares were used for embryo transfer (ET), partly in combination with multiple ovulation (MOET). The selection intensity and the number of foals out...
Follicular fluid leptin concentrations and expression of leptin and leptin receptor in the equine ovary and in vitro-matured oocyte with reference to pubertal development and breeds.
Reproduction, fertility, and development    September 7, 2012   Volume 25, Issue 5 837-846 doi: 10.1071/RD12188
Lange-Consiglio A, Arrighi S, Fiandanese N, Pocar P, Aralla M, Bosi G, Borromeo V, Berrini A, Meucci A, Dell'Aquila ME, Cremonesi F.There is no published information about follicular-fluid leptin concentrations or the presence of leptin and leptin receptor in the equine ovary or oocyte. Three groups of mares - adult draft mares, draft fillies and adult Standardbred mares - were included in the study. Leptin and leptin receptor were detected in all immature oocytes by immunofluorescence with higher intensity in oocytes from draft mares compared with draft fillies and Standardbred mares. After in vitro maturation a higher proportion of oocytes reached metaphase II in draft mares than in draft fillies and Standardbred mares, ...
Recovery of Arcobacter spp. from nonlivestock species.
Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians    September 7, 2012   Volume 42, Issue 3 508-512 doi: 10.1638/2010-0194.1
Wesley IV, Schroeder-Tucker L.The genus Arcobacter encompasses campylobacter-like organisms that grow in air at 25 degrees C. Arcobacter has been detected or isolated from clinically healthy livestock as well as aborted fetuses and has been presumptively identified as either Campylobacter or Leptospira, based on its growth in selective semisolid media. Because reports from nonlivestock species are limited, this study examined nine presumptive isolates of Arcobacter spp. from an alpaca (Vicugna pacos), black rhinoceros (Diceros bicornis), white rhinoceros (Ceratotherium simum), gorilla (Troglodytes gorilla), gazelle (Eudorc...
Venereal shedding of equid herpesvirus-1 (EHV-1) in naturally infected stallions.
Journal of veterinary internal medicine    September 4, 2012   Volume 26, Issue 6 1500-1504 doi: 10.1111/j.1939-1676.2012.00997.x
Walter J, Balzer HJ, Seeh C, Fey K, Bleul U, Osterrieder N.Equid herpesvirus 1 (EHV-1) is a highly prevalent pathogen in horse populations worldwide. Oronasal infection represents the classic route of disease transmission. Venereal shedding of EHV-1 is not regarded relevant in terms of virus spreading, which is in contrast to the close relatives of EHV-1, bovine and suid alphaherpesvirus, for which artificial insemination is a well-documented and accepted means of virus spread. Objective: Documentation of venereal EHV-1 shedding in 3 naturally infected stallions. Methods: Three stallions were infected during an acute outbreak by an EHV-1 strain with t...
Phylogenetic and structural studies of a novel equine papillomavirus identified from aural plaques.
Veterinary microbiology    September 1, 2012   Volume 162, Issue 1 85-93 doi: 10.1016/j.vetmic.2012.08.025
Taniwaki SA, Magro AJ, Gorino AC, Oliveira-Filho JP, Fontes MR, Borges AS, Araujo JP.Papillomaviruses (PVs) infect a wide range of animal species and show great genetic diversity. To date, excluding equine sarcoids, only three species of PVs were identified associated with lesions in horses: Equus caballus papillomavirus 1 (EcPV1-cutaneous), EcPV2 (genital) and EcPV3 (aural plaques). In this study, we identified a novel equine PV from aural plaques, which we designated EcPV4. Cutaneous samples from horses with lesions that were microscopically diagnosed as aural plaques were subjected to DNA extraction, amplification and sequencing. Rolling circle amplification and inverse PCR...
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.
Nature    August 31, 2012   Volume 488, Issue 7413 642-646 doi: 10.1038/nature11399
Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME....Locomotion in mammals relies on a central pattern-generating circuitry of spinal interneurons established during development that coordinates limb movement. These networks produce left-right alternation of limbs as well as coordinated activation of flexor and extensor muscles. Here we show that a premature stop codon in the DMRT3 gene has a major effect on the pattern of locomotion in horses. The mutation is permissive for the ability to perform alternate gaits and has a favourable effect on harness racing performance. Examination of wild-type and Dmrt3-null mice demonstrates that Dmrt3 is exp...
An investigation of the movement patterns and biosecurity practices on Thoroughbred and Standardbred stud farms in New Zealand.
Preventive veterinary medicine    August 31, 2012   Volume 108, Issue 2-3 178-187 doi: 10.1016/j.prevetmed.2012.08.003
Rosanowski SM, Cogger N, Rogers CW.Utilising a face-to-face interview of stud managers, a survey was conducted to investigate the movement patterns around, and biosecurity practices on, Thoroughbred and Standardbred stud farms. Eligible stud farms (n=60) were identified from the 2009 Thoroughbred stallion register and 2009 Standardbred stallion register, and stud managers were asked to participate in the interview. In total, 27 stud managers agreed to participate in the study, and participating stud farms included 38% of Thoroughbred and 60% of Standardbred mares bred in 2009. All stud managers reported the movement of horses t...
Expression of interleukin-1β, interleukin-8, and interferon-γ in blood samples obtained from healthy and sick neonatal foals.
American journal of veterinary research    August 29, 2012   Volume 73, Issue 9 1418-1427 doi: 10.2460/ajvr.73.9.1418
Castagnetti C, Mariella J, Pirrone A, Cinotti S, Mari G, Peli A.To evaluate and compare the gene expression of interleukin(IL)-1β, IL-8, and interferon-γ during the first 72 hours after birth in healthy foals and during the first 72 hours after hospitalization in sick neonatal foals and investigate correlations of clinicopathologic variables with cytokine expressions in healthy and sick neonatal foals. Methods: 33 foals < 7 days old (10 healthy foals, 7 foals with sepsis, 6 foals with peripartum asphyxia syndrome, and 12 foals with other diseases [2 with failure of passive transfer of immunity only were not further evaluated]). Methods: A blood sample...
Evidence that in vitro susceptibility of CD3+ T lymphocytes to equine arteritis virus infection reflects genetic predisposition of naturally infected stallions to become carriers of the virus.
Journal of virology    August 29, 2012   Volume 86, Issue 22 12407-12410 doi: 10.1128/JVI.01698-12
Go YY, Bailey E, Timoney PJ, Shuck KM, Balasuriya UB.We investigated the correlation between in vitro susceptibility of CD3(+) T lymphocytes to equine arteritis virus (EAV) infection and establishment of persistent infection among 14 stallions following natural infections. The data showed that carrier stallions with a CD3(+) T lymphocyte susceptibility phenotype to in vitro EAV infection may be at higher risk of becoming carriers than those that lack this phenotype (P = 0.0002).
Differential expression of TAR DNA-binding protein (TDP-43) in the central nervous system of horses afflicted with equine motor neuron disease (EMND): a preliminary study of a potential pathologic marker.
Veterinary research communications    August 24, 2012   Volume 36, Issue 4 221-226 doi: 10.1007/s11259-012-9533-y
El-Assaad I, Di Bari JA, Yasuda K, Divers TJ, Summers BA, de Lahunta A, Mohammed H.Equine motor neuron disease (EMND) is a neurodegenerative disorder of unknown etiology affecting horses worldwide. Trans-Active Response DNA Binding Protein of 43 kDa (TDP-43) has been reported in the central nervous system (CNS) of several neurodegenerative conditions in humans including Amyotrophic Lateral Sclerosis (ALS) and assumed to play role in the disease. We examined whether horses afflicted with EMND express the TDP-43 in CNS. Ten horses with EMND and 6 controls of different ages and breed we enrolled. Detection of presence of TDP-43 protein in the CNS was analyzed by immunohistoche...
Evaluation of Xist expression in preattachment equine embryos.
Theriogenology    August 24, 2012   Volume 78, Issue 7 1429-1436 doi: 10.1016/j.theriogenology.2012.05.026
Beckelmann J, Budik S, Bartel C, Aurich C.Until now, sex determination in equine embryos has been performed by detection of Y-chromosome-specific sequences only. In the present study, expression of a Barr-body-specific marker, the X-inactivated-specific transcript (Xist) gene, whose gene product consists of RNA which coats and thereby inactivates one of the X chromosomes, was investigated in equine embryos produced in vivo. Preattachment embryos at different times after ovulation (Day 8: n = 9; Day 10: n = 12; Day 12: n = 15) were analyzed for Xist RNA expression using quantitative and qualitative reverse transcription-polymerase chai...
The role of glycoprotein H of equine herpesviruses 1 and 4 (EHV-1 and EHV-4) in cellular host range and integrin binding.
Veterinary research    August 21, 2012   Volume 43, Issue 1 61 doi: 10.1186/1297-9716-43-61
Azab W, Zajic L, Osterrieder N.Equine herpesvirus type 1 and 4 (EHV-1 and EHV-4) glycoprotein H (gH) has been hypothesized to play a role in direct fusion of the virus envelope with cellular membranes. To investigate gH's role in infection, an EHV-1 mutant lacking gH was created and the gH genes were exchanged between EHV-1 and EHV-4 to determine if gH affects cellular entry and/or host range. In addition, a serine-aspartic acid-isoleucine (SDI) integrin-binding motif present in EHV-1 gH was mutated as it was presumed important in cell entry mediated by binding to α4β1 or α4β7 integrins. We here document that gH is esse...
Genetic diversity and population structure of Chinese pony breeds using microsatellite markers.
Genetics and molecular research : GMR    August 16, 2012   Volume 11, Issue 3 2629-2640 doi: 10.4238/2012.June.25.4
Xu LX, Yang SL, Lin RY, Yang HB, Li AP, Wan QS.China is one of the principal origins of ponies in the world. We made a comprehensive analysis of genetic diversity and population structure of Chinese ponies based on 174 animals of five indigenous Chinese pony breeds from five provinces using 13 microsatellite markers. One hundred and forty-four alleles were detected; the mean number of effective alleles among the pony breeds ranged from 5.38 (Guizhou) to 6.78 (Sichuan); the expected heterozygosity ranged from 0.82 (Guizhou) to 0.85 (Debao, Sichuan). Although abundant genetic variation was found, the genetic differentiation was low between t...
Making progress in the what, when and where of regenerative medicine for our equine patients.
Equine veterinary journal    August 15, 2012   Volume 44, Issue 5 511-512 doi: 10.1111/j.2042-3306.2012.00628.x
Fortier LA.No abstract available
Prospects for improving the efficiency of Thoroughbred breeding by individual tailoring of stallion mating frequency.
Equine veterinary journal    August 15, 2012   Volume 44, Issue 5 504-505 doi: 10.1111/j.2042-3306.2012.00626.x
Stout TA.No abstract available
Familial narcolepsy in the Lipizzaner horse: a report of three fillies born to the same sire.
The veterinary quarterly    August 14, 2012   Volume 32, Issue 2 99-102 doi: 10.1080/01652176.2012.714089
Ludvikova E, Nishino S, Sakai N, Jahn P.The occurrence of sleep disorder in three half sibling Lipizzaner is described. Sleepiness, swaying, stumbling, carpal joints buckling and falling down onto the carpal joints had been present since early foal age in all of them. Clinical signs had gradually reduced since the age of 2 years in cases 1 and 3. Sleepiness was induced by going out from the stable in adulthood. A physostigmine test was performed in all three affected horses and produced positive results in cases 1 and 3. The result of the test in case 2 was unclear due to the almost continuous sleepiness of the foal. Hypocretin-1 co...
Structural and oxygen binding properties of dimeric horse myoglobin.
Dalton transactions (Cambridge, England : 2003)    August 13, 2012   Volume 41, Issue 37 11378-11385 doi: 10.1039/c2dt30893b
Nagao S, Osuka H, Yamada T, Uni T, Shomura Y, Imai K, Higuchi Y, Hirota S.Myoglobin (Mb) stores dioxygen in muscles, and is a fundamental model protein widely used in molecular design. The presence of dimeric Mb has been known for more than forty years, but its structural and oxygen binding properties remain unknown. From an X-ray crystallographic analysis at 1.05 Å resolution, we found that dimeric metMb exhibits a domain-swapped structure with two extended α-helices. Each new long α-helix is formed by the E and F helices and the EF-loop of the original monomer, and as a result the proximal and distal histidines of the heme originate from different protomers. Th...
Analysis of several factors of variation of gestation loss in breeding mares.
Animal : an international journal of animal bioscience    August 9, 2012   Volume 6, Issue 12 1925-1930 doi: 10.1017/S1751731112001164
Langlois B, Blouin C, Chaffaux S.The files for ultrasound diagnosis of gestating mares belonging to the French equine herd recorded for 3 consecutive years were joined with the files for foal birth of these same mares, allowing the statistical analysis of factors of pregnancy loss. For 28 872 positive diagnoses of gestation, 2898 losses were recorded, that is, a global rate of gestation interruption of 9.12%. The etiology of these interruptions is mainly extrinsic: the year and month of insemination, as well as region for climatic reasons. The intrinsic causes that are implicated are breed of the father (heavy breeds except t...
The role of equine herpesvirus type 4 glycoprotein k in virus replication.
Viruses    August 7, 2012   Volume 4, Issue 8 1258-1263 doi: 10.3390/v4081258
Azab W, El-Sheikh A.Equine herpesvirus 4 (EHV-4) is an important equine pathogen that causes respiratory tract disease among horses worldwide. Glycoprotein K (gK) homologues have been identified in several alphaherpesviruses as a major player in virus entry, replication, and spread. In the present study, EHV-4 gK-deletion mutant has been generated by using bacterial artificial chromosome technology and Red mutagenesis to investigate the role of gK in EHV-4 replication. Our findings reported here show that gK is essential for virus replication in vitro and that the gK-negative strain was not able to be reconstitut...
Rhodococcus equi’s extreme resistance to hydrogen peroxide is mainly conferred by one of its four catalase genes.
PloS one    August 6, 2012   Volume 7, Issue 8 e42396 doi: 10.1371/journal.pone.0042396
Bidaud P, Hébert L, Barbey C, Appourchaux AC, Torelli R, Sanguinetti M, Laugier C, Petry S.Rhodococcus equi is one of the most widespread causes of disease in foals aged from 1 to 6 months. R. equi possesses antioxidant defense mechanisms to protect it from reactive oxygen metabolites such as hydrogen peroxide (H(2)O(2)) generated during the respiratory burst of phagocytic cells. These defense mechanisms include enzymes such as catalase, which detoxify hydrogen peroxide. Recently, an analysis of the R. equi 103 genome sequence revealed the presence of four potential catalase genes. We first constructed ΔkatA-, ΔkatB-, ΔkatC-and ΔkatD-deficient mutants to study the ability of R. ...
Characterisation of retroviruses in the horse genome and their transcriptional activity via transcriptome sequencing.
Virology    August 4, 2012   Volume 433, Issue 1 55-63 doi: 10.1016/j.virol.2012.07.010
Brown K, Moreton J, Malla S, Aboobaker AA, Emes RD, Tarlinton RE.The recently released draft horse genome is incompletely characterised in terms of its repetitive element profile. This paper presents characterisation of the endogenous retrovirus (ERVs) of the horse genome based on a data-mining strategy using murine leukaemia virus proteins as queries. 978 ERV gene sequences were identified. Sequences were identified from the gamma, epsilon and betaretrovirus genera. At least one full length gammaretroviral locus was identified, though the gammaretroviral sequences are very degenerate. Using these data the RNA expression of these ERVs were derived from RNA ...
Effects of age and R848 stimulation on expression of Toll-like receptor 8 mRNA by foal neutrophils.
Veterinary immunology and immunopathology    August 4, 2012   Volume 150, Issue 1-2 10-18 doi: 10.1016/j.vetimm.2012.07.012
Harrington JR, Wilkerson CP, Brake CN, Cohen ND.The innate immune system plays a critical role in protecting neonates against infections early in life and Toll-like receptors (TLRs) are key components of innate immune recognition of pathogens. This study examined the effects of age and stimulation with a TLR 7/8 agonist (R848) on TLR8 mRNA expression by foal neutrophils during the first month of life. We also examined the effects of R848 stimulation on mRNA expression of interleukin (IL)-6 and IL-8 at 1 and 14 days of life. We observed that TLR8 mRNA was constitutively expressed (P<0.05) at all ages examined, and its expression did not c...
Genetic diversity of equine gammaherpesviruses (γ-EHV) and isolation of a syncytium forming EHV-2 strain from a horse in Iceland.
Research in veterinary science    August 3, 2012   Volume 94, Issue 1 170-177 doi: 10.1016/j.rvsc.2012.07.011
Thorsteinsdóttir L, Torfason EG, Torsteinsdóttir S, Svansson V.The horse population in Iceland is a special breed, isolated from other equines for at least one thousand years. This provides an exceptional opportunity to investigate old and new pathogens in a genetically closed herd. Both types of equine gammaherpesviruses, EHV-2 and EHV-5, are common in Iceland. Genetic variation was examined by sequencing four genes, glycoprotein B (gB), glycoprotein H (gH), DNA polymerase and DNA terminase for 12 Icelandic and seven foreign EHV-2 strains. One Icelandic virus isolate, gEHV-Dv, induced syncytium formation, an uncharacteristic cytopathy for EHV-2 in equine...
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses.
BMC genomics    August 2, 2012   Volume 13 365 doi: 10.1186/1471-2164-13-365
Sundström E, Imsland F, Mikko S, Wade C, Sigurdsson S, Pielberg GR, Golovko A, Curik I, Seltenhammer MH, Sölkner J, Lindblad-Toh K, Andersson L.Greying with age in horses is an autosomal dominant trait, associated with loss of hair pigmentation, melanoma and vitiligo-like depigmentation. We recently identified a 4.6 kb duplication in STX17 to be associated with the phenotype. The aims of this study were to investigate if the duplication in Grey horses shows copy number variation and to exclude that any other polymorphism is uniquely associated with the Grey mutation. Results: We found little evidence for copy number expansion of the duplicated sequence in blood DNA from Grey horses. In contrast, clear evidence for copy number expansio...
T-cell tolerance to the developing equine conceptus.
Reproduction in domestic animals = Zuchthygiene    August 1, 2012   Volume 47 Suppl 4 376-383 doi: 10.1111/j.1439-0531.2012.02101.x
Antczak DF.One of the most intriguing and dramatic examples of immunological tolerance is displayed by the mammalian foetal-placental unit, which thrives as a semi-allograft in the mother's uterus during pregnancy. The success of the so-called foetal allograft stands in stark contrast to the failure of most tissue and organ grafts to survive without genetic matching of donor and recipient or drastic immunosuppression of the recipient's immune system. Experiments conducted over the past 60 years have revealed multiple mechanisms that enable the conceptus to avoid immunological detection or destruction. Ma...
Horses for courses: a DNA-based test for race distance aptitude in thoroughbred racehorses.
Recent patents on DNA & gene sequences    August 1, 2012   Volume 6, Issue 3 203-208 doi: 10.2174/187221512802717277
Hill EW, Ryan DP, MacHugh DE.Variation at the myostatin (MSTN) gene locus has been shown to influence racing phenotypes in Thoroughbred horses, and in particular, early skeletal muscle development and the aptitude for racing at short distances. Specifically, a single nucleotide polymorphism (SNP) in the first intron of MSTN (g.66493737C/T) is highly predictive of best race distance among Flat racing Thoroughbreds: homozygous C/C horses are best suited to short distance races, heterozygous C/T horses are best suited to middle distance races, and homozygous T/T horses are best suited to longer distance races. Patent applica...
The emerging pathophysiology of age-related testicular degeneration with a focus on the stallion and an update on potential therapies.
Reproduction in domestic animals = Zuchthygiene    August 1, 2012   Volume 47 Suppl 4 178-186 doi: 10.1111/j.1439-0531.2012.02073.x
Turner RM, Zeng W.Studies in laboratory rodents are shedding light on the pathophysiology of testicular ageing and now suggest a complicated basis for age-related declines in testicular function. A highly significant contributor to infertility may involve failure of specific and complex testicular microenvironments (niches) comprised of a variety of cellular and molecular components. Our laboratory has applied testis tissue xenografting to the study of testicular ageing in the stallion. Using this technique, we have confirmed that the disease is tissue autologous. As would be expected from a tissue autologous d...