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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.
A genome wide study of genetic adaptation to high altitude in feral Andean Horses of the páramo.
BMC evolutionary biology    December 17, 2013   Volume 13 273 doi: 10.1186/1471-2148-13-273
Hendrickson SL.Life at high altitude results in physiological and metabolic challenges that put strong evolutionary pressure on performance due to oxidative stress, UV radiation and other factors dependent on the natural history of the species. To look for genes involved in altitude adaptation in a large herbivore, this study explored genome differentiation between a feral population of Andean horses introduced by the Spanish in the 1500s to the high Andes and their Iberian breed relatives. Results: Using allelic genetic models and Fst analyses of ~50 K single nucleotide polymorphisms (SNPs) across the horse...
Cutaneous leishmaniosis in a horse from northern Portugal.
Veterinary parasitology    December 14, 2013   Volume 200, Issue 1-2 189-192 doi: 10.1016/j.vetpar.2013.12.005
Gama A, Elias J, Ribeiro AJ, Alegria N, Schallig HD, Silva F, Santarém N, Cardoso L, Cotovio M.The first case of cutaneous leishmaniosis in a horse from the north of Portugal, with a 1.5 cm in diameter ulcerated nodular lesion on the left face, is reported. The skin nodule was surgically excised and assessed by histopathology, including an immunohistochemistry method applied for the first time to equine tissues which clearly demonstrated leishmanial amastigote forms. Two serological determinations with the direct agglutination test performed 13 months apart showed seroconversion specific for Leishmania from a <25 to a 200 antibody titre. Polymerase chain reaction followed by kinetopl...
Scopolamine in racing horses: trace identifications associated with dietary or environmental exposure.
Veterinary journal (London, England : 1997)    December 14, 2013   Volume 199, Issue 3 324-331 doi: 10.1016/j.tvjl.2013.12.013
Brewer K, Dirikolu L, Hughes CG, Tobin T.Scopolamine (L-hyoscine) identifications, often in small-number clusters, have been reported worldwide in performance horses over the last 30 years. Scopolamine is an Association of Racing Commissioners International (ARCI) class 3, penalty class B, substance with potential to affect performance. As such, scopolamine identification(s) in race or performance horses can result in significant penalties for the connections of the horse(s). Reviewed here is the worldwide distribution of scopolamine containing plants (primarily Datura spp.), with estimates of their potential toxicity to horses throu...
Postoperative Clostridium difficile infection with PCR ribotype 078 strain identified at necropsy in five Thoroughbred racehorses.
The Veterinary record    December 13, 2013   Volume 173, Issue 24 607 doi: 10.1136/vr.101960
Niwa H, Kato H, Hobo S, Kinoshita Y, Ueno T, Katayama Y, Hariu K, Oku K, Senoh M, Kuroda T, Nakai K.Clostridium difficile is an important cause of acute enterocolitis in horses. We describe five cases of C difficile infection occurring postoperatively in Thoroughbred racehorses. Following diarrhoea or colic accompanied by a marked increase in packed cell volume (to ≥60 per cent) and leucopenia (≤4000 cells/μl) within two to four days after surgery in all five horses, four of them died or were euthanased because of colitis or severe diarrhoea. In these four horses, necrotising entero-typhlo-colitis was revealed by postmortem examination, and C difficile was recovered from the contents of...
Distribution of MLH1 foci in horse male synaptonemal complex.
Cytogenetic and genome research    December 12, 2013   Volume 142, Issue 2 87-94 doi: 10.1159/000357152
Al-Jaru A, Goodwin W, Skidmore J, Khazanehdari K.Advances in molecular cytogenetics have provided the opportunity to study events during prophase I of meiosis. Immunofluorescent localization of different meiotic protein components were used to characterize the early stages of the first meiotic division in horse spermatocytes. The frequency and distribution of recombination events during prophase I were investigated using the mutL homolog 1 (MLH1) protein that is known to be associated with these events. The frequency and distribution of MLH1 foci were investigated in pachytene nuclei of 6 fertile stallions, and the average relative synaptone...
Detection of papillomavirus in equine periocular and penile squamous cell carcinoma. Newkirk KM, Hendrix DV, Anis EA, Rohrbach BW, Ehrhart EJ, Lyons JA, Kania SA.Squamous cell carcinoma (SCC) is the most common tumor arising in the periocular and penile areas of horses. Both ultraviolet radiation and papillomaviruses have been implicated in the pathogenesis of SCC in various species, including the horse. This retrospective study used polymerase chain reaction (PCR) to detect papillomavirus DNA in archival biopsy samples from equine periocular and penile SCC from 3 different geographic areas (northeast, southeast, and central United States). Forty-two periocular SCCs were tested; none contained papillomavirus DNA. Twenty-two penile SCCs were tested, and...
Body mass evolution and diversification within horses (family Equidae).
Ecology letters    December 5, 2013   Volume 17, Issue 2 211-220 doi: 10.1111/ele.12221
Shoemaker L, Clauset A.Horses (family Equidae) are a classic example of adaptive radiation, exhibiting a nearly 60-fold increase in maximum body mass and a peak taxonomic diversity of nearly 100 species across four continents. Such patterns are commonly attributed to niche competition, in which increased taxonomic diversity drives increased size disparity. However, neutral processes, such as macroevolutionary 'diffusion', can produce similar increases in disparity without increased diversity. Using a comprehensive database of Equidae species size estimates and a common mathematical framework, we measure the contribu...
Experimental infection with equine herpesvirus type 1 (EHV-1) induces chorioretinal lesions.
Veterinary research    December 5, 2013   Volume 44, Issue 1 118 doi: 10.1186/1297-9716-44-118
Hussey GS, Goehring LS, Lunn DP, Hussey SB, Huang T, Osterrieder N, Powell C, Hand J, Holz C, Slater J.Equine herpesvirus myeloencephalitis (EHM) remains one of the most devastating manifestations of equine herpesvirus type 1 (EHV-1) infection but our understanding of its pathogenesis remains rudimentary, partly because of a lack of adequate experimental models. EHV-1 infection of the ocular vasculature may offer an alternative model as EHV-1-induced chorioretinopathy appears to occur in a significant number of horses, and the pathogenesis of EHM and ocular EHV-1 may be similar. To investigate the potential of ocular EHV-1 as a model for EHM, and to determine the frequency of ocular EHV-1, our ...
Horses (Equus caballus) discriminate body odour cues from conspecifics.
Animal cognition    December 5, 2013   Volume 17, Issue 4 1007-1011 doi: 10.1007/s10071-013-0717-9
Péron F, Ward R, Burman O.Knowledge about social recognition and memory in animals can help us to determine appropriate management and husbandry techniques. In this study, we used a habituation-discrimination procedure to investigate the ability of horses (Equus caballus) to distinguish between the body odour samples of unfamiliar conspecifics. To pick up body odour, we rubbed material on the coat of horses and presented these unknown body odours to 16 different conspecifics of the same sex and similar age. The test consisted of two successive two-min presentations of a sample from one individual (e.g. individual 'A') ...
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
PloS one    December 4, 2013   Volume 8, Issue 12 e81625 doi: 10.1371/journal.pone.0081625
Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero. We observed a family of horses, in which several mares developed signs of a skin disorder reminiscent of human IP. Cutaneous manifestations in affected horses includ...
Motion camouflage induced by zebra stripes.
Zoology (Jena, Germany)    December 4, 2013   Volume 117, Issue 3 163-170 doi: 10.1016/j.zool.2013.10.004
How MJ, Zanker JM.The functional significance of the zebra coat stripe pattern is one of the oldest questions in evolutionary biology, having troubled scientists ever since Charles Darwin and Alfred Russel Wallace first disagreed on the subject. While different theories have been put forward to address this question, the idea that the stripes act to confuse or 'dazzle' observers remains one of the most plausible. However, the specific mechanisms by which this may operate have not been investigated in detail. In this paper, we investigate how motion of the zebra's high contrast stripes creates visual effects tha...
Molecular monitoring of the bacterial community structure in foal feces pre- and post-weaning.
Anaerobe    December 4, 2013   Volume 25 61-66 doi: 10.1016/j.anaerobe.2013.11.010
Faubladier C, Sadet-Bourgeteau S, Philippeau C, Jacotot E, Julliand V.This study assessed the time-scale variability of bacterial community structure in foal feces from birth to 365 days of age using Automated Ribosomal Intergenic Spacer Analysis (ARISA). Fecal samples were collected from five foals 2 h after birth (meconium) and in the morning at days 1, 2, 5, 10, 30, 60, 120, 179, 183, 194 and 365. The ARISA profiles were compared using an analysis of similarity (ANOSIM). Although both the age effect and the foal effect were highly significant (P < 0.010), the R-ANOSIM value for the foal effect was very low (R-ANOSIM = 0.089), while that of the age eff...
Effect of potential oocyte transport protocols on blastocyst rates after intracytoplasmic sperm injection in the horse.
Equine veterinary journal. Supplement    December 1, 2013   Issue 45 39-43 doi: 10.1111/evj.12159
Foss R, Ortis H, Hinrichs K.Intracytoplasmic sperm injection (ICSI) is used to produce foals from otherwise infertile mares and from stallions with limited sperm stores, but requires expensive equipment and is technically demanding. Methods to transport oocytes to ICSI laboratories would allow collection of oocytes by the referring veterinarian and enable greater application of this technique. Objective: This study was conducted to evaluate protocols that could be used to transport immature and maturing oocytes for ICSI. Methods: In vitro experiment. Methods: Oocytes were recovered by transvaginal ultrasound-guided folli...
The effect of environmental factors on sister chromatid exchange incidence in domestic horse (Equus caballus) chromosomes.
Folia biologica    November 28, 2013   Volume 61, Issue 3-4 199-204 doi: 10.3409/fb61_3-4.199
Wójcik E, Smalec E.The SCE test is often used as a sensitive and reliable technique in the biomonitoring of genotoxicity of mutagenic and carcinogenic agents. This study analysed the frequency of sister chromatid exchange in domestic horse chromosomes depending on the habitat and age of the analysed horses. The chromosome preparations were obtained from an in vitro culture of peripheral blood lymphocytes stained using the FPG technique. Both the habitat and the age significantly influence SCE frequency. A higher SCE incidence was observed in horses that lived in a large urban agglomeration than in those from the...
Molecular characterization and evolutionary analysis of horse BAFF-R, a tumor necrosis factor receptor related to B-cell survival.
International immunopharmacology    November 28, 2013   Volume 18, Issue 1 163-168 doi: 10.1016/j.intimp.2013.11.019
Wu H, Chen S, Liu M, Xu X, Ji X, Gao K, Tian A, Ke Z, Zhang J, Zhao B, Zhang S.B-cell survival depends on signals induced by B-cell activating factor (BAFF) that binds to the BAFF receptor (BAFF-R). Herein, a BAFF-R homolog was identified in a horse (Equus caballus). The horse BAFF-R gene, located on chromosome 28, spans 1444 base pairs and encodes a 183-amino acid protein. The protein is structurally conserved, in which the DxL motif plays an important role in binding to BAFF. Furthermore, the horse BAFF-R extracellular domain was expressed and purified, which specifically bound to His6-sBAFF and had the capability of blocking the function of His6-sBAFF in vitro. Finall...
CatSper and the relationship of hyperactivated motility to intracellular calcium and pH kinetics in equine sperm.
Biology of reproduction    November 27, 2013   Volume 89, Issue 5 123 doi: 10.1095/biolreprod.113.111708
Loux SC, Crawford KR, Ing NH, González-Fernández L, Macías-García B, Love CC, Varner DD, Velez IC, Choi YH, Hinrichs K.In vitro fertilization does not occur readily in the horse. This may be related to failure of equine sperm to initiate hyperactivated motility, as treating with procaine to induce hyperactivation increases fertilization rates. In mice, hyperactivated motility requires a sperm-specific pH-gated calcium channel (CatSper); therefore, we investigated this channel in equine sperm. Motility was assessed by computer-assisted sperm motility analysis and changes in intracellular pH and calcium were assessed using fluorescent probes. Increasing intracellular pH induced a rise in intracellular calcium, w...
Heritable equine regional dermal asthenia.
The Veterinary clinics of North America. Equine practice    November 26, 2013   Volume 29, Issue 3 689-702 doi: 10.1016/j.cveq.2013.09.001
Rashmir-Raven A.Hereditary equine regional dermal asthenia is a form of Ehlers-Danlos syndrome, and has an autosomal recessive mode of inheritance. Affected horses are typically born normal and develop lesions within the first 2 years of life. The most common symptoms of the disease include stretchy, loose skin that feels doughy or mushy. More severely affected horses experience spontaneous skin sloughing and extensive lacerations, hematomas, and seromas from minor trauma. Affected horses have a higher than expected incidence of corneal ulcers. DNA testing can normal, establish carrier and affected status. Pa...
Sarcoids.
The Veterinary clinics of North America. Equine practice    November 26, 2013   Volume 29, Issue 3 657-671 doi: 10.1016/j.cveq.2013.09.002
Bergvall KE.Sarcoids are the most common skin tumors seen in horses worldwide. The pathogenesis of sarcoids is multifactorial, including an association with bovine papillomavirus types 1 and 2 and a genetic susceptibility to tumor development. Clinical manifestations vary and include occult, verrucous, nodular, fibroblastic, mixed, and malignant (malevolent) types. The tumor is nonmetastasizing but can become very aggressive locally. Multiple tumors are common. All clinical types can be present in the same horse. No treatment protocol is universally effective. The tumor has a high risk of recurrence. Recu...
Illumina sequencing of the V4 hypervariable region 16S rRNA gene reveals extensive changes in bacterial communities in the cecum following carbohydrate oral infusion and development of early-stage acute laminitis in the horse.
Veterinary microbiology    November 26, 2013   Volume 168, Issue 2-4 436-441 doi: 10.1016/j.vetmic.2013.11.017
Moreau MM, Eades SC, Reinemeyer CR, Fugaro MN, Onishi JC.In the equine carbohydrate overload model of acute laminitis, disease progression is associated with changes in bacteria found in the cecum. To date, research has focused on changes in specific Gram-positive bacteria in this portion of the intestinal tract. Metagenomic methods are now available making it possible to interrogate microbial communities using animal protocols that sufficiently power a study. In this study, the microbiota in cecal fluid collected from control, non-laminitic horses (n=8) and from horses with early-stage acute laminitis induced with either oligofructan (n=6) or corns...
Expression and activity of collagenases in the digital laminae of horses with carbohydrate overload-induced acute laminitis.
Journal of veterinary internal medicine    November 25, 2013   Volume 28, Issue 1 215-222 doi: 10.1111/jvim.12252
Wang L, Pawlak EA, Johnson PJ, Belknap JK, Alfandari D, Black SJ.Matrix metalloproteinases (MMP) are hypothesized to degrade structurally important components of the laminar extracellular matrix (ECM) in horses with laminitis. Objective: To compare levels of expression of stromelysin-1 (MMP-3), collagenases (MMP-1, -13), and membrane type-MMPs (MMP-14, -15, -16), and the distribution of their ECM substrates, in laminae of healthy horses and horses with carbohydrate overload laminitis. Methods: Twenty-five adult horses. Methods: Gene and protein expression were determined in extracts of laminae using real-time quantitative polymerase chain reaction and Weste...
MICs of 32 antimicrobial agents for Rhodococcus equi isolates of animal origin.
The Journal of antimicrobial chemotherapy    November 24, 2013   Volume 69, Issue 4 1045-1049 doi: 10.1093/jac/dkt460
Riesenberg A, Feßler AT, Erol E, Prenger-Berninghoff E, Stamm I, Böse R, Heusinger A, Klarmann D, Werckenthin C, Schwarz S.The aim of this study was to determine the MICs of 32 antimicrobial agents for 200 isolates of Rhodococcus equi of animal origin by applying a recently described broth microdilution protocol, and to investigate isolates with distinctly elevated rifampicin MICs for the genetic basis of rifampicin resistance. Methods: The study included 200 R. equi isolates, including 160 isolates from horses and 40 isolates from other animal sources, from the USA and Europe. MIC testing of 32 antimicrobial agents or combinations thereof followed a recently published protocol. A novel PCR protocol for the joint ...
Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes.
Neuromuscular disorders : NMD    November 23, 2013   Volume 24, Issue 3 250-258 doi: 10.1016/j.nmd.2013.11.009
Fernandez-Fuente M, Martin-Duque P, Vassaux G, Brown SC, Muntoni F, Terracciano CM, Piercy RJ.Several human and animal myopathies, such as malignant hyperthermia (MH), central core disease and equine recurrent exertional rhabdomyolysis (RER) are confirmed or thought to be associated with dysfunction of skeletal muscle calcium regulation. For some patients in whom the genetic cause is unknown, or when mutational analysis reveals genetic variants with unclear pathogenicity, defects are further studied through use of muscle histopathology and in vitro contraction tests, the latter in particular, when assessing responses to ryanodine receptor agonists, such as caffeine. However, since musc...
Differential virulence and pathogenesis of West Nile viruses.
Viruses    November 22, 2013   Volume 5, Issue 11 2856-2880 doi: 10.3390/v5112856
Donadieu E, Bahuon C, Lowenski S, Zientara S, Coulpier M, Lecollinet S.West Nile virus (WNV) is a neurotropic flavivirus that cycles between mosquitoes and birds but that can also infect humans, horses, and other vertebrate animals. In most humans, WNV infection remains subclinical. However, 20%-40% of those infected may develop WNV disease, with symptoms ranging from fever to meningoencephalitis. A large variety of WNV strains have been described worldwide. Based on their genetic differences, they have been classified into eight lineages; the pathogenic strains belong to lineages 1 and 2. Ten years ago, Beasley et al. (2002) found that dramatic differences exist...
Streptococcus zooepidemicus and Streptococcus equi evolution: the role of CRISPRs.
Biochemical Society transactions    November 22, 2013   Volume 41, Issue 6 1437-1443 doi: 10.1042/BST20130165
Waller AS, Robinson C.The host-restricted bacterium Streptococcus equi is the causative agent of equine strangles, the most frequently diagnosed infectious disease of horses worldwide. The disease is characterized by abscessation of the lymph nodes of the head and neck, leading to significant welfare and economic cost. S. equi is believed to have evolved from an ancestral strain of Streptococcus zooepidemicus, an opportunistic pathogen of horses and other animals. Comparison of the genome of S. equi strain 4047 with those of S. zooepidemicus identified examples of gene loss due to mutation and deletion, and gene ga...
The soluble form of the EIAV receptor encoded by an alternative splicing variant inhibits EIAV infection of target cells.
PloS one    November 22, 2013   Volume 8, Issue 11 e79299 doi: 10.1371/journal.pone.0079299
Lin YZ, Yang F, Zhang SQ, Sun LK, Wang XF, Du C, Zhou JH.Equine lentivirus receptor 1 (ELR1) has been identified as the sole receptor for equine infectious anemia virus (EIAV) and is a member of the tumor necrosis factor receptor (TNFR) superfamily. In addition to the previously described membrane-associated form of ELR1, two other major alternative splicing variant mRNAs were identified in equine monocyte-derived macrophages (eMDMs). One major spliced species (ELR1-IN) contained an insertion of 153 nt, which resulted in a premature stop codon situated 561 nt upstream of the predicted membrane spanning domain. The other major species (ELR1-DE) has a...
Clinical course of ophthalmic findings and potential influence factors of herpesvirus infections: 18 month follow-up of a closed herd of lipizzaners.
PloS one    November 20, 2013   Volume 8, Issue 11 e79888 doi: 10.1371/journal.pone.0079888
Rushton JO, Kolodziejek J, Tichy A, Nowotny N, Nell B.To date the influence of herpesviruses on the development of equine ocular diseases has not been clearly determined. Objective: The purpose of this study was to illustrate the course of equine ocular findings over a period of 18 months at 6 month intervals, in correlation with the results of herpesvirus detection. Methods: 266 Lipizzaners in 3 federal states of Austria underwent complete ophthalmologic examination 4 times. Blood samples, nasal- and conjunctival swabs were obtained at the same time and used for the detection of the equid gammaherpesviruses EHV-2 and EHV-5 using consensus herpes...
Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis.
Veterinary journal (London, England : 1997)    November 19, 2013   Volume 199, Issue 2 306-307 doi: 10.1016/j.tvjl.2013.11.008
Badial PR, Oliveira-Filho JP, Winand NJ, Borges AS.Hereditary equine regional dermal asthenia (HERDA) is a genetic disorder that occurs in the American Quarter horse (AQH) and is caused by a c.115G>A missense mutation in the peptidylprolyl isomerase B (PPIB) gene. Using a quantitative real-time PCR high resolution melting analysis genotyping assay for the PPIB mutation, the estimated HERDA allele and carrier frequencies in a sample of Brazilian AQHs were 2.9% and 5.8%, respectively.
Evidence of lateral gene transfer among strains of Streptococcus zooepidemicus in weanling horses with respiratory disease.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases    November 19, 2013   Volume 21 157-160 doi: 10.1016/j.meegid.2013.11.006
Velineni S, Breathnach CC, Timoney JF.Streptococcus zooepidemicus (Sz) is a tonsillar commensal of healthy horses but with potential to opportunistically invade the lower respiratory tract. Sz is genetically variable and recombinogenic based on analysis of gene sequences including szp, szm and MLST data. Although a variety of serovars of the protective SzP are commonly harbored in the tonsils of the same horse, lower respiratory infections usually involve a single clone. Nevertheless, isolation of specific clones from epizootics of respiratory disease has been recently reported in horses and dogs in N. America, Europe and Asia. In...
The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa.
Equine veterinary journal    November 18, 2013   Volume 46, Issue 4 512-514 doi: 10.1111/evj.12177
Tarr CJ, Thompson PN, Guthrie AJ, Harper CK.The carrier prevalence of severe combined immunodeficiency (SCID), lavender foal syndrome (LFS) and cerebellar abiotrophy (CA) in Arabian foals in South Africa was determined in order to quantify the potential impact of these conditions locally. Furthermore, the carrier prevalence of SCID prior to and following the introduction of a genetic test was compared to evaluate the effect of testing in the population. Objective: To estimate the carrier prevalence of SCID, LFS and CA in registered purebred Arabians born in South Africa in the 2004/5 and 2009/10 foaling seasons and compare the changes i...
Heritabilities and genetic correlations between fetlock, hock and stifle osteochondrosis and fetlock osteochondral fragments in Hanoverian Warmblood horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    November 18, 2013   Volume 131, Issue 1 71-81 doi: 10.1111/jbg.12062
Hilla D, Distl O.The main objective of this study is to estimate genetic parameters for osteochondrosis (OC) and osteochondrosis dissecans (OCD) in fetlock, hock and stifle joints as well as for palmar or plantar osteochondral fragments (POFs) and dorsodistal osteochondral fragments (DOFs) in fetlock joints. For this purpose, the results of a standardized radiographic examination of 7396 Hanoverian Warmblood horses were used. Heritabilities and genetic correlations were estimated using residual maximum likelihood (REML) under a linear animal model. Heritability estimates for OC at the different joints were at ...