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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.
An investigation of colour discrimination with horses (Equus caballus). The ability of four horses (Equus caballus) to discriminate coloured (three shades of blue, green, red, and yellow) from grey (neutral density) stimuli, produced by back projected lighting filters, was investigated in a two response forced-choice procedure. Pushes of the lever in front of a coloured screen were occasionally reinforced, pushes of the lever in front of a grey screen were never reinforced. Each colour shade was randomly paired with a grey that was brighter, one that was dimmer, and one that approximately matched the colour in terms of brightness. Each horse experienced the colour...
Osteogenic gene regulation and relative acceleration of healing by adenoviral-mediated transfer of human BMP-2 or -6 in equine osteotomy and ostectomy models. This study evaluated healing of equine metatarsal osteotomies and ostectomies in response to percutaneous injection of adenoviral (Ad) bone morphogenetic protein (BMP)-2, Ad-BMP-6, or beta-galactosidase protein vector control (Ad-LacZ) administered 14 days after surgery. Radiographic and quantitative computed tomographic assessment of bone formation indicated greater and earlier mineralized callus in both the osteotomies and ostectomies of the metatarsi injected with Ad-BMP-2 or Ad-BMP-6. Peak torque to failure and torsional stiffness were greater in osteotomies treated with Ad-BMP-2 than Ad-B...
Characterization of a novel, testis-specific equine serine/threonine kinase. Testis-specific protein kinases are important because of their potential role in spermiogenesis, sperm maturation, and sperm function. In the present study, a novel serine-threonine kinase with high identity to human serine-threonine kinase 31 (STK31) was cloned from equine testis and expression of the protein was characterized in equine testis and ejaculated spermatozoa. Five over-lapping independent clones were plaque purified after screening of a lambda ZAP cDNA expression library constructed from equine testis. Sequence analysis and alignment of all five clones showed high identity with hu...
Prevalence and body distribution of sarcoids in South African Cape mountain zebra (Equus zebra zebra). There are no reports in the literature describing any tumours, and specifically sarcoids, in zebras. The equine sarcoid, a locally aggressive, fibroblastic skin tumour, is the most common dermatological neoplasm reported in horses. The Cape mountain zebra (CMZ) has been described as one of the most vulnerable mammals in South Africa with current populations existing in isolated units. All South African CMZ are descendants from no more than 30 individual animals originating from 3 populations, namely the Mountain Zebra National Park, and Kammanassie and Gamka Mountain Nature Reserves near Crado...
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Tobiano is a white spotting pattern in horses caused by a dominant gene, Tobiano(TO). Here, we report TO associated with a large paracentric chromosome inversion on horse chromosome 3. DNA sequences flanking the inversion were identified and a PCR test was developed to detect the inversion. The inversion was only found in horses with the tobiano pattern, including horses with diverse genetic backgrounds, which indicated a common genetic origin thousands of years ago. The inversion does not interrupt any annotated genes, but begins approximately 100 kb downstream of the KIT gene. This inversion...
A defined medium supports changes consistent with capacitation in stallion sperm, as evidenced by increases in protein tyrosine phosphorylation and high rates of acrosomal exocytosis. Efficient in vitro capacitation of stallion sperm has not yet been achieved, as suggested by low sperm penetration rates reported in in vitro fertilization (IVF) studies. Our objectives were to evaluate defined incubation conditions that would support changes consistent with capacitation in stallion sperm. Protein tyrosine phosphorylation events and the ability of sperm to undergo acrosomal exocytosis under various incubation conditions were used as end points for capacitation. Sperm incubated 4-6h in modified Whitten's (MW) with the addition of 25 mM NaHCO3 and 7 mg/mL BSA (capacitating mediu...
Follicle diameters and hormone concentrations in the development of single versus double ovulations in mares. Relationships between double ovulations and plasma hormone concentrations were compared between 18 single ovulating and 6 double ovulating mares. The study began when the first follicle reached >or=30 mm, and ultrasound scanning and blood sampling were done every 12h to Day 3 (ovulation=Day 0). Data were analyzed for 2.5 d after the largest follicle was >or=30 mm and after Day -2.5 to encompass the mean 5-d interval between a >or=30 mm follicle and Day 0. During the 2.5 d after >or=30 mm, the increasing diameter of the largest follicle was less pronounced and plasma FSH concentrati...
Equine CTNNB1 and PECAM1 nucleotide structure and expression analyses in an experimental model of normal and pathological wound repair. Wound healing in horses is fraught with complications. Specifically, wounds on horse limbs often develop exuberant granulation tissue which behaves clinically like a benign tumor and resembles the human keloid in that the evolving scar is trapped in the proliferative phase of repair, leading to fibrosis. Clues gained from the study of over-scarring in horses should eventually lead to new insights into how to prevent unwanted scar formation in humans. cDNA fragments corresponding to CTNNB1 (coding for beta-catenin) and PECAM1, genes potentially contributing to the proliferative phase of repair,...
Associations between candidate gene markers at a quantitative trait locus on equine chromosome 4 responsible for osteochondrosis dissecans in fetlock joints of South German Coldblood horses. A previously accomplished whole-genome scan for osteochondrosis (OC) and OC dissecans (OCD) in South German Coldblood horses using 250 microsatellite markers identified putative quantitative trait loci (QTL). A chromosome-wide significant QTL for fetlock OCD was found on Equus caballus chromosome (ECA) 4q at a relative position of 70.0-73.3 cM. The aim of this study was to analyze associations of single nucleotide polymorphisms (SNPs) in candidate genes for OC in this region. The association analysis included 32 affected and 64 unaffected horses. Three SNPs located in intron 8, intron 9, and 3...
Expression and localization of the mu-opioid receptor (MOR) in the equine cumulus-oocyte complex and its involvement in the seasonal regulation of oocyte meiotic competence. The micro-opioid receptor (MOR) was identified in equine oocytes, cumulus and granulosa cells. By RT-PCR, a 441bp fragment was observed. By immunoblotting, a 65 kDa band was detected in samples of winter anestrous whereas in cells recovered in breeding season, two bands, 65 and 50 kDa, were found. The 65 kDa band was significantly more intense in winter anestrous specimens. In samples recovered in the breeding season, this band significantly decreased with the raise of follicle size and was heavier in compact oocytes and cumulus cells. The protein was localized on the oolemma and within the cy...
Male infanticide and paternity analyses in a socially natural herd of Przewalski’s horses: sexual selection? The sexual selection hypothesis explains infanticide by males in many mammals. In our 11-year study, we investigated this hypothesis in a herd of Przewalski's horses where we had witnessed infanticidal attacks. Infanticide was highly conditional and not simply linked to takeovers. Attacks occurred in only five of 39 cases following a takeover, and DNA paternity revealed that, although infanticidal stallions were not the genetic fathers in four cases out of five, stallions present at birth did not significantly attempt to kill unrelated foals. Infanticide did not reduce birth intervals; only in...
Establishment and characterization of equine fibroblast cell lines transformed in vivo and in vitro by BPV-1: model systems for equine sarcoids. It is now widely recognized that BPV-1 and less commonly BPV-2 are the causative agents of equine sarcoids. Here we present the generation of equine cell lines harboring BPV-1 genomes and expressing viral genes. These lines have been either explanted from sarcoid biopsies or generated in vitro by transfection of primary fibroblasts with BPV-1 DNA. Previously detected BPV-1 genome variations in equine sarcoids are also found in sarcoid cell lines, and only variant BPV-1 genomes can transform equine cells. These equine cell lines are morphologically transformed, proliferate faster than parental ...
Ventral meningomyelocele in a German warmblood foal. A ventral meningomyelocele was found in a five week old, male German warmblood foal which exhibited central nervous symptoms. This rare malformation in horses may be caused by absent or defective fusion of vertebral bodies leading to herniation of the spinal cord and meninges with subsequent degenerative alterations of the spinal cord.
Lymphangiosarcoma in the nictitating membrane of a horse. A 15-year-old Haflinger gelding presented with a mass in the left nictitating membrane. Two biopsies and the excised nictitating membrane were taken at different time points as a result of reoccurrence of the mass and submitted for histopathologic evaluation. The horse was euthanized as a result of poor prognosis following the reoccurrence of the mass after surgical removal. Histologically, the mass consisted of dilated, thin-walled vascular clefts and channels, lined by flattened to cuboidal endothelial cells with moderate cellular pleomorphism. There was up to 1 mitotic figure per high power...
Equine laminitis: membrane type matrix metalloproteinase-1 (MMP-14) is involved in acute phase onset. Enzymatic separation at the hoof lamellar dermal-epidermal interface may play a role in the development of laminitis and characterising and locating matrix metalloproteinases (MMPs) and their inhibitors (tissue inhibitors of MMPs or TIMPs) in lamellar tissues may further understanding of pathogenesis. Objective: To clone and sequence the cDNA encoding lamellar MMP-14 and TIMP-2, and quantify their transcription in normal and laminitic tissue; and to develop antibody to locate MMP-14 in lamellar tissues. Methods: Tissue samples were obtained from an oligofructose induced model of laminitis. Tot...
Streptococcus henryi sp. nov. and Streptococcus caballi sp. nov., isolated from the hindgut of horses with oligofructose-induced laminitis. Four Gram-positive, catalase-negative, coccoid-shaped isolates were obtained from the caecum and rectum of horses with oligofructose-induced equine laminitis. Phenotypic and phylogenetic studies were performed on these isolates. Initial biochemical profiling assigned two of the isolates to Streptococcus bovis. The other two isolates, however, could not be assigned conclusively on the basis of their biochemical profiles. Gene sequence analysis demonstrated that the four new isolates were related most closely to Streptococcus suis based on the 16S rRNA gene and to Streptococcus orisratti based o...
Molecular cloning and characterization of the alphaX subunit from CD11c/CD18 horse integrin. This work reports the cloning and sequence determination of the horse alpha subunit of the integrin CD11c/CD18, a marker of dendritic cells. A cDNA clone of 4582 base pairs was obtained. It encodes a protein segment of 1086 amino acid residues of the extracellular domain with 10 potential sites of glycosylation, a transmembrane domain of 32 residues and a C-terminal cytoplasmic tail of 24 residues. A phylogenetic analysis of this integrin shows close similarity (83%) with that of Canis familiaris.
Bayesian prediction of breeding values for multivariate binary and continuous traits in simulated horse populations using threshold-linear models with Gibbs sampling. Simulated data were used to determine the properties of multivariate prediction of breeding values for categorical and continuous traits using phenotypic, molecular genetic and pedigree information by mixed linear-threshold animal models via Gibbs sampling. Simulation parameters were chosen such that the data resembled situations encountered in Warmblood horse populations. Genetic evaluation was performed in the context of the radiographic findings in the equine limbs. The simulated pedigree comprised seven generations and 40 000 animals per generation. The simulated data included additive gen...
Breeding racehorses: what price good genes? Horse racing is a multi-million pound industry, in which genetic information is increasingly used to optimize breeding programmes. To maximize the probability of producing a successful offspring, the owner of a mare should mate her with a high-quality stallion. However, stallions with big reputations command higher stud fees and paying these is only a sensible strategy if, (i) there is a genetic variation for success on the racecourse and (ii) stud fees are an honest signal of a stallion's genetic quality. Using data on thoroughbred racehorses, and lifetime earnings from prize money (LE) as a ...
Liposome-mediated uptake of exogenous DNA by equine spermatozoa and applications in sperm-mediated gene transfer. Sperm-mediated gene transfer has been reported as a method for production of transgenic animals in a variety of species, and this technique represents a possible method for production of transgenic equids. Objective: To evaluate the uptake of exogenous DNA (enhanced green fluorescent protein; pEGFP) by equine spermatozoa and to assess the ability of transfected spermatozoa to introduce this transgene into early equine embryos. Methods: To evaluate incorporation of pEGFP into equine spermatozoa, washed spermatozoa were incubated with 32P-pEGFP, with or without lipofection. Spermatozoa were also...
Role of Sertoli cell number and function on regulation of spermatogenesis. Testicular function is under the control of expression and repression of several genes and gene products, and many of these works through Sertoli cells. The capability of Sertoli cells to regulate spermatogenesis is dependent on Sertoli cell functions and Sertoli cell number. Sertoli cell number has long been thought to be stable in adults with no proliferation of Sertoli cells once adult numbers have been reached. However, adult horses do not have stable Sertoli cell numbers, and new studies indicate that adult Sertoli cells can be made to re-enter mitotic phase under certain experimental con...
Review of genetic aspects of radiological alterations in the navicular bone of the horse. Navicular disease or podotrochlosis has long been known to cause forelimb lameness in horses. It had been proposed that the development of podotrochlosis has similarities to the human osteoarthritis (OA) complex. Alterations of the navicular bone can be made visible early in life only on the basis of radiographs. Reports on the prevalences of navicular disease indicate that radiological alterations in the navicular bone are present in different warmblood populations at frequencies of between 14.9% and 87.6%. Genetic factors play an important role in the development of the radiological signs. E...
Caspase-3-mediated apoptosis and cell proliferation in the equine endometrium during the oestrous cycle. Cell proliferation and apoptosis are hormone-dependent physiological processes involved in endometrial growth and regression. The aims of the present study were: (1) to evaluate endometrial cell proliferation using proliferating cell nuclear antigen (PCNA) expression; (2) to evaluate the induction of endometrial cell death by the expression of active caspase-3 and the apoptotic phenotype visualised by DNA fragmentation; and (3) to relate these observations to endometrial tissue dynamics in the equine endometrium throughout the oestrous cycle. Endometria were assigned to follicular and luteal p...
The RSPO genes: chromosomal assignment in horse by FISH. This research aims to pinpoint the chromosomal location of R-spondin (RSPO) genes in horses. The R-spondin genes are known to be critical in vertebrate development, with mutations leading to significant […]
Influence of breed and oestrous cycle on endometrial gland surface density in the mare. The diffuse noninvasive epitheliochorial equine placenta develops an intimate and complex interdigitation with the maternal endometrium throughout gestation to maximise surface contact and, consequently, optimise nutritional and gaseous maternofetal exchanges. A significant reduction occurs in the surface density of microcotyledons on the placentae of Welsh Pony vs. Thoroughbred mares that may relate to a difference in either the number or density of endometrial glands between these breeds. Objective: To examine this hypothesis and to determine the influence of the oestrous cycle upon the deve...
Construction of a recombinant plasmid as reaction control in routine PCR for detection of contagious equine metritis (CEM-PCR). Contagious equine metritis (CEM) is a highly contagious bacterial venereal disease of horses caused by Taylorella equigenitalis. CEM-PCR is a semi-nested PCR method for detecting this bacterium. Although this technique is regarded as a sensitive diagnostic method for CEM, there are risks of it generating false positive and false negative results. In this study, we constructed a recombinant plasmid (CEM-POS) as reaction control to assure adequate PCR reaction and prevent false positive results caused by contamination of the reaction control in routine CEM-PCR examinations. CEM-POS was construct...
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions. Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC). Mutations of the protein kinase A regulatory subunit type 1alpha (R1alpha) (coded by the PRKAR1A gene) are found in more than half of CNC patients. In this study, we investigated whether PEM and EBN are related at the molecular level, and whether changes in the PRKAR1A gene status and the expression of the R1alpha protein may be involved in th...
