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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.
Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid-coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum-likelihood chi-square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P < 0.05) and with total white markings (P &...
Expression of Toll-like receptors 2, 4 and 6 in equine endometrial epithelial cells: A comparative in situ and in vitro study. Endometrial epithelial cells form a luminal barrier and are exposed to pathogens and non-infectious antigens. Toll-like receptors (TLRs) mediate pathogen defenses and tissue homeostasis, but are also involved in the pathogenesis of inflammatory and fibrosing alterations. Endometrial diseases are important causes of subfertility in mares. The pathogenesis of some types of persistent inflammation and periglandular fibrosis (endometrosis) is unknown. The aim of this study was to compare by in situ and in vitro immunohistochemistry the expression of TLRs 2, 4 and 6 in equine endometrial epithelial...
A Point Mutation in a Herpesvirus Co-Determines Neuropathogenicity and Viral Shedding. A point mutation in the DNA polymerase gene in equine herpesvirus type 1 (EHV-1) is one determinant for the development of neurological disease in horses. Three recently conducted infection experiments using domestic horses and ponies failed to detect statistically significant differences in viral shedding between the neuropathogenic and non-neuropathogenic variants. These results were interpreted as suggesting the absence of a consistent selective advantage of the neuropathogenic variant and therefore appeared to be inconsistent with a systematic increase in the prevalence of neuropathogenic ...
[The importance of conservation of rare domestic animal breeds using the example of Arc Warder]. The domestic animals descend from various wild ancestors. Thus, for example, of the wolf, the dog (15 000 BC), of the Bezoar goat the goat (10 000 BC), of the Asian mouflon the sheep (10 000 BC), of the wild boar the pig (8000 BC) and of the aurochs the cattle (7000 BC). Domestication has dramatically changed our culture and led to a great diversity of animal breeds. This is a unique cultural and historical treasure, which we have to preserve for future generations. The zoological park Arc Warder is Europe's largest center for rare and endangered domestic animal breeds. Arc Ward...
Generation of Immortalized Equine Chondrocytes With Inducible Sox9 Expression Allows Control of Hypertrophic Differentiation. Immortalization of chondrocytes enables long term in vitro culture; however, the chondrogenic capacity of transformed cells varies, thus highlighting the need to develop a proliferative and tuneable chondrocyte cell line where hypertrophic differentiation can be controlled. In this study the SV40 large T antigen and human telomerase reverse transcriptase were employed to immortalize pooled equine chondrocytes through lentiviral vector mediated transduction either singly or on combination. Transformed chondrocytes proliferated stably over multiple passages, but resulted in significantly lower e...
[Historic treasures of Swiss horse breeding]. Both a mandate of the Bernese Government (1705) and statements in the Georgica Helvetica of 1706 prove that Swiss horse breeding was lucrative and of good quality at that time. However, the political turmoil at the transition from the 18th to 19th century and excessive sales to France and Italy led to a severe drop in quantity as well in quality. The exhibition of horses in Aarau in 1865 showed a wretched state of the material. In the same year, Rudolf Zangger wrote a guide for the discussion of horse breeding in Switzerland. In the following year (1866), Johann Jakob Rychner published a repor...
Genomes of Fasciola hepatica from the Americas Reveal Colonization with Neorickettsia Endobacteria Related to the Agents of Potomac Horse and Human Sennetsu Fevers. Food borne trematodes (FBTs) are an assemblage of platyhelminth parasites transmitted through the food chain, four of which are recognized as neglected tropical diseases (NTDs). Fascioliasis stands out among the other NTDs due to its broad and significant impact on both human and animal health, as Fasciola sp., are also considered major pathogens of domesticated ruminants. Here we present a reference genome sequence of the common liver fluke, Fasciola hepatica isolated from sheep, complementing previously reported isolate from cattle. A total of 14,642 genes were predicted from the 1.14 GB gen...
LPS-induced modules of co-expressed genes in equine peripheral blood mononuclear cells. Lipopolysaccharide (endotoxin, LPS) is a strong inducer of the innate immune response. It is widespread in our environment, e.g. in house dust and contributes to asthma. Compared to humans, horses are even more sensitive to LPS. However, data on LPS effects on the equine transcriptome are very limited. Using RNA-seq we analysed LPS-induced differences in the gene expression in equine peripheral blood mononuclear cells at the gene and gene-network level in two half-sib families and one group of unrelated horses. 24 h-LPS challenge of equine immune cells resulted in substantial changes in the t...
NetF-producing Clostridium perfringens: Clonality and plasmid pathogenicity loci analysis. Clostridium perfringens is an important cause of foal necrotizing enteritis and canine acute hemorrhagic diarrhea. A major virulence determinant of the strains associated with these diseases appears to be a beta-sheet pore-forming toxin, NetF, encoded within a pathogenicity locus (NetF locus) on a large tcp-conjugative plasmid. Strains producing NetF also produce the putative toxin NetE, encoded within the same pathogenicity locus, as well as CPE enterotoxin and CPB2 on a second plasmid, and sometimes the putative toxin NetG within a pathogenicity locus (NetG locus) on another separate large c...
Exercise induced upregulation of glutamate-cysteine ligase catalytic subunit and glutamate-cysteine ligase modifier subunit gene expression in Thoroughbred horses. This study was performed to reveal the molecular structure and expression patterns of horse glutamate-cysteine ligase catalytic subunit () and glutamate-cysteine ligase modifier subunit () genes whose products form glutamate cysteine ligase, which were identified as differentially expressed genes in the previous study. Methods: We performed bioinformatics analyses, and gene expression assay with quantitative polymerase chain reaction (qPCR) for horse and genes in muscle and blood leukocytes of Thoroughbred horses. Results: Expression of showed the same pattern in both blood and muscle tissu...
[Physiological Relationship of Erythrocyte Antigens with Indicators of Horse Spermiogram]. The possible presence of the physiological relationship of erythrocyte antigens of the A, C, D, K alleles of the blood group systems in the examined horses of the Ukrainian selection with the spermogram major parameters has been demonstrated. It has been found that when investigating ad/bcm and dg/cgm alleles of the blood group system D in the stallions, there was the physiological tendency of the decrease in the semen activity on average less than 5 points; at the presence of ad/cgm, ad/d, ad/ de, ad/dk, bcm/d, bcm/de, bcm/dg bcm/dk cegm/cgm, cegm/d, cegm/dg, cegm/dk cgm/ceg, cgm/cgm, cgm/dg,...
A journey through horse cloning. Interest in equine somatic cell nuclear transfer technology has increased significantly since the first equid clones were produced in 2003. This is demonstrated by the multiple commercial equine cloning companies having produced numerous cloned equids to date; worldwide, more than 370 cloned horses have been produced in at least six different countries. Equine cloning can be performed using several different approaches, each with different rates of success. In this review we cover the history and applications of equine cloning and summarise the major scientific advances in the development of t...
Genetic diversity of the Yonaguni horse based on polymorphisms in microsatellites and mitochondrial DNA. Thirty-two microsatellites and a mitochondrial DNA haplotypes of endangered Yonaguni horses were analyzed to establish a pedigree registration system and to understand their genetic diversity for planning effective conservation. Blood samples were collected from 78 of the 130 horses in existence, and DNA was extracted and genotyped. There were two major findings. One is that it is possible to use microsatellites for Yonaguni horse pedigree registration in the future because the power of exclusion of parentage testing is reliable at 0.999998. The second is the clarification of the current genet...
Establishment and characterization of Caspian horse fibroblast cell bank in Iran. Caspian horse, a rare horse breed found in 1965 by Louise Firouz in northern Iran, is a small horse which is reported to be in danger of extinction in its original homeland. There seems to be a great need to prevent extinction of this valuable horse. In this study, 51 fibroblast cell lines from Caspian horse ear marginal tissue were successfully established by sampling 60 horses using primary explant technique. Cells were authenticated and growth curve was plotted. According to results obtained, population doubling time (PDT) was calculated 23 ± 0.5 h for all cell lines. Multiplex polymera...
High-resolution melting analysis for detection of a single-nucleotide polymorphism and the genotype of the myostatin gene in warmblood horses. OBJECTIVE To develop a high-resolution melting (HRM) assay to detect the g.66493737C>T polymorphism in the myostatin gene (MSTN) and determine the frequency of 3 previously defined g.66493737 genotypes (T/T, T/C, and C/C) in warmblood horses. SAMPLES Blood samples from 23 horses. PROCEDURES From each blood sample, DNA was extracted and analyzed by standard PCR methods and an HRM assay to determine the MSTN genotype. Three protocols (standard protocol, protocol in which a high-salt solution was added to the reaction mixture before the first melting cycle, and protocol in which an unlabeled p...
Systemic and intrafollicular components of follicle selection in mares. Mares are superb models for study of follicle selection owing to similarities between mares and women in relative follicle diameters at specific events during the follicular wave and follicle accessibility for experimental sampling and manipulation. Usually, only 1 major follicular wave with a dominant follicle (DF) greater than 30 mm develops during the 22 to 24 d of the equine estrous cycle and is termed the primary or ovulatory wave. A major secondary wave occasionally (25%) develops early in the cycle. Follicles of the primary wave emerge at 6 mm on day 10 or 11 (day 0 = ovulation). The...
First report of cerebellar abiotrophy in an Arabian foal from Argentina. Evidence of cerebellar abiotrophy (CA) was found in a six-month-old Arabian filly with signs of incoordination, head tremor, wobbling, loss of balance and falling over, consistent with a cerebellar lesion. Normal hematology profile blood test and cerebrospinal fluid analysis excluded infectious encephalitis, and serological testing for Sarcocystis neurona was negative. The filly was euthanized. Postmortem X-ray radiography of the cervical cephalic region identified not abnormalities, discounting spinal trauma. The histopathological analysis of serial transverse cerebellar sections by electron ...
Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México. Hydrocephalus in Friesian horses is an autosomal recessive hereditary disease that can result in an abortion, a stillbirth, or euthanization of a newborn foal. Here, the hydrocephalus-associated c.1423C > T mutation in B3GALNT2 gene was detected with PCR-RFLP and PCR-PIRA methods for horse genotyping. A preliminary genotyping survey was performed on 83 randomly selected Friesian stallion horses to determine the current allele frequency in Mexico. The frequency of the mutant T allele was 9.6%.
Effects of birth weight, sex and neonatal glucocorticoid overexposure on glucose-insulin dynamics in young adult horses. In several species, adult metabolic phenotype is influenced by the intrauterine environment, often in a sex-linked manner. In horses, there is also a window of susceptibility to programming immediately after birth but whether adult glucose-insulin dynamics are altered by neonatal conditions remains unknown. Thus, this study investigated the effects of birth weight, sex and neonatal glucocorticoid overexposure on glucose-insulin dynamics of young adult horses. For the first 5 days after birth, term foals were treated with saline as a control or ACTH to raise cortisol levels to those of stressed...
Oral administration of transgenic barley expressing a Culicoides allergen induces specific antibody response. Insect bite hypersensitivity is an immunoglobulin (Ig)E-mediated dermatitis of horses initiated by bites of midges of the genus Culicoides. Culicoides spp. are not indigenous to Iceland and the prevalence of insect bite hypersensitivity is much higher in horses born in Iceland and exported as compared to Icelandic horses born in a Culicoides rich environment. Immunotherapy is therefore needed. Objective: The aim of the study was to express an allergen from Culicoides in barley grain and investigate whether an immune response could be obtained in healthy Icelandic horses by oral treatment with ...
Evaluation of housekeeping genes for quantitative gene expression analysis in the equine kidney. Housekeeping genes (HKGs) are used as internal controls for normalising and calculating the relative expression of target genes in RT-qPCR experiments. There is no unique universal HKG and HKGs vary among organisms and tissues, so this study aimed to determine the most stably expressed HKGs in the equine kidney. The evaluated HKGs included 18S ribosomal RNA (18S), 28S ribosomal RNA (28S), ribosomal protein L32 (RPL32), β-2-microglobulin (B2M), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), succinate dehydrogenase complex (SDHA), zeta polypeptide (YWHAZ), and hypoxanthine phosphoribosyltran...
Selection of a candidate probiotic strain of Pediococcus pentosaceus from the faecal microbiota of horses by in vitro testing and health claims in a mouse model of Salmonella infection. The aim of this study was to verify the suitable use of candidate 'probiotics' selected by in vitro tests and the importance of in vivo assays to nominate micro-organisms as probiotics and alternative prophylactic treatments for Salmonella Typhimurium infection. Results: Thirty-three lactic acid bacteria (LAB) isolated from foal's faeces were assessed based on the main desirable functional in vitro criteria. Based on these results, Pediococcus pentosaceus strain 40 was chosen to evaluate its putative probiotic features in a mouse model of Salmonella infection. Daily intragastric doses of Pe...
Diversity of mitochondrial DNA in three Arabian horse strains. Arabian horse registries classify Arabian horses based on their dam lineages into five main strains. To test the maternal origin of Syrian Arabian horses, 192 horses representing the three major strains Saglawi, Kahlawi, and Hamdani were sequenced for 353 bp of their mitochondrial displacement loop (D-loop) region. Sequencing revealed 28 haplotypes comprising 38 sequence variations. The haplotype diversity values were 0.95, 0.91, and 0.90 in Kahlawi, Hamdani, and Saglawi strains, respectively. The pair-wise population differentiation estimates (Fst) between strains were low, ranging between 0...
Molecular epidemiology of Corynebacterium pseudotuberculosis isolated from horses in California. Corynebacterium pseudotuberculosis biovar Equi is an important pathogen of horses. It is increasing in frequency in the United States, and is responsible for various clinical forms of infection, including external abscesses, internal abscesses of the abdominal or thoracic cavities, and ulcerative lymphangitis. The host/pathogen factors dictating the form or severity of infection are currently unknown. Our recent investigations have shown that genotyping C. pseudotuberculosis isolates using enterobacterial repetitive intergenic consensus (ERIC)-PCR is useful for understanding the evolutionary g...
Developmental expression of B cell molecules in equine lymphoid tissues. Identification and classification of B cell subpopulations has been shown to be challenging and inconsistent among different species. Our study tested aspects of ontogeny, phenotype, tissue distribution, and function of equine CD5 B cells, which represented a greater proportion of B cells early in development and in the peritoneal cavity. CD5 and CD5 B cells differentially expressed B cell markers (CD2, CD21, IgM) measured using flow cytometry, but similar mRNA expression of signature genes (DGKA, FGL2, PAX5, IGHM, IL10) measured using quantitative RT-PCR. Sequencing lambda light chain segment...
Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. The Miniature Shetland pony represents a horse breed with an extremely small body size. Clinical examination of a dwarf Miniature Shetland pony revealed a lowered size at the withers, malformed skull and brachygnathia superior. Computed tomography (CT) showed a shortened maxilla and a cleft of the hard and soft palate which protruded into the nasal passage leading to breathing difficulties. Pathological examination confirmed these findings but did not reveal histopathological signs of premature ossification in limbs or cranial sutures. Whole-genome sequencing of this dwarf Miniature Shetland p...
Hypertrophic osteopathy secondary to metastatic ovarian adenocarcinoma in a mare. A 10-year-old Andalusian mare was presented for evaluation of weight loss, increasing periods of recumbency, and swelling of the lower limbs. Radiographs revealed severe palisading to solid periosteal new bone formation in numerous locations. Necropsy revealed a metastatic malignant adenocarcinoma of ovarian origin with secondary hypertrophic osteopathy. Une jument d’Andalousie âgée de 10 ans a été présentée pour évaluation à la suite d’une perte de poids, de périodes croissantes de décubitus et d’enflure dans les membres inférieurs. Les radiographies ont révélé des lésio...
Allelic Variation in CXCL16 Determines CD3+ T Lymphocyte Susceptibility to Equine Arteritis Virus Infection and Establishment of Long-Term Carrier State in the Stallion. Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory, systemic, and reproductive disease of horses and other equid species. Following natural infection, 10-70% of the infected stallions can become persistently infected and continue to shed EAV in their semen for periods ranging from several months to life. Recently, we reported that some stallions possess a subpopulation(s) of CD3+ T lymphocytes that are susceptible to in vitro EAV infection and that this phenotypic trait is associated with long-term carrier status following exposure to the virus. ...
Spotted phenotypes in horses lost attractiveness in the Middle Ages. Horses have been valued for their diversity of coat colour since prehistoric times; this is especially the case since their domestication in the Caspian steppe in ~3,500 BC. Although we can assume that human preferences were not constant, we have only anecdotal information about how domestic horses were influenced by humans. Our results from genotype analyses show a significant increase in spotted coats in early domestic horses (Copper Age to Iron Age). In contrast, medieval horses carried significantly fewer alleles for these phenotypes, whereas solid phenotypes (i.e., chestnut) became domina...
