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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.
Assessment of correlation between in vitro CD3+ T cell susceptibility to EAV infection and clinical outcome following experimental infection.
Veterinary microbiology    December 2, 2011   Volume 157, Issue 1-2 220-225 doi: 10.1016/j.vetmic.2011.11.031
Go YY, Cook RF, Fulgêncio JQ, Campos JR, Henney P, Timoney PJ, Horohov DW, Balasuriya UB.In a recent study, we demonstrated that the virulent Bucyrus strain (VBS) of EAV could infect in vitro a small population of CD3(+) T lymphocytes from some but not all horses. Furthermore, we have shown that a common haplotype is associated with this in vitro CD3(+) T cell susceptibility/resistance phenotype to EAV infection. In this study, we investigated whether the differences in the susceptibility or resistance of CD3(+) T cells in vitro correlate with the outcome and severity of clinical signs in vivo. Thus, horses were divided into two groups based on their CD3(+) T cell susceptible or r...
Fertilisation in the horse and paracrine signalling in the oviduct.
Reproduction, fertility, and development    December 1, 2011   Volume 23, Issue 8 941-951 doi: 10.1071/RD10285
Goudet G.The mammalian oviduct plays a crucial role in the preparation of gametes for fertilisation (transport and final maturation) and fertilisation itself. An increasing number of studies offers a comprehensive overview of the functions of the oviduct and its secretions, but this topic has had limited investigation in the horse. Limited data are available on the final oocyte maturation in the equine oviduct. However, in vitro and in vivo systems have been established to analyse the influence of equine oviduct epithelial cells (OEC) during maturation on the potential of oocytes for fertilisation and ...
Quest for the piroplasms in camels: identification of Theileria equi and Babesia caballi in Jordanian dromedaries by PCR.
Veterinary parasitology    November 29, 2011   Volume 186, Issue 3-4 456-460 doi: 10.1016/j.vetpar.2011.11.070
Qablan MA, Sloboda M, Jirků M, Oborník M, Dwairi S, Amr ZS, Hořín P, Lukeš J, Modrý D.DNA of two species of piroplasmids was detected in dromedaries during a survey of blood protozoans in Jordan between 2007 and 2009. Ten clinically healthy camels (10%) originating from three Jordanian districts were found, using a PCR assay, to harbor Theileria or Babesia species in their blood and no mix infection was determined. Analysis of the partial 18S rRNA gene sequences of these parasites allowed their unambiguous identification as equine piroplasmids Babesia caballi (n=6) and Theileria equi (n=4). In case of latter species, a novel genotype was found in horses. This first molecular-ba...
[Gene pool differentiation between Altaic and trotting horse breeds inferred from ISSR-PCR marker data].
Genetika    November 29, 2011   Volume 47, Issue 9 1230-1235 
Feofilov AV, Bardukov NV, Glazko VI.Using ISSR-PCR marker data, comparative analysis of the gene pools of Altaic and trotting horse breeds was carried out. Horse groups of different origin demonstrated differences in amplification spectra of DNA fragments flanked by inverted repeats of four microsatellites. Combinations of certain DNA fragments present in these profiles reproducibly distinguished genomes of the Altaic breed from the trotting breeds. Genetic differentiation between some trotting breeds, based on Nei genetic distance values, was found to be comparable to that between the groups of horses of Altaic breed from two d...
[Effects of Kit gene on coat depigmentation in white horses].
Yi chuan = Hereditas    November 29, 2011   Volume 33, Issue 11 1171-1178 doi: 10.3724/sp.j.1005.2011.01171
Bai DY, Yang LH, Unerhu U, Zhao YP, Zhao QN, Hasigaowa H, Dugarjaviin M.Coat color of horse is an important basis for both species identification and individual recognition and is also one of the important references traits for breeding. Therefore, the research on the mechanism of coat fading has become an important part of horses' coat color study. It has been found that the white phenotype is closely related to the mutation of kit gene, which is located on chromosome 3. Investigated results showed that the formation of the epidermal melanoblast and melanin relies on the expression of kit gene, which determines the presence of white phenotype. Nevertheless, studi...
Neutrophil function of neonatal foals is enhanced in vitro by CpG oligodeoxynucleotide stimulation.
Veterinary immunology and immunopathology    November 25, 2011   Volume 145, Issue 1-2 290-297 doi: 10.1016/j.vetimm.2011.11.012
Bordin AI, Liu M, Nerren JR, Buntain SL, Brake CN, Kogut MH, Cohen ND.Rhodococcus equi is an intracellular bacterium that causes pneumonia in foals and immunocompromised adult horses. Evidence exists that foals become infected with R. equi early in life, a period when innate immune responses are critically important for protection against infection. Neutrophils are innate immune cells that play a key role in defense against this bacterium. Enhancing neutrophil function during early life could thus help to protect foals against R. equi infection. The objective of our study was to determine whether in vitro incubation with the TLR9 agonist CpG 2142 would enhance d...
The mare: a 1000-pound guinea pig for study of the ovulatory follicular wave in women.
Theriogenology    November 23, 2011   Volume 77, Issue 5 818-828 doi: 10.1016/j.theriogenology.2011.09.025
Ginther OJ.The mare is a good comparative model for study of ovarian follicles in women, owing to striking similarities in follicular waves and the mechanism for selection of a dominant follicle. Commonality in follicle dynamics between mares and women include: (1) a ratio of 2.2:1 (mare:woman) in diameter of the largest follicle at wave emergence when the wave-stimulating FSH surge reaches maximum, in diameter increase of the two largest follicles between emergence and the beginning of deviation between the future dominant and subordinate follicles, in diameter of each of the two largest follicles at th...
Expression of anti-Müllerian hormone, cyclin-dependent kinase inhibitor (CDKN1B), androgen receptor, and connexin 43 in equine testes during puberty.
Theriogenology    November 23, 2011   Volume 77, Issue 5 847-857 doi: 10.1016/j.theriogenology.2011.09.007
Almeida J, Conley AJ, Mathewson L, Ball BA.Sertoli cells are essential in development of a functional testis. During puberty, Sertoli cell maturation can be characterized by a number of markers, including anti-Müllerian hormone (AMH) and its receptor (AMHR2), androgen receptor (AR), cyclin-dependent kinase inhibitor (CDKN1B), and connexin 43 (Cx43). In the present study, immunohistochemistry (IHC) and real-time quantitative polymerase chain reaction (RT-qPCR) were used to characterize changes in expression of AMH, AMHR2, AR, CDKN1B, and Cx43 in prepubertal, postpubertal, and adult equine testes. During puberty, AMH expression decrease...
Geographic structuring of global EIAV isolates: a single origin for New World strains?
Virus research    November 22, 2011   Volume 163, Issue 2 656-659 doi: 10.1016/j.virusres.2011.11.011
Capomaccio S, Cappelli K, Cook RF, Nardi F, Gifford R, Marenzoni ML, Passamonti F.Equine infectious anaemia virus (EIAV) is classified within the Retroviridae and, like other lentivirus, has the propensity for considerable antigenic variation. An extensive phylogenetic analysis in Bayesian fashion, with significant amounts of new EIAV gag sequence information, revealed a strong geographic compartmentalization clearly related to the phylogeographic history of modern horses, pointing out that New World EIAV strains form a distinct group with a potentially common origin. This evidence suggests that a single founder event may have occurred during the reintroduction of horses to...
Immunohistochemical localisation of progesterone and oestrogen receptors at the placental interface in mares during early pregnancy.
Animal reproduction science    November 22, 2011   Volume 129, Issue 3-4 200-208 doi: 10.1016/j.anireprosci.2011.11.004
Wilsher S, Gower S, Allen WR.Previous reports documenting progesterone receptors (PR) and oestrogen receptors (ER) in the endometrium of early pregnant mares included specimens only up to Day 20 post ovulation. This study aimed to localise PR and ERα on equine feto-maternal tissues between Days 20 and 68 to encompass the period around fixation of the conceptus, development of the endometrial cups and attachment and initial interdigitation of the allantochorion. During early pregnancy mares had the same pattern of PR in the endometrium as that reported for other mammals; namely, a loss of PR from the endometrial epithelia...
Equine degenerative myeloencephalopathy in Lusitano horses.
Journal of veterinary internal medicine    November 19, 2011   Volume 25, Issue 6 1439-1446 doi: 10.1111/j.1939-1676.2011.00817.x
Finno CJ, Higgins RJ, Aleman M, Ofri R, Hollingsworth SR, Bannasch DL, Reilly CM, Madigan JE.Equine degenerative myeloencephalopathy (EDM) is a neurodegenerative disorder that has been previously associated with low vitamin E concentrations. Objective: To describe the clinical, electrophysiologic, and pathologic features of EDM in a group of related Lusitano horses. Methods: Fifteen Lusitano horses. Methods: Neurologic examinations were conducted, and serum vitamin E concentrations were measured. Three neurologically abnormal horses were further evaluated by ophthalmologic examination, electroretinography, electroencephalography, muscle and nerve biopsies, and post-mortem examination....
Disorders of sexual development in the domestic horse, Equus caballus. Lear TL, McGee RB.Abnormalities of sexual development causing infertility in horses have been investigated since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the primary tool used to investigate these horses. Abnormalities have a broad range, from a phenotypically normal mare with gonadal dysgenesis to a horse with ambiguous external genitalia and internal male and female organs. Cytogenetic analysis can determine genetic sex but cannot identify mutations or deletions of genes involved in the sex determination pathway. Molecular technologies have been developed to confirm cytogene...
Coat colour and sex identification in horses from Iron Age Sweden.
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft    November 17, 2011   Volume 194, Issue 1 82-87 doi: 10.1016/j.aanat.2011.11.001
Svensson EM, Telldahl Y, Sjöling E, Sundkvist A, Hulth H, Sjøvold T, Götherström A.Domestication of animals and plants marked a turning point in human prehistory. To date archaeology, archaeozoology and genetics have shed light on when and where all of our major livestock species were domesticated. Phenotypic changes associated with domestication have occurred in all farm animals. Coat colour is one of the traits that have been subjected to the strongest human selection throughout history. Here we use genotyping of coat colour SNPs in horses to investigate whether there were any regional differences or preferences for specific colours associated with specific cultural tradit...
Towards a new treatment for equine acute laminitis: the importance of signalling pathways.
Veterinary journal (London, England : 1997)    November 16, 2011   Volume 192, Issue 3 258-259 doi: 10.1016/j.tvjl.2011.10.011
Mitchell JD, Elliott J.No abstract available
Influence of the uterine environment on the development of in vitro-produced equine embryos.
Reproduction (Cambridge, England)    November 16, 2011   Volume 143, Issue 2 173-181 doi: 10.1530/REP-11-0217
Smits K, Govaere J, Peelman LJ, Goossens K, de Graaf DC, Vercauteren D, Vandaele L, Hoogewijs M, Wydooghe E, Stout T, Van Soom A.The necessity for early interaction between the embryo and the oviductal and/or uterine environment in the horse is reflected by several striking differences between equine embryos that develop in vivo and those produced in vitro. Better understanding of the salient interactions may help to improve the efficiency of in vitro equine embryo production. In an initial experiment, cleavage-stage in vitro-produced (IVP) equine embryos were transferred into the uterus of recipient mares that had ovulated recently to determine whether premature placement in this in vivo environment would improve subse...
In vitro studies on intestinal calcium and phosphate transport in horses.
Comparative biochemistry and physiology. Part A, Molecular & integrative physiology    November 16, 2011   Volume 161, Issue 2 259-264 doi: 10.1016/j.cbpa.2011.11.005
Cehak A, Wilkens MR, Guschlbauer M, Mrochen N, Schröder B, Feige K, Breves G.Transepithelial transport mechanisms play a key role in regulating the absorption and secretion of calcium (Ca(2+)) and inorganic phosphate (P(i)) in the gastrointestinal tract. Although intestinal disorders with imbalances in macromineral homeostasis are frequently observed in horses, available data on intestinal Ca(2+) and P(i) transport are limited. The aim of the present study was to characterize the intestinal Ca(2+) and P(i) transport functionally by using the in vitro radioisotope tracer technique with Ussing chambers and to identify components involved in Ca(2+) transport at both mRNA ...
A native disulfide stabilizes non-native helical structures in partially folded states of equine β-lactoglobulin.
Biochemistry    November 16, 2011   Volume 50, Issue 49 10590-10597 doi: 10.1021/bi2013239
Yamamoto M, Nakagawa K, Fujiwara K, Shimizu A, Ikeguchi M, Ikeguchi M.Equine β-lactoglobulin (ELG) assumes non-native helices during refolding and in partially folded states. Previously, circular dichroism (CD) combined with site-directed mutagenesis identified helical regions in the acid- and cold-denatured states of ELG. It is also known that a fragment of ELG, CHIBL (residues 88-142), has a structure similar to that of the cold-denatured state. For the study reported herein, the structure of a shorter fragment, CHIBLΔF (residues 97-142), was investigated by CD and nuclear magnetic resonance spectroscopy. The secondary chemical shifts clearly showed that non...
GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development. Révay T, Villagómez DA, Brewer D, Chenier T, King WA.Genetic sex in mammals is determined by the sex chromosomal composition of the zygote. The X and Y chromosomes are responsible for numerous factors that must work in close concert for the proper development of a healthy sexual phenotype. The role of androgens in case of XY chromosomal constitution is crucial for normal male sex differentiation. The intracellular androgenic action is mediated by the androgen receptor (AR), and its impaired function leads to a myriad of syndromes with severe clinical consequences, most notably androgen insensitivity syndrome and prostate cancer. In this paper, w...
Whole mitochondrial genome sequencing of domestic horses reveals incorporation of extensive wild horse diversity during domestication.
BMC evolutionary biology    November 14, 2011   Volume 11 328 doi: 10.1186/1471-2148-11-328
Lippold S, Matzke NJ, Reissmann M, Hofreiter M.DNA target enrichment by micro-array capture combined with high throughput sequencing technologies provides the possibility to obtain large amounts of sequence data (e.g. whole mitochondrial DNA genomes) from multiple individuals at relatively low costs. Previously, whole mitochondrial genome data for domestic horses (Equus caballus) were limited to only a few specimens and only short parts of the mtDNA genome (especially the hypervariable region) were investigated for larger sample sets. Results: In this study we investigated whole mitochondrial genomes of 59 domestic horses from 44 breeds an...
Cloning of equine herpesvirus type 1 438/77 strain genome as a bacterial artificial chromosome.
Berliner und Munchener tierarztliche Wochenschrift    November 9, 2011   Volume 124, Issue 5-6 203-208 
Sun X, Yao H, Zhang C, Lu C.Equine herpesvirus type 1 (EHV-1) is a major cause of respiratory and reproductive diseases in horses worldwide. The genome of EHV-1 strain 438/77 (isolated from an aborted equine fetus) was cloned as a bacterial artificial chromosome (BAC) in E. coli without any gene deletions. The mini-F plasmid sequence was inserted in the middle of ORF19 and 20 via homologous recombination following co-transfection of viral DNA and plasmid pE19_20/HA into RK13 cells. Circular viral DNA was extracted from RK13 cells infected with purified recombinant virus expressing green fluorescent protein (GFP) and elec...
Inbreeding in the Thoroughbred horse.
Animal genetics    November 8, 2011   Volume 43, Issue 3 340-342 doi: 10.1111/j.1365-2052.2011.02259.x
Binns MM, Boehler DA, Bailey E, Lear TL, Cardwell JM, Lambert DH.Changes in the inbreeding coefficient, F, in the Thoroughbred horse over the past 45 years have been investigated by genotyping 467 Thoroughbred horses (born between 1961 and 2006) using the Illumina Equine SNP50 bead chip, which comprises 54,602 SNPs uniformly distributed across the equine genome. The Spearman rank correlation coefficient, r, between the year of birth and F was estimated. The results indicate that inbreeding in Thoroughbreds has increased over the past 40 years, with r = 0.24, P < 0.001 demonstrating that there is a highly significant, though relatively weak correlation be...
Association analysis of SNPs in the IL21R gene with recurrent airway obstruction (RAO) in Swiss Warmblood horses.
Animal genetics    November 7, 2011   Volume 43, Issue 4 475-476 doi: 10.1111/j.1365-2052.2011.02289.x
Klukowska-Rötzler J, Gerber V, Leeb T.No abstract available
Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.
Proceedings of the National Academy of Sciences of the United States of America    November 7, 2011   Volume 108, Issue 46 18626-18630 doi: 10.1073/pnas.1108982108
Pruvost M, Bellone R, Benecke N, Sandoval-Castellanos E, Cieslak M, Kuznetsova T, Morales-Muñiz A, O'Connor T, Reissmann M, Hofreiter M, Ludwig A.Archaeologists often argue whether Paleolithic works of art, cave paintings in particular, constitute reflections of the natural environment of humans at the time. They also debate the extent to which these paintings actually contain creative artistic expression, reflect the phenotypic variation of the surrounding environment, or focus on rare phenotypes. The famous paintings "The Dappled Horses of Pech-Merle," depicting spotted horses on the walls of a cave in Pech-Merle, France, date back ~25,000 y, but the coat pattern portrayed in these paintings is remarkably similar to a pattern known as...
Harnessing the genetic toolbox for the benefit of the racing Thoroughbred.
Equine veterinary journal    November 6, 2011   Volume 44, Issue 1 8-12 doi: 10.1111/j.2042-3306.2011.00465.x
Webbon P.The understanding and application of genetics have grown extremely quickly since it has become possible to sequence the whole genome of an organism. The human genome sequence was completed in 2001 and that of the horse in 2007. The significance of this is that it makes it more feasible to explain how both genetically simple and complex traits are transmitted from one generation to the next and, therefore, to make informed breeding decisions, modify how horses are managed and trained to minimise the risk of disease and injury, and improve methods of prevention, diagnosis and treatment of many c...
Nucleolar organizer regions (NORs) distribution and behavior in spermatozoa and meiotic cells of the horse (Equus caballus).
Theriogenology    November 4, 2011   Volume 77, Issue 3 579-587 doi: 10.1016/j.theriogenology.2011.08.034
Wnuk M, Villagómez DA, Bugno-Poniewierska M, Tumidajewicz P, Carter TF, Slota E.Nucleolar organizing regions (NORs) containing rDNA gene clusters have been assigned to the equine autosomes ECA1, ECA28, and ECA31. Active NORs (Ag-NORs) are associated with argyrophilic proteins, which allow them to be readily identified using silver staining techniques. Fluorescence in situ hybridization (FISH) for rDNA can also be used to visualize all NOR clusters in the nucleus, regardless of whether they are active or inactive. The present study analyzed the distribution and behavior of equine Ag-NOR and NOR clusters in horse spermatozoa and during male meiosis by FISH and silver staini...
A genome-wide association study of osteochondritis dissecans in the Thoroughbred.
Mammalian genome : official journal of the International Mammalian Genome Society    November 4, 2011   Volume 23, Issue 3-4 294-303 doi: 10.1007/s00335-011-9363-1
Corbin LJ, Blott SC, Swinburne JE, Sibbons C, Fox-Clipsham LY, Helwegen M, Parkin TD, Newton JR, Bramlage LR, McIlwraith CW, Bishop SC, Woolliams JA....Osteochondrosis is a developmental orthopaedic disease that occurs in horses, other livestock species, companion animal species, and humans. The principal aim of this study was to identify quantitative trait loci (QTL) associated with osteochondritis dissecans (OCD) in the Thoroughbred using a genome-wide association study. A secondary objective was to test the effect of previously identified QTL in the current population. Over 300 horses, classified as cases or controls according to clinical findings, were genotyped for the Illumina Equine SNP50 BeadChip. An animal model was first implemented...
The role of proliferation in the regulation of interferon gamma (IFNγ) expression in foals.
Developmental and comparative immunology    November 4, 2011   Volume 36, Issue 3 534-539 doi: 10.1016/j.dci.2011.09.009
Sun L, Adams AA, Betancourt A, Stewart JC, Liu C, Horohov DW.Interferon-gamma (IFNγ) plays an important role against viral and intracellular bacterial infections and its production is deficient in foals. Cellular proliferation provides an opportunity for de novo gene expression, though little is known about its role in regulating IFNγ expression in foals. While stimulation of foal peripheral blood mononuclear cells (PBMCs) with concanavalin A (ConA) increased the frequency of IFNγ(+) cells, the overall percentage of IFNγ(+) cells remained below that of adults. By contrast, the proliferative response of foal PBMC was significantly greater than that o...
Characterization of the fecal bacteria communities of forage-fed horses by pyrosequencing of 16S rRNA V4 gene amplicons.
FEMS microbiology letters    November 2, 2011   Volume 326, Issue 1 62-68 doi: 10.1111/j.1574-6968.2011.02434.x
Shepherd ML, Swecker WS, Jensen RV, Ponder MA.The diversity of the equine fecal bacterial community was evaluated using pyrosequencing of 16S rRNA gene amplicons. Fecal samples were obtained from horses fed cool-season grass hay. Fecal bacteria were characterized by amplifying the V4 region of bacterial 16S rRNA gene. Of 5898 mean unique sequences, a mean of 1510 operational taxonomic units were identified in the four fecal samples. Equine fecal bacterial richness was higher than that reported in humans, but lower than that reported in either cattle feces or soil. Bacterial classified sequences were assigned to 16 phyla, of which 10 were ...
High microsatellite and mitochondrial diversity in Anatolian native horse breeds shows Anatolia as a genetic conduit between Europe and Asia.
Animal genetics    October 31, 2011   Volume 43, Issue 4 401-409 doi: 10.1111/j.1365-2052.2011.02285.x
Koban E, Denizci M, Aslan O, Aktoprakligil D, Aksu S, Bower M, Balcioglu BK, Ozdemir Bahadir A, Bilgin R, Erdag B, Bagis H, Arat S.The horse has been a food source, but more importantly, it has been a means for transport. Its domestication was one of the crucial steps in the history of human civilization. Despite the archaeological and molecular studies carried out on the history of horse domestication, which would contribute to conservation of the breeds, the details of the domestication of horses still remain to be resolved. We employed 21 microsatellite loci and mitochondrial control region partial sequences to analyse genetic variability within and among four Anatolian native horse breeds, Ayvacık Pony, Malakan Horse...
Phylogenetic relationships of the Hucul horse from Romania inferred from mitochondrial D-loop variation.
Genetics and molecular research : GMR    October 31, 2011   Volume 10, Issue 4 4104-4113 doi: 10.4238/2011.October.31.7
Georgescu SE, Manea MA, Dudu A, Costache M.The existence of the Hucul horse on Romanian territory has been documented from the very distant past; today Hucul is a unique breed that is part of the FAO Program for the Preservation of Animal Genetic Resources. We compared Hucul with several primitive European and Asiatic breeds in order to elucidate the origin of these horses. We analyzed a 683-bp mitochondrial DNA (mtDNA) D-loop fragment in a population of Hucul horses and compared the polymorphic sites with sequences from other primitive breeds, including Exmoor, Icelandic Pony, Sorraia, Przewalski Horse, Mongolian Wild Horse, Konik, an...