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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.
Genome specialization and decay of the strangles pathogen, Streptococcus equi, is driven by persistent infection.
Genome research    July 9, 2015   Volume 25, Issue 9 1360-1371 doi: 10.1101/gr.189803.115
Harris SR, Robinson C, Steward KF, Webb KS, Paillot R, Parkhill J, Holden MT, Waller AS.Strangles, the most frequently diagnosed infectious disease of horses worldwide, is caused by Streptococcus equi. Despite its prevalence, the global diversity and mechanisms underlying the evolution of S. equi as a host-restricted pathogen remain poorly understood. Here, we define the global population structure of this important pathogen and reveal a population replacement in the late 19th or early 20th Century. Our data reveal a dynamic genome that continues to mutate and decay, but also to amplify and acquire genes despite the organism having lost its natural competence and become host-rest...
Molecular studies on European equine isolates of Leptospira interrogans serovars Bratislava and Muenchen. Arent Z, Gilmore C, Brem S, Ellis WA.Strains of Leptospira interrogans belonging to two very closely related serovars – Bratislava and Muenchen – are known to cause widespread infection of the horse population in many parts of the world. Conventional serological typing of isolates has been unable to differentiate between wildlife, pig, dog and possibly horse maintained isolates and therefore has been unable to provide further insight into their diversity and the relationship between them. Twenty-one such European isolates of serovar Bratislava and Muenchen were examined by restriction endonuclease analysis and multiple-locus ...
Sex ratio of equine offspring is affected by the ages of the mare and stallion.
Theriogenology    July 9, 2015   Volume 84, Issue 7 1238-1245 doi: 10.1016/j.theriogenology.2015.07.001
Santos MM, Maia LL, Nobre DM, Oliveira Neto JF, Garcia TR, Lage MC, de Melo MI, Viana WS, Palhares MS, da Silva Filho JM, Santos RL, Valle GR.The aim of this study was to determine the influence of parental age on the sex ratio of offspring in horses. Two trials were performed. In the first trial, the data from a randomly obtained population with a 1:1 sex ratio of 59,950 Mangalarga Marchador horses born in Brazil from 1990 to 2011 were analyzed. The sex ratios of the offspring were compared among groups according to the mare and the stallion ages (from 3 to 25 years). In the first step of the analysis, the mares and stallions were grouped according to age in 5-year intervals. In the second step, the groups were based on the parenta...
Next Generation Semiconductor Based Sequencing of the Donkey (Equus asinus) Genome Provided Comparative Sequence Data against the Horse Genome and a Few Millions of Single Nucleotide Polymorphisms.
PloS one    July 7, 2015   Volume 10, Issue 7 e0131925 doi: 10.1371/journal.pone.0131925
Bertolini F, Scimone C, Geraci C, Schiavo G, Utzeri VJ, Chiofalo V, Fontanesi L.Few studies investigated the donkey (Equus asinus) at the whole genome level so far. Here, we sequenced the genome of two male donkeys using a next generation semiconductor based sequencing platform (the Ion Proton sequencer) and compared obtained sequence information with the available donkey draft genome (and its Illumina reads from which it was originated) and with the EquCab2.0 assembly of the horse genome. Moreover, the Ion Torrent Personal Genome Analyzer was used to sequence reduced representation libraries (RRL) obtained from a DNA pool including donkeys of different breeds (Grigio Sic...
Expression of T helper type 17 (Th17)-associated cytokines and toll-like receptor 4 and their correlation with Foxp3 positive cells in rectal biopsies of horses with clinical signs of inflammatory bowel disease.
Veterinary journal (London, England : 1997)    July 7, 2015   Volume 206, Issue 1 97-104 doi: 10.1016/j.tvjl.2015.07.003
Olofsson KM, Hjertner B, Fossum C, Press CM, Lindberg R.Inflammatory bowel disease (IBD) in horses is an idiopathic disorder, encompassing different types of chronic intestinal inflammation. The pathogenesis of the disease remains to be established, but it has been suggested that an imbalance between regulatory T cells (Tregs) and T helper 17 (Th17)-associated cytokines and altered toll-like receptor 4 (TLR4) expression is associated with intestinal inflammation in other species. The aim of the present study was to quantify Tregs in rectal biopsies from horses affected with IBD by immunohistochemistry and to evaluate expression of genes encoding in...
Characterization of neopeptides in equine articular cartilage degradation.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    July 7, 2015   Volume 34, Issue 1 106-120 doi: 10.1002/jor.22963
Peffers MJ, Thornton DJ, Clegg PD.Osteoarthritis is characterized by a loss of extracellular matrix that leads to cartilage degradation and joint space narrowing. Specific proteases, including the aggrecanases ADAMTS-4 and matrix metalloproteinase 3, are important in initiating and promoting cartilage degradation in osteoarthritis. This study investigated protease-specific and disease-specific cleavage patterns of particular extracellular matrix proteins by comparing new peptide fragments, neopeptides, in specific exogenous protease-driven digestion of a crude cartilage proteoglycan extract and an in-vitro model of early osteo...
A genetic analysis of the Italian Salernitano horse.
Animal : an international journal of animal bioscience    July 6, 2015   Volume 9, Issue 10 1610-1616 doi: 10.1017/S1751731115001019
Criscione A, Moltisanti V, Chies L, Marletta D, Bordonaro S.Salernitano (SAL) is an ancient Italian horse breed developed over the course of the ages together with Napoletano and, during the 20th century, by crossing with Thoroughbred horse lines. Excellent in hurdle jumping, this breed is currently facing a concrete risk of extinction due to the lack of appropriate management strategies. This research is the first SAL genetic characterization that aims to set up the basic knowledge for a conservation plan. A representative sample of 61 SALs was analyzed by means of a set of 16 microsatellites markers (short tandem repeats (STRs)). The sequence of hype...
Equine recurrent uveitis: Human and equine perspectives.
Veterinary journal (London, England : 1997)    July 3, 2015   Volume 206, Issue 1 22-29 doi: 10.1016/j.tvjl.2015.06.017
Malalana F, Stylianides A, McGowan C.Equine recurrent uveitis (ERU) is a spontaneous disease characterised by repeated episodes of intraocular inflammation. The epidemiology of ERU has not been fully elucidated, but the condition appears to be much more common in horses than is recurrent uveitis in humans, especially in certain breeds and geographical regions. Both humans and horses show a similarly altered immune response and a marked autoimmune response as the primary disease pathophysiology. However, an inciting cause is not always clear. Potential inciting factors in horses include microbial agents such as Leptospira spp. Mic...
Chronic Pancreatitis with Acinar-Ductal Metaplasia and Ductal Dysplasia in a Horse.
Journal of comparative pathology    July 2, 2015   Volume 153, Issue 2-3 131-134 doi: 10.1016/j.jcpa.2015.05.002
Leipig M, Abenthum K, Wollanke B, Czupalla I, Esposito I, Steiger K, Hermanns W, Herbach N.A 16-year-old Friesian gelding with relapsing colic was humanely destroyed during diagnostic laparotomy due to suspected abdominal neoplasia. On post-mortem examination, the pancreas appeared as a firm mass (20 × 8 × 8 cm). The cut surface had a lobular structure with multiple cavities. Histological examination revealed severe chronic fibrosing pancreatitis with acinar-ductal metaplasia and duct dysplasia, which was considered to be the cause of the recurrent colic. Formation of tubular complexes within a background of acinar-ductal metaplasia is similar to the regressive lesions detect...
A genetic approach to improving the lives of racing Thoroughbreds.
Equine veterinary journal    July 1, 2015   Volume 48, Issue 3 270-271 doi: 10.1111/evj.12454
Velie B.No abstract available
Cloned foal derived from in vivo matured horse oocytes aspirated by the short disposable needle system.
Journal of veterinary science    June 30, 2015   Volume 16, Issue 4 509-516 doi: 10.4142/jvs.2015.16.4.509
Lee W, Song K, Lee I, Shin H, Lee BC, Yeon S, Jang G.Transvaginal ultrasound-guided follicle aspiration is one method of obtaining recipient oocytes for equine somatic cell nuclear transfer (SCNT). This study was conducted: (1) to evaluate the possibility of oocyte aspiration from pre-ovulatory follicles using a short disposable needle system (14-G) by comparing the oocyte recovery rate with that of a long double lumen needle (12-G); (2) to investigate the developmental competence of recovered oocytes after SCNT and embryo transfer. The recovery rates with the short disposable needle vs. the long needle were not significantly different (47.5% an...
Androgen receptor gene polymorphism in zebra species.
Meta gene    June 30, 2015   Volume 5 120-123 doi: 10.1016/j.mgene.2015.06.006
Ito H, Langenhorst T, Ogden R, Inoue-Murayama M.Androgen receptor genes (AR) have been found to have associations with reproductive development, behavioral traits, and disorders in humans. However, the influence of similar genetic effects on the behavior of other animals is scarce. We examined the loci AR glutamine repeat (ARQ) in 44 Grevy's zebras, 23 plains zebras, and three mountain zebras, and compared them with those of domesticated horses. We observed polymorphism among zebra species and between zebra and horse. As androgens such as testosterone influence aggressiveness, AR polymorphism among equid species may be associated with diffe...
Racehorses are getting faster.
Biology letters    June 26, 2015   Volume 11, Issue 6 20150310 doi: 10.1098/rsbl.2015.0310
Sharman P, Wilson AJ.Previous studies have concluded that thoroughbred racehorse speed is improving very slowly, if at all, despite heritable variation for performance and putatively intensive selective breeding. This has led to the suggestion that racehorses have reached a selection limit. However, previous studies have been limited, focusing only on the winning times of a few elite races run over middle and long distances, and failing to account for potentially confounding factors. Using a much larger dataset covering the full range of race distances and accounting for variation in factors such as ground softnes...
Development of a clonal equine myoblast cell line capable of terminal differentiation into mature myotubes in vitro.
American journal of veterinary research    June 26, 2015   Volume 76, Issue 7 608-614 doi: 10.2460/ajvr.76.7.608
Naylor RJ, Piercy RJ.To produce a clonal equine myoblast cell line that retains the ability to divide for multiple passages and differentiate into multinucleated myotubes during specific conditions. Methods: Cultured primary equine skeletal muscle-derived cells from a healthy Thoroughbred. Methods: Cell cultures were transfected by electroporation with a plasmid (pNIT) that expresses the temperature-sensitive simian vacuolating virus 40 large T antigen (TAg), which can be controlled by a doxycycline-responsive promoter. Cells that stably integrated the TAg were selected and expanded to passage 25. For each passage...
Genetic Variability of Show Jumping Attributes in Young Horses Commencing Competing.
Asian-Australasian journal of animal sciences    June 25, 2015   Volume 28, Issue 8 1090-1094 doi: 10.5713/ajas.14.0866
Próchniak T, Rozempolska-Rucińska I, Zięba G, Łukaszewicz M.The aim of the study was to select traits that may constitute a prospective criterion for breeding value prediction of young horses. The results of 1,232 starts of 894 four-, five-, six-, and seven-year-old horses, obtained during jumping championships for young horses which had not been evaluated in, alternative to championships, training centres were analyed. Nine traits were chosen of those recorded: ranking in the championship, elimination (y/n), conformation, rating of style on day one, two, and three, and penalty points on day one, two, and three of a championship. (Co)variance component...
Y-Single Nucleotide Polymorphisms Diversity in Chinese Indigenous Horse.
Asian-Australasian journal of animal sciences    June 25, 2015   Volume 28, Issue 8 1066-1074 doi: 10.5713/ajas.14.0784
Han H, Zhang Q, Gao K, Yue X, Zhang T, Dang R, Lan X, Chen H, Lei C.In contrast to high genetic diversity of mitochondrial DNA (mtDNA), equine Y chromosome shows extremely low variability, implying limited patrilines in the domesticated horse. In this study, we applied direct sequencing and restriction fragment length polymorphism (RFLP) methods to investigate the polymorphisms of 33 Y chromosome specific loci in 304 Chinese indigenous horses from 13 breeds. Consequently, two Y-single nucleotide polymorphisms (SNPs) (Y-45701/997 and Y-50869) and one Y-indel (Y-45288) were identified. Of those, the Y-50869 (T>A) revealed the highest variation frequency (24.6...
Comparison of the Equine Reference Sequence with Its Sanger Source Data and New Illumina Reads.
PloS one    June 24, 2015   Volume 10, Issue 6 e0126852 doi: 10.1371/journal.pone.0126852
Rebolledo-Mendez J, Hestand MS, Coleman SJ, Zeng Z, Orlando L, MacLeod JN, Kalbfleisch T.The reference assembly for the domestic horse, EquCab2, published in 2009, was built using approximately 30 million Sanger reads from a Thoroughbred mare named Twilight. Contiguity in the assembly was facilitated using nearly 315 thousand BAC end sequences from Twilight's half brother Bravo. Since then, it has served as the foundation for many genome-wide analyses that include not only the modern horse, but ancient horses and other equid species as well. As data mapped to this reference has accumulated, consistent variation between mapped datasets and the reference, in terms of regions with no...
Annotation of the Protein Coding Regions of the Equine Genome.
PloS one    June 24, 2015   Volume 10, Issue 6 e0124375 doi: 10.1371/journal.pone.0124375
Hestand MS, Kalbfleisch TS, Coleman SJ, Zeng Z, Liu J, Orlando L, MacLeod JN.Current gene annotation of the horse genome is largely derived from in silico predictions and cross-species alignments. Only a small number of genes are annotated based on equine EST and mRNA sequences. To expand the number of equine genes annotated from equine experimental evidence, we sequenced mRNA from a pool of forty-three different tissues. From these, we derived the structures of 68,594 transcripts. In addition, we identified 301,829 positions with SNPs or small indels within these transcripts relative to EquCab2. Interestingly, 780 variants extend the open reading frame of the transcri...
Putative regulation mechanism for the MSTN gene by a CpG island generated by the SINE marker Ins227bp.
BMC veterinary research    June 23, 2015   Volume 11 138 doi: 10.1186/s12917-015-0428-3
van den Hoven R, Gür E, Schlamanig M, Hofer M, Onmaz AC, Steinborn R.A single nucleotide polymorphism (SNP) in the first intron of the myostatin gene (MSTN) is associated with aptness of elite Thoroughbreds to race over sprint, middle or long distances. This intronic marker (g.66493737 T ≻ C), a short interspersed nuclear element (SINE) of 227 bp (Ins227bp) insertion polymorphism in the MSTN promoter, and the adjacent SNP BIEC2-417495 have not been studied for their association with racing aptness of the average Thoroughbreds raced in countries with lower status of the racing industry. This study investigated these markers regarding their prevalence and assoc...
Complete Mitochondrial genome of an equine intestinal parasite, Triodontophorus brevicauda (Chromadorea: Strongylidae): the first characterization within the genus.
Parasitology international    June 20, 2015   Volume 64, Issue 5 429-434 doi: 10.1016/j.parint.2015.06.006
Duan H, Gao JF, Hou MR, Zhang Y, Liu ZX, Gao DZ, Guo DH, Yue DM, Su X, Fu X, Wang CR.The complete mitochondrial (mt) genome sequence of Triodontophorus brevicauda, an intestinal equine nematode parasite was determined for the first time. The circular T. brevicauda mt genome is 14,305 bp in length and contains 36 genes, of which 12 code for protein, 22 for transfer RNA, and two for ribosomal RNA, and lacks atp8 mtDNA gene. Phylogenetic analysis based on the concatenated amino acid sequence of the 12 protein-coding genes was performed using three different tree-building methods. The Strongyloidea cluster divides into two large branches, and each nematode family included in our s...
Frequencies of polymorphisms in myostatin vary in Icelandic horses according to the use of the horses.
Animal genetics    June 19, 2015   Volume 46, Issue 4 467-468 doi: 10.1111/age.12315
Velie BD, Jäderkvist K, Imsland F, Viluma A, Andersson LS, Mikko S, Eriksson S, Lindgren G.No abstract available
Characterization of Equine Infectious Anemia Virus Integration in the Horse Genome.
Viruses    June 19, 2015   Volume 7, Issue 6 3241-3260 doi: 10.3390/v7062769
Liu Q, Wang XF, Ma J, He XJ, Wang XJ, Zhou JH.Human immunodeficiency virus (HIV)-1 has a unique integration profile in the human genome relative to murine and avian retroviruses. Equine infectious anemia virus (EIAV) is another well-studied lentivirus that can also be used as a promising retro-transfection vector, but its integration into its native host has not been characterized. In this study, we mapped 477 integration sites of the EIAV strain EIAVFDDV13 in fetal equine dermal (FED) cells during in vitro infection. Published integration sites of EIAV and HIV-1 in the human genome were also analyzed as references. Our results demonstrat...
Application of the ASVCP guidelines for the establishment of haematologic and biochemical reference intervals in Icelandic horses in Austria.
Acta veterinaria Scandinavica    June 14, 2015   Volume 57, Issue 1 30 doi: 10.1186/s13028-015-0120-4
Leidinger EF, Leidinger J, Figl J, Rumpler B, Schwendenwein I.Despite the increasing popularity of Icelandic horses, published reference intervals (RIs) in this breed are rare. Due to their isolation and their small gene pool, alterations in some variables are likely and some possible breed-specific peculiarities have been described. The purpose of the present study was the establishment of comprehensive RIs in Icelandic horses according to recently published guidelines. In a prospective observational study, blood samples were collected from the jugular vein of 142 Icelandic horses into EDTA and serum tubes. Reference intervals were established for haema...
Telomerase Activity in Articular Chondrocytes Is Lost after Puberty.
Cartilage    June 13, 2015   Volume 5, Issue 4 215-220 doi: 10.1177/1947603514537518
Wilson B, Novakofski KD, Donocoff RS, Liang YX, Fortier LA.Telomere length and telomerase activity are important indicators of cellular senescence and replicative ability. Loss of telomerase is associated with ageing and the development of osteoarthritis. Implantation of telomerase-positive cells, chondrocytes, or stem cells expressing a normal chondrocyte phenotype is desired for cartilage repair procedures. The objective of this study was to identify at what age chondrocytes and at what passage bone marrow-derived mesenchymal stem cells (MSCs) become senescent based on telomerase activity. The effect of osteogenic protein-1 (OP-1) or interleukin-1α...
Immunomodulatory Role of Adipose-Derived Stem Cells on Equine Endometriosis.
BioMed research international    June 9, 2015   Volume 2015 141485 doi: 10.1155/2015/141485
Falomo ME, Ferroni L, Tocco I, Gardin C, Zavan B.Endometriosis is a degenerative process due to a chronic inflammatory damage leading to extracellular matrix components deposition and glandular fibrosis. It is known that mesenchymal stem cells secrete a wide range of bioactive molecules, some of them modulating the immune inflammatory response, and others providing regeneration and remodeling of injured tissue. We have performed in vitro experiments in order to analyze the capability of allogenic equine adipose-derived stem cells (ADSCs) to infiltrate mares' endometrial tissues and to stimulate the expression of cytokines and metallopeptidas...
Ageing does not result in a decline in cell synthetic activity in an injury prone tendon.
Scandinavian journal of medicine & science in sports    June 9, 2015   Volume 26, Issue 6 684-693 doi: 10.1111/sms.12500
Thorpe CT, McDermott BT, Goodship AE, Clegg PD, Birch HL.Advancing age is a well-known risk factor for tendon disease. Energy-storing tendons [e.g., human Achilles, equine superficial digital flexor tendon (SDFT)] are particularly vulnerable and it is thought that injury occurs following an accumulation of micro-damage in the extracellular matrix (ECM). Several authors suggest that age-related micro-damage accumulates due to a failure of the aging cell population to maintain the ECM or an imbalance between anabolic and catabolic pathways. We hypothesized that ageing results in a decreased ability of tendon cells to synthesize matrix components and m...
Genetic and serological surveillance for non-primate hepacivirus in horses in Japan.
Veterinary microbiology    June 4, 2015   Volume 179, Issue 3-4 219-227 doi: 10.1016/j.vetmic.2015.05.028
Matsuu A, Hobo S, Ando K, Sanekata T, Sato F, Endo Y, Amaya T, Osaki T, Horie M, Masatani T, Ozawa M, Tsukiyama-Kohara K.Non-primate hepacivirus (NPHV) is a recently discovered homolog of the hepatitis C virus in horses. The frequency and distribution of NPHV infections among horses in Japan is unknown. In this study, serum samples from 453 horses across Japan were screened for NPHV RNA using real-time RT-PCR and anti-nonstructural 3 protein (NS3) antibodies using the Gaussia luciferase immunoprecipitation system assay. In order to monitor the course of NPHV infection in horses, we examined 31 stored samples (9 adult horses and 22 young horses) obtained one year ago and compared the results to the recent data. S...
Sperm DNA quality evaluated by comet assay and sperm chromatin structure assay in stallions after unilateral orchiectomy.
Theriogenology    June 2, 2015   Volume 84, Issue 5 833-837 doi: 10.1016/j.theriogenology.2015.05.024
Unilateral orchiectomy (UO) may interfere with thermoregulation of the remaining testis caused by inflammation surrounding the incision site, thus altering normal spermatogenesis and consequently sperm quality. Two measures of sperm DNA quality (neutral comet assay and the sperm chromatin structure assay [SCSA]) were compared before UO (0 days) and at 14, 30, and 60 days after UO to determine whether sperm DNA changed after a mild testis stress (i.e., UO). The percent DNA in the comet tail was higher at 14 and 60 days compared to 0 days (P < 0.05) after UO. All other comet tail measures (i....
An application of MeSH enrichment analysis in livestock.
Animal genetics    June 2, 2015   Volume 46, Issue 4 381-387 doi: 10.1111/age.12307
Morota G, Peñagaricano F, Petersen JL, Ciobanu DC, Tsuyuzaki K, Nikaido I.An integral part of functional genomics studies is to assess the enrichment of specific biological terms in lists of genes found to be playing an important role in biological phenomena. Contrasting the observed frequency of annotated terms with those of the background is at the core of overrepresentation analysis (ORA). Gene Ontology (GO) is a means to consistently classify and annotate gene products and has become a mainstay in ORA. Alternatively, Medical Subject Headings (MeSH) offers a comprehensive life science vocabulary including additional categories that are not covered by GO. Although...
The Impact of Reproductive Technologies on Stallion Mitochondrial Function.
Reproduction in domestic animals = Zuchthygiene    June 1, 2015   Volume 50, Issue 4 529-537 doi: 10.1111/rda.12551
Peña FJ, Plaza Davila M, Ball BA, Squires EL, Martin Muñoz P, Ortega Ferrusola C, Balao da Silva C.The traditional assessment of stallion sperm comprises evaluation of sperm motility and membrane integrity and identification of abnormal morphology of the spermatozoa. More recently, the progressive introduction of flow cytometry is increasing the number of tests available. However, compared with other sperm structures and functions, the evaluation of mitochondria has received less attention in stallion andrology. Recent research indicates that sperm mitochondria are key structures in sperm function suffering major changes during biotechnological procedures such as cryopreservation. In this p...