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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.
Papillomavirus associated diseases of the horse.
Veterinary microbiology    August 18, 2013   Volume 167, Issue 1-2 159-167 doi: 10.1016/j.vetmic.2013.08.003
Nasir L, Brandt S.The Papillomaviridae family comprises a large number of viruses that can infect a broad range of hosts including mammals, birds and reptiles giving rise to benign lesions of the skin or mucosal membranes. They are characterized by great genetic diversity yet adhere to common biological principles. In this review, we first describe the structure and function of the viral proteins encoded by papillomaviruses (PVs), with a particular emphasis on bovine papillomaviruses (BPV). We then discuss the role of BPV types 1 and 2 in the pathogenesis of equine sarcoids and present recent evidence implicati...
A genome-wide association study identifies risk loci to equine recurrent uveitis in German warmblood horses.
PloS one    August 14, 2013   Volume 8, Issue 8 e71619 doi: 10.1371/journal.pone.0071619
Kulbrock M, Lehner S, Metzger J, Ohnesorge B, Distl O.Equine recurrent uveitis (ERU) is a common eye disease affecting up to 3-15% of the horse population. A genome-wide association study (GWAS) using the Illumina equine SNP50 bead chip was performed to identify loci conferring risk to ERU. The sample included a total of 144 German warmblood horses. A GWAS showed a significant single nucleotide polymorphism (SNP) on horse chromosome (ECA) 20 at 49.3 Mb, with IL-17A and IL-17F being the closest genes. This locus explained a fraction of 23% of the phenotypic variance for ERU. A GWAS taking into account the severity of ERU, revealed a SNP on ECA18 n...
Expression of β2 adrenoceptors within enteric neurons of the horse ileum.
Research in veterinary science    August 12, 2013   Volume 95, Issue 3 837-845 doi: 10.1016/j.rvsc.2013.07.006
Bombardi C, Grandis A, Gardini A, Sorteni C, Clavenzani P, Chiocchetti R.The activity of the gastrointestinal tract is regulated through the activation of adrenergic receptors (ARs). Since data concerning the distribution of ARs in the horse intestine is virtually absent, we investigated the distribution of β2-AR in the horse ileum using double-immunofluorescence. The β2-AR-immunoreactivity (IR) was observed in most (95%) neurons located in submucosal plexus (SMP) and in few (8%) neurons of the myenteric plexus (MP). Tyrosine hydroxylase (TH)-IR fibers were observed close to neurons expressing β2-AR-IR. Since β2-AR is virtually expressed in most neurons located...
Role of tumor necrosis factor-α, interferon-γ and Fas-ligand on in vitro nitric oxide activity in the corpus luteum.
Cytokine    August 12, 2013   Volume 64, Issue 1 18-21 doi: 10.1016/j.cyto.2013.07.015
Galvão AM, Szóstek AZ, Skarzynski DJ, Ferreira-Dias GM.Normal reproductive function involves the expression of inflammatory mediators. Regarding the corpus luteum (CL), cytokines promote the cross-talk between immune, vascular and steroidogenic cells, among others. Moreover, TNF, IFNG and FASL were shown to regulate equine CL establishment and regression. We hypothesized that cytokines action on equine CL may be mediated by nitric oxide (NO), through the regulation of endothelial NO synthase (eNOS) expression. TNF increased eNOS mRNA level and NO metabolite (nitrite) production during CL growth. Cytokines combined action (TNF+IFNG+FASL) promoted e...
Increasing density leads to generalization in both coarse-grained habitat selection and fine-grained resource selection in a large mammal.
The Journal of animal ecology    August 9, 2013   Volume 83, Issue 1 147-156 doi: 10.1111/1365-2656.12115
van Beest FM, Uzal A, Vander Wal E, Laforge MP, Contasti AL, Colville D, McLoughlin PD.Density is a fundamental driver of many ecological processes including habitat selection. Theory on density-dependent habitat selection predicts that animals should be distributed relative to profitability of habitat, resulting in reduced specialization in selection (i.e. generalization) as density increases and competition intensifies. Despite mounting empirical support for density-dependent habitat selection using isodars to describe coarse-grained (interhabitat) animal movements, we know little of how density affects fine-grained resource selection of animals within habitats [e.g. using res...
Can and should we do more to reduce the incidence of cryptorchidism?
Equine veterinary journal    August 6, 2013   Volume 45, Issue 5 531-532 doi: 10.1111/evj.12116
Stout TA.No abstract available
Effect of hay dust extract and cyathostomin antigen stimulation on cytokine expression by PBMC in horses with recurrent airway obstruction.
Veterinary immunology and immunopathology    August 5, 2013   Volume 155, Issue 4 229-237 doi: 10.1016/j.vetimm.2013.07.005
Lanz S, Gerber V, Marti E, Rettmer H, Klukowska-Rötzler J, Gottstein B, Matthews JB, Pirie S, Hamza E.Equine recurrent airway obstruction (RAO) is an inflammatory, obstructive airway disease induced by exposure of susceptible horses to inhaled organic dust particles. The immunological process underlying RAO is still unclear. Previous studies have shown that RAO is linked to the Interleukin-4 receptor (IL-4R) gene in one Warmblood family (F1), but not in another (F2). It has also been shown that in F1, but not in F2, RAO is associated with resistance against parasites, suggesting that this association may have an immuno-genetic basis. Therefore, we hypothesized that the T helper (h)1/Th2/regula...
Involvement of miRNAs in equine follicle development.
Reproduction (Cambridge, England)    July 31, 2013   Volume 146, Issue 3 273-282 doi: 10.1530/REP-13-0107
Schauer SN, Sontakke SD, Watson ED, Esteves CL, Donadeu FX.Previous evidence from in vitro studies suggests specific roles for a subset of miRNAs, including miR-21, miR-23a, miR-145, miR-503, miR-224, miR-383, miR-378, miR-132, and miR-212, in regulating ovarian follicle development. The objective of this study was to determine changes in the levels of these miRNAs in relation to follicle selection, maturation, and ovulation in the monovular equine ovary. In Experiment 1, follicular fluid was aspirated during ovulatory cycles from the dominant (DO) and largest subordinate (S) follicles of an ovulatory wave and the dominant (DA) follicle of a mid-cycle...
Analysis of unannotated equine transcripts identified by mRNA sequencing.
PloS one    July 29, 2013   Volume 8, Issue 7 e70125 doi: 10.1371/journal.pone.0070125
Coleman SJ, Zeng Z, Hestand MS, Liu J, Macleod JN.Sequencing of equine mRNA (RNA-seq) identified 428 putative transcripts which do not map to any previously annotated or predicted horse genes. Most of these encode the equine homologs of known protein-coding genes described in other species, yet the potential exists to identify novel and perhaps equine-specific gene structures. A set of 36 transcripts were prioritized for further study by filtering for levels of expression (depth of RNA-seq read coverage), distance from annotated features in the equine genome, the number of putative exons, and patterns of gene expression between tissues. From ...
Differential miRNA expression between equine ovulatory and anovulatory follicles.
Domestic animal endocrinology    July 27, 2013   Volume 45, Issue 3 122-125 doi: 10.1016/j.domaniend.2013.06.006
Donadeu FX, Schauer SN.Relatively little is known about the physiological roles of microRNAs (miRNAs) during follicular development. Previous evidence from in vitro studies suggests specific roles for a subset of miRNAs, including miR-21, miR-23a, miR-145, miR-503, miR-224, miR-383, miR-378, miR-132, and miR-212, in regulating ovarian follicle development. The objective of this study was to gain insight on the involvement of these miRNAs during follicle maturation. Follicular fluid was aspirated from dominant follicles (>32 mm) during the ovulatory season (July to October) and the anovulatory season (January to M...
Polymorphisms of the Dopamine D4 Receptor Gene in Stabled Horses are Related to Differences in Behavioral Response to Frustration.
Animals : an open access journal from MDPI    July 26, 2013   Volume 3, Issue 3 663-669 doi: 10.3390/ani3030663
Ninomiya S, Anjiki A, Nishide Y, Mori M, Deguchi Y, Satoh T.In stabled horses, behavioral responses to frustration are often observed, especially around feeding time. These behavioral responses are a useful indicator of their welfare. In this study, we investigated the association between this behavioral indicator and DRD4 gene polymorphisms in stabled horses. Twenty one horses housed in two stables were used. The horses were observed for approximately 4 h around feeding over three or more days using focal-sampling and instantaneous-sampling. Horses were genotyped for the A-G substitution in the DRD4 gene. The effects of the A-G substitution (with or w...
The involvement of growth hormone in equine oocyte maturation, receptor localization and steroid production by cumulus-oocyte complexes in vitro.
Research in veterinary science    July 26, 2013   Volume 95, Issue 2 667-674 doi: 10.1016/j.rvsc.2013.06.024
Pereira GR, Lorenzo PL, Carneiro GF, Ball BA, Bilodeau-Goeseels S, Kastelic J, Pegoraro LM, Pimentel CA, Esteller-Vico A, Illera JC, Granado GS....The objectives of this study were to evaluate the effects of equine growth hormone (eGH) on nuclear and cytoplasmic maturation of equine oocytes in vitro, steroid production by cumulus cells, and expression and subcellular localization of eGH-receptors (eGH-R) on equine ovarian follicles. Cumulus-oocyte complexes (COCs) were recovered by aspirating follicles <30 mm in diameter from abattoir-derived ovaries. The COCs were morphologically evaluated and randomly allocated to be cultured in either a control maturation medium or supplemented with 400 ng/mL eGH, for 30 h at 38.5°C in air with 5%...
Effect of sex sorting on stallion spermatozoa: Heterologous oocyte binding, tyrosine phosphorylation and acrosome reaction assay.
Animal reproduction science    July 26, 2013   Volume 141, Issue 1-2 68-74 doi: 10.1016/j.anireprosci.2013.07.008
Balao da Silva CM, Spinaci M, Bucci D, Giaretta E, Peña FJ, Mari G, Galeati G.The interest on sex sorting by flow cytometry on the equine industry has been increasing over the years. In this work, three different tests were performed in order to evaluate the membrane status of sorted stallion spermatozoa: assessment of binding ability to porcine oocytes, evaluation of acrosome integrity after stimulation with A23187, and detection of tyrosine phosphorylation. These evaluations were made after incubation for 0h, 1.5h and 3h in a capacitating medium. Sorted stallion spermatozoa attached similarly to the porcine oocytes, when compared with control samples. Sorted spermatoz...
Whole genomic analyses of equine group A rotaviruses from Japan: evidence for bovine-to-equine interspecies transmission and reassortment events.
Veterinary microbiology    July 26, 2013   Volume 166, Issue 3-4 474-485 doi: 10.1016/j.vetmic.2013.07.016
Ghosh S, Taniguchi K, Aida S, Ganesh B, Kobayashi N.Equine group A rotaviruses (RVA) are a major cause of severe diarrhea in foals. The whole genomes of only six common and three unusual equine RVA strains have been analyzed so far. To date, there are no reports on whole genomic analyses of equine RVAs from Asian countries. We report here the whole genomic analyses of three common (strains RVA/Horse-tc/JPN/BI/1981/G3P[12], RVA/Horse-tc/JPN/HH-22/1989/G3P[12] and RVA/Horse-tc/JPN/CH-3/1987/G14P[12]) and an unusual (RVA/Horse-tc/JPN/OH-4/1982/G6P[5]) equine RVA strains isolated from diarrheic foals in Japan. Strains BI, HH-22 and CH-3 shared a la...
3-D technology used to accurately understand equine ileocolonic aganglionosis.
Cells, tissues, organs    July 25, 2013   Volume 198, Issue 2 160-168 doi: 10.1159/000353218
Muniz E, Lobo Ladd AA, Lobo Ladd FV, da Silva AA, Kmit FV, Borges AS, Teixeira R, da Mota LS, Belli CB, de Zoppa AL, da Silva LC, de Melo MP, Coppi AA.Ileocolonic aganglionosis (ICA) is the congenital and hereditary absence of neurons that constitute the enteric nervous system and has been described in various species including humans - Hirschsprung's disease - and horses - overo lethal white syndrome (OLWS). Hirschsprung's disease affects circa 1 in 5,000 live births. At best, this disease means an inability to absorb nutrients from food (humans). At worse, in horses, it always means death. Despite our general understanding of the functional mechanisms underlying ICA, there is a paucity of reliable quantitative information about the structu...
A comparison of three-dimensional culture systems to evaluate in vitro chondrogenesis of equine bone marrow-derived mesenchymal stem cells.
Tissue engineering. Part A    July 24, 2013   Volume 19, Issue 19-20 2275-2283 doi: 10.1089/ten.TEA.2012.0479
Watts AE, Ackerman-Yost JC, Nixon AJ.To compare in vitro three-dimensional (3D) culture systems that model chondrogenesis of bone marrow-derived mesenchymal stem cells (MSCs). Methods: MSCs from five horses 2-3 years of age were consolidated in fibrin 0.3% alginate, 1.2% alginate, 2.5×10(5) cell pellets, 5×10(5) cell pellets, and 2% agarose, and maintained in chondrogenic medium with supplemental TGF-β1 for 4 weeks. Pellets and media were tested at days 1, 14, and 28 for gene expression of markers of chondrogenic maturation and hypertrophy (ACAN, COL2B, COL10, SOX9, 18S), and evaluated by histology (hematoxylin and eosin, Tolu...
Coat color genotypes and risk and severity of melanoma in gray quarter horses.
Journal of veterinary internal medicine    July 22, 2013   Volume 27, Issue 5 1201-1208 doi: 10.1111/jvim.12133
Teixeira RB, Rendahl AK, Anderson SM, Mickelson JR, Sigler D, Buchanan BR, Coleman RJ, McCue ME.Both graying and melanoma formation in horses have recently been linked to a duplication in the STX17 gene. This duplication, as well as a mutation in the ASIP gene that increases MC1R pathway signaling, affects melanoma risk and severity in gray horses. Objective: To determine if melanoma susceptibility in gray Quarter Horses (QH) is lower than gray horses from other breeds because of decreased MC1R signaling resulting from a high incidence of the MC1R chestnut coat color allele in the QH population. Methods: A total of 335 gray QH with and without dermal melanomas. Methods: Blood or hair roo...
BAG3 protects bovine papillomavirus type 1-transformed equine fibroblasts against pro-death signals.
Veterinary research    July 22, 2013   Volume 44, Issue 1 61 doi: 10.1186/1297-9716-44-61
Cotugno R, Gallotta D, d'Avenia M, Corteggio A, Altamura G, Roperto F, Belisario MA, Borzacchiello G.In human cancer cells, BAG3 protein is known to sustain cell survival. Here, for the first time, we demonstrate the expression of BAG3 protein both in equine sarcoids in vivo and in EqS04b cells, a sarcoid-derived fully transformed cell line harbouring bovine papilloma virus (BPV)-1 genome. Evidence of a possible involvement of BAG3 in equine sarcoid carcinogenesis was obtained by immunohistochemistry analysis of tumour samples. We found that most tumour samples stained positive for BAG3, even though to a different grade, while normal dermal fibroblasts from healthy horses displayed very weak ...
A single amino acid substitution in the core protein of West Nile virus increases resistance to acidotropic compounds.
PloS one    July 18, 2013   Volume 8, Issue 7 e69479 doi: 10.1371/journal.pone.0069479
Martín-Acebes MA, Blázquez AB, de Oya NJ, Escribano-Romero E, Shi PY, Saiz JC.West Nile virus (WNV) is a worldwide distributed mosquito-borne flavivirus that naturally cycles between birds and mosquitoes, although it can infect multiple vertebrate hosts including horses and humans. This virus is responsible for recurrent epidemics of febrile illness and encephalitis, and has recently become a global concern. WNV requires to transit through intracellular acidic compartments at two different steps to complete its infectious cycle. These include fusion between the viral envelope and the membrane of endosomes during viral entry, and virus maturation in the trans-Golgi netwo...
Analysis of copy number variants by three detection algorithms and their association with body size in horses.
BMC genomics    July 18, 2013   Volume 14 487 doi: 10.1186/1471-2164-14-487
Metzger J, Philipp U, Lopes MS, da Camara Machado A, Felicetti M, Silvestrelli M, Distl O.Copy number variants (CNVs) have been shown to play an important role in genetic diversity of mammals and in the development of many complex phenotypic traits. The aim of this study was to perform a standard comparative evaluation of CNVs in horses using three different CNV detection programs and to identify genomic regions associated with body size in horses. Results: Analysis was performed using the Illumina Equine SNP50 genotyping beadchip for 854 horses. CNVs were detected by three different algorithms, CNVPartition, PennCNV and QuantiSNP. Comparative analysis revealed 50 CNVs that affecte...
[Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in the horse].
Tijdschrift voor diergeneeskunde    July 16, 2013   Volume 138, Issue 6 38-39 
Van Der Kolk H.No abstract available
Equine glaucoma: a histopathologic retrospective study (1999-2012).
Veterinary ophthalmology    July 16, 2013   Volume 17, Issue 5 334-342 doi: 10.1111/vop.12080
Curto EM, Gemensky-Metzler AJ, Chandler HL, Wilkie DA.To characterize and describe the histopathologic findings in equine globes enucleated due to glaucoma. Methods: Medical records at The Ohio State University from 1999 to 2012 were reviewed retrospectively. Signalment, history, and treatment data were collected, and histologic slides of enucleated globes were examined and lesions recorded. Twenty-three eyes from 23 horses were eligible for inclusion in this study. Results: The majority of affected horses were > 15 years of age (65%). The ages ranged from 5 to 35 years (mean = 17.4 years). The left eye was affected in 10 cases (43%) and the righ...
IHH gene polymorphism among three horse breeds and its application for association test in horses with osteochondrosis.
Hereditas    July 8, 2013   Volume 150, Issue 2-3 38-43 doi: 10.1111/j.1601-5223.2013.02282.x
Zabek T, Golonka P, Fornal A, Semik E.Genetic polymorphism of IHH gene were investigated in Angloarabian, Polish Coldblood and Polish Halfbred horses with the inclusion of a group of Polish Halfbreds affected by osteochondrosis. IHH is a good candidate gene for association study of developmental disorders mainly affecting skeleton development. DNA sequence spanning IHH gene annotated in the horse genome and its putative promoter were investigated using SANGER sequencing. Analysis of genetic variability at polymorphic sites in the IHH gene body and the promoter region confirmed genetic differences between warmblood and coldblood ho...
Lawsonia intracellularis infection and proliferative enteropathy in foals.
Veterinary microbiology    July 6, 2013   Volume 167, Issue 1-2 34-41 doi: 10.1016/j.vetmic.2013.06.017
Pusterla N, Gebhart C.Equine proliferative enteropathy (EPE) is a disease of foals caused by the obligate intracellular organism Lawsonia intracellularis. This organism is unique in that it causes proliferation of infected enterocytes, resulting in thickening of the intestinal epithelium, most often the small intestine. This disease affects mainly weanling foals and causes fever, lethargy, peripheral edema, diarrhea, colic and weight loss. The diagnosis of EPE may be challenging and relies on the presence of hypoproteinemia, thickening of segments of the small intestinal wall observed on abdominal ultrasonography, ...
Comparative genome sequencing identifies a prophage-associated genomic island linked to host adaptation of Lawsonia intracellularis infections.
Veterinary research    July 4, 2013   Volume 44, Issue 1 49 doi: 10.1186/1297-9716-44-49
Vannucci FA, Kelley MR, Gebhart CJ.Lawsonia intracellularis is an obligate intracellular bacterium and the causative agent of proliferative enteropathy (PE). The disease is endemic in pigs, emerging in horses and has also been reported in a variety of other animal species, including nonhuman primates. Comparing the whole genome sequences of a homologous porcine L. intracellularis isolate cultivated for 10 and 60 passages in vitro, we identified a 18-kb prophage-associated genomic island in the passage 10 (pathogenic variant) that was lost in the passage 60 (non-pathogenic variant). This chromosomal island comprises 15 genes dow...
The molecular basis for recognition of bacterial ligands at equine TLR2, TLR1 and TLR6.
Veterinary research    July 4, 2013   Volume 44, Issue 1 50 doi: 10.1186/1297-9716-44-50
Irvine KL, Hopkins LJ, Gangloff M, Bryant CE.TLR2 recognises bacterial lipopeptides and lipoteichoic acid, and forms heterodimers with TLR1 or TLR6. TLR2 is relatively well characterised in mice and humans, with published crystal structures of human TLR2/1/Pam3CSK4 and murine TLR2/6/Pam2CSK4. Equine TLR4 is activated by a different panel of ligands to human and murine TLR4, but less is known about species differences at TLR2. We therefore cloned equine TLR2, TLR1 and TLR6, which showed over 80% sequence identity with these receptors from other mammals, and performed a structure-function analysis. TLR2/1 and TLR2/6 from both horses and hu...
Three slight imprecisions in “Illustrated identification keys to strongylid parasites of Equidae” by Lichtenfels et al. (2008).
Veterinary parasitology    July 3, 2013   Volume 197, Issue 1-2 405-406 doi: 10.1016/j.vetpar.2013.06.017
Stancampiano L, Usai F, Pollio G.No abstract available
Differential expression of three members of the multidomain adhesion CCp family in Babesia bigemina, Babesia bovis and Theileria equi.
PloS one    July 3, 2013   Volume 8, Issue 7 e67765 doi: 10.1371/journal.pone.0067765
Bastos RG, Suarez CE, Laughery JM, Johnson WC, Ueti MW, Knowles DP.Members of the CCp protein family have been previously described to be expressed on gametocytes of apicomplexan Plasmodium parasites. Knocking out Plasmodium CCp genes blocks the development of the parasite in the mosquito vector, making the CCp proteins potential targets for the development of a transmission-blocking vaccine. Apicomplexans Babesia bovis and Babesia bigemina are the causative agents of bovine babesiosis, and apicomplexan Theileria equi causes equine piroplasmosis. Bovine babesiosis and equine piroplasmosis are the most economically important parasite diseases that affect world...
Mitochondrial and pedigree analysis in Przewalski’s horse populations: implications for genetic management and reintroductions.
Mitochondrial DNA    July 1, 2013   Volume 25, Issue 4 313-318 doi: 10.3109/19401736.2013.800487
Liu G, Xu CQ, Cao Q, Zimmermann W, Songer M, Zhao SS, Li K, Hu DF.Przewalski's horses have been imported from the western zoos to China since 1985. Yet the genetic diversity in China's populations has not been studied, thus lacking of such knowledge inevitably affects this population's management. The aim of this study was to assess genetic diversity in Chinese population of Przewalski's horses via mitochondrial DNA (mtDNA) control region and pedigree analysis. Methods: Two captive and one reintroduced populations were examined based on mitochondrial DNA control region variation via fecal sampling from 2010 to 2012, together with pedigree analysis. Results: ...
Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse.
Nature    June 26, 2013   Volume 499, Issue 7456 74-78 doi: 10.1038/nature12323
Orlando L, Ginolhac A, Zhang G, Froese D, Albrechtsen A, Stiller M, Schubert M, Cappellini E, Petersen B, Moltke I, Johnson PL, Fumagalli M....The rich fossil record of equids has made them a model for evolutionary processes. Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560-780 thousand years before present (kyr BP). Our data represent the oldest full genome sequence determined so far by almost an order of magnitude. For comparison, we sequenced the genome of a Late Pleistocene horse (43 kyr BP), and modern genomes of five domestic horse breeds (Equus ferus caballus), a Przewalski's horse (E. f. przewalskii) and a donkey (E. asinus). Our analyses suggest that ...