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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.
Equine Mesenchymal Stromal Cells Retain a Pericyte-Like Phenotype.
Stem cells and development    May 9, 2017   Volume 26, Issue 13 964-972 doi: 10.1089/scd.2017.0017
Esteves CL, Sheldrake TA, Dawson L, Menghini T, Rink BE, Amilon K, Khan N, Péault B, Donadeu FX.Mesenchymal stem/stromal cells (MSCs) have been used in human and equine regenerative medicine, and interest in exploiting their potential has increased dramatically over the years. Despite significant effort to characterize equine MSCs, the actual origin of these cells and how much of their native phenotype is maintained in culture have not been determined. In this study, we investigated the relationship between MSCs, derived from adipose tissue (AT) and bone marrow (BM), and pericytes in the horse. Both pericyte (CD146, NG2, and αSMA) and MSC (CD29, CD90, and CD73) markers were detected in ...
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
International journal of cancer    May 8, 2017   Volume 141, Issue 2 342-353 doi: 10.1002/ijc.30744
Bellone RR, Liu J, Petersen JL, Mack M, Singer-Berk M, Drögemüller C, Malvick J, Wallner B, Brem G, Penedo MC, Lassaline M.Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0.04). Sequencing the most physiologicall...
Acute leukemia in six horses (1990-2012). Barrell EA, Asakawa MG, Felippe MJB, Divers TJ, Stokol T.Acute leukemia is rare in horses. Herein we describe historical, clinicopathologic, and postmortem findings in 6 horses with acute leukemia. Medical records of horses with >20% bone marrow blasts and cytochemical or immunophenotyping results were reviewed. Affected horses were 2-8 y of age and of different breeds and sex. Horses were presented acutely with nonspecific signs (e.g., fever, lethargy). Characteristic hemogram findings were bi- or pancytopenia with low blast numbers. Histologic examination revealed extramedullary infiltrates, especially in lymph nodes, spleen, kidney, liver, and lu...
Nationwide molecular epidemiology of methicillin-resistant Staphylococcus aureus responsible for horse infections in France.
BMC microbiology    May 3, 2017   Volume 17, Issue 1 104 doi: 10.1186/s12866-016-0924-z
Guérin F, Fines-Guyon M, Meignen P, Delente G, Fondrinier C, Bourdon N, Cattoir V, Léon A.The epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) isolated in horse infections is not well documented, especially in France. The aim of the study was to evaluate the prevalence of MRSA isolates in horse infections from 2007 to 2013 in France and to characterize phenotypically and genotypically this collection. Out of 1393 S. aureus horse isolates, 85 (6.1%) were confirmed to be MRSA. Interestingly, the prevalence of MRSA significantly increased from 2007-2009 to 2010-2013 (0.7 vs. 9.5%, P <0.0001). Resistance to methicillin was due to the presence of the mecA gene in 84 st...
Equine papillomavirus type 2: An equine equivalent to human papillomavirus 16?
Veterinary journal (London, England : 1997)    May 3, 2017   Volume 225 3-8 doi: 10.1016/j.tvjl.2017.04.014
Sykora S, Jindra C, Hofer M, Steinborn R, Brandt S.In horses, squamous cell carcinomas (SCC) commonly affect the external genitals. There is growing evidence that equine papillomavirus type 2 (EcPV2) infection promotes disease development. To assess the possible association of EcPV2 with equine SCCs of the head (HSCC), 15 HSCC DNA samples were screened by E6/E7, E2, and LCR PCR and amplicons were analysed for sequence variations. The physical form of EcPV2 in HSCC, genital lesions, and smegma from horses with SCC was then addressed using EcPV2 immunocapture PCR (IC/PCR) for detection of virion, and E6 vs. E2 qPCR to investigate possible integr...
Nonsynonymous changes of equine lentivirus receptor-1 (ELR1) gene in amino acids involved in the interaction with equine infectious anemia virus (EIAV).
Research in veterinary science    May 2, 2017   Volume 112 185-191 doi: 10.1016/j.rvsc.2017.05.001
Equine lentivirus receptor-1 (ELR1) has been characterized as the specific functional receptor that mediates equine infectious anemia virus (EIAV) entrance to horse macrophages. This receptor is tumor necrosis factor receptor superfamily member 14 (TNFRSF14). The aim of this study was to investigate the occurrence of allelic variants in the coding sequence of equine TNFRSF14 gene by screening for single-nucleotide polymorphisms (SNPs) in different equine populations. Forty seven horse samples were randomly selected from a reservoir of EIAV-seropositive and seronegative samples collected from d...
Ancient genomic changes associated with domestication of the horse.
Science (New York, N.Y.)    April 30, 2017   Volume 356, Issue 6336 442-445 doi: 10.1126/science.aam5298
Librado P, Gamba C, Gaunitz C, Der Sarkissian C, Pruvost M, Albrechtsen A, Fages A, Khan N, Schubert M, Jagannathan V, Serres-Armero A, Kuderna LFK....The genomic changes underlying both early and late stages of horse domestication remain largely unknown. We examined the genomes of 14 early domestic horses from the Bronze and Iron Ages, dating to between ~4.1 and 2.3 thousand years before present. We find early domestication selection patterns supporting the neural crest hypothesis, which provides a unified developmental origin for common domestic traits. Within the past 2.3 thousand years, horses lost genetic diversity and archaic DNA tracts introgressed from a now-extinct lineage. They accumulated deleterious mutations later than expected ...
Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses.
The Journal of heredity    April 30, 2017   Volume 108, Issue 5 505-514 doi: 10.1093/jhered/esx039
Druml T, Grilz-Seger G, Neuditschko M, Neuhauser B, Brem G.Genetic analyses of coat colors are frequently restricted to subjectively categorized phenotype information. The aim of this study was to develop a method to numerically quantify the variability of leopard complex (LP) spotting phenotypes introducing tools from image analysis. Generalized Procrustes analysis eliminates systematic errors due to imaging process. The binarization of normalized images and the application of principal component analysis (PCA) on the derived pixel matrices, transform pixel information into numerical data space. We applied these methods on 90 images to ascertain the ...
Molecular confirmation of Sarcocystis fayeri in a donkey.
Veterinary parasitology    April 29, 2017   Volume 240 30-33 doi: 10.1016/j.vetpar.2017.04.026
Coultous RM, Raftery AG, Shiels BR, Sutton DGM, Weir W.Sarcocystis fayeri is a canine protozoan parasite with an equine intermediate host. Historically classified as an incidental pathogen, recent literature has described the toxic effects of Sarcocystis fayeri in human food poisoning, and highlighted potential involvement in equine neuromuscular disease. Until now, horses were believed to be the exclusive intermediate host. This study reports the first molecular confirmation of S. fayeri in a donkey, and gives rise to the consideration of donkeys being a potential reservoir for the parasite. This finding is of particular importance in understandi...
Effects of FSH addition to an enriched medium containing insulin and EGF after long-term culture on functionality of equine ovarian biopsy tissue.
Theriogenology    April 28, 2017   Volume 99 124-133 doi: 10.1016/j.theriogenology.2017.04.045
Aguiar FLN, Gastal GDA, Ishak GM, Gastal MO, Teixeira DIA, Feugang JM, Figueiredo JR, Gastal EL.The effect of FSH supplementation on an enriched cultured medium containing insulin (10 ng/mL) and EGF (50 ng/mL) was investigated on in vitro culture of equine ovarian biopsy tissue. Ovarian tissue fragments were collected from mares (n = 10) and distributed in the following treatments: noncultured control, cultured control, and cultured + FSH. Both treated groups were cultured for 7 or 15 days. The end points evaluated were: follicular morphology, estradiol levels in the culture medium, fluorescence intensity for TUNEL, EGFR and Ki-67 detection, and gene expression of GDF-9, BMP-15, a...
Preantral follicle density in ovarian biopsy fragments and effects of mare age.
Reproduction, fertility, and development    April 27, 2017   Volume 29, Issue 5 867-875 doi: 10.1071/RD15402
Alves KA, Alves BG, Gastal GDA, Haag KT, Gastal MO, Figueiredo JR, Gambarini ML, Gastal EL.The aims of the present study were to: (1) evaluate preantral follicle density in ovarian biopsy fragments within and among mares; (2) assess the effects of mare age on the density and quality of preantral follicles; and (3) determine the minimum number of ovarian fragments and histological sections needed to estimate equine follicle density using a mathematical model. The ovarian biopsy pick-up method was used in three groups of mares separated according to age (5-6, 7-10 and 11-16 years). Overall, 336 preantral follicles were recorded with a mean follicle density of 3.7 follicles per cm. Fol...
Genetic characterization of equid herpesvirus type 1 from cases of abortion in Poland.
Archives of virology    April 27, 2017   Volume 162, Issue 8 2329-2335 doi: 10.1007/s00705-017-3376-3
Stasiak K, Dunowska M, Hills SF, Rola J.Equid herpesvirus type 1 (EHV-1) is a common viral infection associated with varied clinical outcomes including respiratory disease, abortion and neurological disease. We have characterized EHV-1 sequences (n = 38) obtained from cases of equine abortion in Poland between 1999 and 2016, based on sequencing of PCR products from open reading frames (ORF) 30 and 68 of the EHV-1 genome. The majority (81.6%) of sequences were not classified into any of the previously described groups based on the ORF68 sequence. The remaining sequences belonged to ORF68 group III (7.9%) or IV (10.5%). A haplotype ne...
Application of Genomic Estimation Methods of Inbreeding and Population Structure in an Arabian Horse Herd.
The Journal of heredity    April 27, 2017   Volume 108, Issue 4 361-368 doi: 10.1093/jhered/esx025
Al Abri MA, König von Borstel U, Strecker V, Brooks SA.Horse breeders rely heavily on pedigrees for identification of ancestry in breeding stock. Inaccurate pedigrees may erroneously assign individuals to false lineages or breed memberships resulting in wrong estimates of inbreeding and coancestry. Moreover, discrepancies in pedigree records can lead breeders seeking to limit inbreeding into making misguided breeding decisions. Genome-wide SNPs provide a quantitative tool to aid in the resolution of lineage assignments and the calculation of genomic measures of relatedness. The aim of this project was to pilot a comparison between pedigree and gen...
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.
Animal genetics    April 26, 2017   Volume 48, Issue 4 483-485 doi: 10.1111/age.12556
Dürig N, Jude R, Holl H, Brooks SA, Lafayette C, Jagannathan V, Leeb T.White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For the present study, we re-investigated a large horse family segregating a variable white spotting phenotype, for which conventional Sanger sequencing of the candidate genes' individual exons had failed to reveal the causative variant. We obtained whole genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes. This...
Complete mitochondrial genome sequences of Korean native horse from Jeju Island: uncovering the spatio-temporal dynamics.
Molecular biology reports    April 21, 2017   Volume 44, Issue 2 233-242 doi: 10.1007/s11033-017-4101-8
Yoon SH, Kim J, Shin D, Cho S, Kwak W, Lee HK, Park KD, Kim H.The Korean native horse (Jeju horse) is one of the most important animals in Korean historical, cultural, and economical viewpoints. In the early 1980s, the Jeju horse was close to extinction. The aim of this study is to explore the phylogenomics of Korean native horse focusing on spatio-temporal dynamics. We determined complete mitochondrial genome sequences for the first Korean native (n = 6) and additional Mongolian (n = 2) horses. Those sequences were analyzed together with 143 published ones using Bayesian coalescent approach as well as three different phylogenetic analysis method...
The relationship between the variants in the 5′-untranslated regions of equine chorionic gonadotropin genes and serum equine chorionic gonadotropin levels.
Asian-Australasian journal of animal sciences    April 19, 2017   Volume 30, Issue 12 1679-1683 doi: 10.5713/ajas.17.0133
Liu S, Lian S, Yang Y, Fu C, Ma H, Xiong Z, Ling Y, Zhao C.An experiment was conducted to study the association between the single nucleotide polymorphisms (SNPs) in 5'-untranslated regions (5'-UTR) of equine chorionic gonadotropin (eCG) genes and the serum eCG levels. Methods: SNPs in 5'-UTR of eCG genes were screened across 10 horse breeds, including 7 Chinese indigenous breeds and 3 imported breeds using iPLEX chemistry, and the association between the serum eCG levels of 174 pregnant Da'an mares and their serum eCG levels (determined with ELISA) was analyzed. Results: Four SNPs were identified in the 5'-UTR of the eCGα gene, and one of them was u...
Isolation and characterization of equine native MSC populations.
Stem cell research & therapy    April 18, 2017   Volume 8, Issue 1 80 doi: 10.1186/s13287-017-0525-2
Esteves CL, Sheldrake TA, Mesquita SP, Pesántez JJ, Menghini T, Dawson L, Péault B, Donadeu FX.In contrast to humans in which mesenchymal stem/stromal cell (MSC) therapies are still largely in the clinical trial phase, MSCs have been used therapeutically in horses for over 15 years, thus constituting a valuable preclinical model for humans. In human tissues, MSCs have been shown to originate from perivascular cells, namely pericytes and adventitial cells, which are identified by the presence of the cell surface markers CD146 and CD34, respectively. In contrast, the origin of MSCs in equine tissues has not been established, preventing the isolation and culture of defined cell population...
The establishment of in vitro culture and drug screening systems for a newly isolated strain of Trypanosoma equiperdum.
International journal for parasitology. Drugs and drug resistance    April 13, 2017   Volume 7, Issue 2 200-205 doi: 10.1016/j.ijpddr.2017.04.002
Suganuma K, Yamasaki S, Molefe NI, Musinguzi PS, Davaasuren B, Mossaad E, Narantsatsral S, Battur B, Battsetseg B, Inoue N.Dourine is caused by Trypanosoma equiperdum via coitus with an infected horse. Although dourine is distributed in Equidae worldwide and is listed as an internationally important animal disease by the World Organization for Animal Health (OIE), no effective treatment strategies have been established. In addition, there are no reports on drug discovery, because no drug screening system exists for this parasite. A new T. equiperdum strain was recently isolated from the genital organ of a stallion that showed typical symptoms of dourine. In the present study, we adapted T. equiperdum IVM-t1 from...
Influence of long-term equine herpesvirus type 1 (EHV-1) infection on primary murine neurons-the possible effects of the multiple passages of EHV-1 on its neurovirulence.
Folia microbiologica    April 13, 2017   Volume 63, Issue 1 1-11 doi: 10.1007/s12223-017-0528-5
Cymerys J, Słońska A, Tucholska A, Golke A, Chmielewska A, Bańbura MW.Equine herpesvirus 1 (EHV-1), like other members of the Alphaherpesvirinae subfamily, is a neurotropic virus causing latent infections in the nervous system of the natural host. In the present study, we have investigated EHV-1 replication (wild-type Jan-E strain and Rac-H laboratory strain) during long-term infection and during the passages of the virus in cultured neurons. The studies were performed on primary murine neurons, which are an excellent in vitro model for studying neurotropism and neurovirulence of EHV-1. Using real-time cell growth analysis, we have demonstrated for the first tim...
Electrophilic aldehyde products of lipid peroxidation selectively adduct to heat shock protein 90 and arylsulfatase A in stallion spermatozoa.
Biology of reproduction    April 11, 2017   Volume 96, Issue 1 107-121 doi: 10.1095/biolreprod.116.145292
Hall SE, Aitken RJ, Nixon B, Smith ND, Gibb Z.Oxidative stress is a major determinant of mammalian sperm function stimulating lipid peroxidation cascades that culminate in the generation of potentially cytotoxic aldehydes. The aim of this study was to assess the impact of such aldehydes on the functionality of stallion spermatozoa. The impact of exposure to exogenous acrolein (ACR) and 4-hydroxynonenal (4HNE) was manifested in a highly significant dose- and time-dependent increase in mitochondrial reactive oxygen species (ROS), total cellular ROS, a decrease in sperm motility, and a time-dependent increase in lipid peroxidation. Notably, ...
Science-in-brief: Clinical highlights from 50th Congress of the South African Equine Veterinary Association 2017.
Equine veterinary journal    April 8, 2017   Volume 49, Issue 3 266-268 doi: 10.1111/evj.12678
Miller SM, Spargo KE.No abstract available
Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse.
Journal of animal science    April 6, 2017   Volume 95, Issue 3 1071-1079 doi: 10.2527/jas.2016.1221
Lewis SL, Holl HM, Streeter C, Posbergh C, Schanbacher BJ, Place NJ, Mallicote MF, Long MT, Brooks SA.Equine obesity can cause life-threatening secondary chronic conditions, similar to those in humans and other animal species. Equine metabolic syndrome (EMS), primarily characterized by hyperinsulinemia, is often present in obese horses and ponies. Due to clinical similarities to conditions such as pituitary pars intermedia dysfunction (formerly equine Cushing's disease), conclusive diagnosis of EMS often proves challenging. Aside from changes in diet and exercise, few targeted treatments are available for EMS, emphasizing the need for early identification of at-risk individuals to enable imple...
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes.
Animal genetics    April 5, 2017   Volume 48, Issue 4 497-498 doi: 10.1111/age.12554
Holl HM, Brooks SA, Carpenter ML, Bustamante CD, Lafayette C.No abstract available
Transcriptome profiling of Arabian horse blood during training regimens.
BMC genetics    April 5, 2017   Volume 18, Issue 1 31 doi: 10.1186/s12863-017-0499-1
Ropka-Molik K, Stefaniuk-Szmukier M, Żukowski K, Piórkowska K, Gurgul A, Bugno-Poniewierska M.Arabian horses are believed to be one of the oldest and most influential horse breeds in the world. Blood is the main tissue involved in maintaining body homeostasis, and it is considered a marker of the processes taking place in the other tissues. Thus, the aim of our study was to identify the genetic basis of changes occurring in the blood of Arabian horses subjected to a training regimen and to compare the global gene expression profiles between different training periods (T: after a slow canter phase that is considered a conditioning phase, T: after an intense gallop phase, and T: at the e...
Detecting taxonomic and phylogenetic signals in equid cheek teeth: towards new palaeontological and archaeological proxies.
Royal Society open science    April 5, 2017   Volume 4, Issue 4 160997 doi: 10.1098/rsos.160997
Cucchi T, Mohaseb A, Peigné S, Debue K, Orlando L, Mashkour M.The Plio-Pleistocene evolution of and the subsequent domestication of horses and donkeys remains poorly understood, due to the lack of phenotypic markers capable of tracing this evolutionary process in the palaeontological/archaeological record. Using images from 345 specimens, encompassing 15 extant taxa of equids, we quantified the occlusal enamel folding pattern in four mandibular cheek teeth with a single geometric morphometric protocol. We initially investigated the protocol accuracy by assigning each tooth to its correct anatomical position and taxonomic group. We then contrasted the ph...
Immunogenicity of phospholipase A2 toxins and their role in Streptococcus equi pathogenicity.
Veterinary microbiology    April 4, 2017   Volume 204 15-19 doi: 10.1016/j.vetmic.2017.04.002
López-Álvarez MR, Salze M, Cenier A, Robinson C, Paillot R, Waller AS.Streptococcus equi subsp. equi (S. equi) is the causative agent of strangles, one of the most frequently diagnosed infectious diseases of horses worldwide. Phospholipase A toxins (PLA) cleave phospholipid molecules at position sn-2 contributing to the production of leukotrienes that are important inflammatory mediators. Two homologous phospholipases, SlaA and SlaB are encoded by the S. equi genome suggesting that PLA toxins may contribute to its pathogenicity. Here we report the immunogenicity and role of PLA toxins during natural and experimental infection of horses with S. equi. The levels o...
Horses in Denmark Are a Reservoir of Diverse Clones of Methicillin-Resistant and -Susceptible Staphylococcus aureus.
Frontiers in microbiology    April 3, 2017   Volume 8 543 doi: 10.3389/fmicb.2017.00543
Islam MZ, Espinosa-Gongora C, Damborg P, Sieber RN, Munk R, Husted L, Moodley A, Skov R, Larsen J, Guardabassi L.Denmark is a country with high prevalence of livestock-associated methicillin-resistant Staphylococcus aureus (MRSA) clonal complex (CC) 398 in pigs. Even though pig farming is regarded as the main source of human infection or colonization with MRSA CC398, 10-15% of the human cases appear not to be linked to pigs. Following the recent reports of MRSA CC398 in horses in other European countries and the lack of knowledge on S. aureus carriage in this animal species, we carried out a study to investigate whether horses constitute a reservoir of MRSA CC398 in Denmark, and to gain knowledge on the ...
A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.
G3 (Bethesda, Md.)    April 3, 2017   Volume 7, Issue 4 1315-1321 doi: 10.1534/g3.117.039511
Bauer A, Hiemesch T, Jagannathan V, Neuditschko M, Bachmann I, Rieder S, Mikko S, Penedo MC, Tarasova N, Vitková M, Sirtori N, Roccabianca P, Leeb T....Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome. Whole genome sequencing of two affected horses, two obligate carriers, and...
Genomic structure of the horse major histocompatibility complex class II region resolved using PacBio long-read sequencing technology.
Scientific reports    March 31, 2017   Volume 7 45518 doi: 10.1038/srep45518
Viļuma A, Mikko S, Hahn D, Skow L, Andersson G, Bergström TF.The mammalian Major Histocompatibility Complex (MHC) region contains several gene families characterized by highly polymorphic loci with extensive nucleotide diversity, copy number variation of paralogous genes, and long repetitive sequences. This structural complexity has made it difficult to construct a reliable reference sequence of the horse MHC region. In this study, we used long-read single molecule, real-time (SMRT) sequencing technology from Pacific Biosciences (PacBio) to sequence eight Bacterial Artificial Chromosome (BAC) clones spanning the horse MHC class II region. The final asse...
Managing anthelmintic resistance in Parascaris spp.: A modelling exercise.
Veterinary parasitology    March 30, 2017   Volume 240 75-81 doi: 10.1016/j.vetpar.2017.03.026
Leathwick DM, Sauermann CW, Geurden T, Nielsen MK.A previously described model for the dynamics of the parasitic stages of Parascaris spp. was modified to include eggs outside the host and the genetics of anthelmintic resistance before being used to address questions regarding the development of resistance. Three broad questions were addressed; i) How sustainable is the current common practice of treating foals monthly for their first year of life (i.e. 12 treatments/year)? ii) Does the timing of treatments have an effect on resistance development? (i.e. do certain treatments select for resistance more strongly than others?), and iii) How sus...
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