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Topic:Genomics

Genomics in horses involves the study and analysis of the horse genome to understand genetic variations and their implications for equine health, performance, and breeding. This field encompasses the identification and mapping of genes associated with specific traits, diseases, and conditions in horses. Techniques such as whole-genome sequencing and genome-wide association studies (GWAS) are employed to explore genetic diversity and inheritance patterns among different horse breeds. Genomics provides insights into hereditary disorders, informs selective breeding practices, and aids in the development of personalized veterinary care. This page compiles peer-reviewed research studies and scholarly articles that explore the applications, methodologies, and findings of genomic research in equine science.
Discovery of lost diversity of paternal horse lineages using ancient DNA.
Nature communications    August 23, 2011   Volume 2 450 doi: 10.1038/ncomms1447
Lippold S, Knapp M, Kuznetsova T, Leonard JA, Benecke N, Ludwig A, Rasmussen M, Cooper A, Weinstock J, Willerslev E, Shapiro B, Hofreiter M.Modern domestic horses display abundant genetic diversity within female-inherited mitochondrial DNA, but practically no sequence diversity on the male-inherited Y chromosome. Several hypotheses have been proposed to explain this discrepancy, but can only be tested through knowledge of the diversity in both the ancestral (pre-domestication) maternal and paternal lineages. As wild horses are practically extinct, ancient DNA studies offer the only means to assess this ancestral diversity. Here we show considerable ancestral diversity in ancient male horses by sequencing 4 kb of Y chromosomal DNA ...
Genetic characterization of equine adenovirus type 1.
Veterinary microbiology    August 22, 2011   Volume 155, Issue 1 33-37 doi: 10.1016/j.vetmic.2011.08.014
Cavanagh HM, Mahony TJ, Vanniasinkam T.Two known serotypes of equine adenovirus (EAdV), equine adenovirus type 1 (EAdV-1) and equine adenovirus type 2 (EAdV-2) have been isolated from horses. EAdV-1 is predominantly associated with upper respiratory tract infections while EAdV-2 appears to be associated with gastrointestinal infections in horses. In this report the EAdV-1 genome has been sequenced for the first time. The EAdV-1 genome encoded genes are characteristic of the Mastadenovirus genus such as protein V and IX. Unexpectedly, phylogenetic reconstructions also revealed a close relationship between EAdV-1 and two recently cha...
Comparison of genomic and proteomic data in recurrent airway obstruction affected horses using Ingenuity Pathway Analysis®.
BMC veterinary research    August 15, 2011   Volume 7 48 doi: 10.1186/1746-6148-7-48
Racine J, Gerber V, Feutz MM, Riley CP, Adamec J, Swinburne JE, Couetil LL.Recurrent airway obstruction (RAO) is a severe chronic respiratory disease affecting horses worldwide, though mostly in the Northern hemisphere. Environmental as well as genetic factors strongly influence the course and prognosis of the disease. Research has been focused on characterization of immunologic factors contributing to inflammatory responses, on genetic linkage analysis, and, more recently, on proteomic analysis of airway secretions from affected horses. The goal of this study was to investigate the interactions between eight candidate genes previously identified in a genetic linkage...
Isolation and characterization of multipotent mesenchymal stromal cells from the gingiva and the periodontal ligament of the horse.
BMC veterinary research    August 2, 2011   Volume 7 42 doi: 10.1186/1746-6148-7-42
Mensing N, Gasse H, Hambruch N, Haeger JD, Pfarrer C, Staszyk C.The equine periodontium provides tooth support and lifelong tooth eruption on a remarkable scale. These functions require continuous tissue remodeling. It is assumed that multipotent mesenchymal stromal cells (MSC) reside in the periodontal ligament (PDL) and play a crucial role in regulating physiological periodontal tissue regeneration. The aim of this study was to isolate and characterize equine periodontal MSC. Tissue samples were obtained from four healthy horses. Primary cell populations were harvested and cultured from the gingiva, from three horizontal levels of the PDL (apical, midtoo...
True single-molecule DNA sequencing of a pleistocene horse bone.
Genome research    July 29, 2011   Volume 21, Issue 10 1705-1719 doi: 10.1101/gr.122747.111
Orlando L, Ginolhac A, Raghavan M, Vilstrup J, Rasmussen M, Magnussen K, Steinmann KE, Kapranov P, Thompson JF, Zazula G, Froese D, Moltke I....Second-generation sequencing platforms have revolutionized the field of ancient DNA, opening access to complete genomes of past individuals and extinct species. However, these platforms are dependent on library construction and amplification steps that may result in sequences that do not reflect the original DNA template composition. This is particularly true for ancient DNA, where templates have undergone extensive damage post-mortem. Here, we report the results of the first "true single molecule sequencing" of ancient DNA. We generated 115.9 Mb and 76.9 Mb of DNA sequences from a permafrost-...
A massively parallel sequencing approach uncovers ancient origins and high genetic variability of endangered Przewalski’s horses.
Genome biology and evolution    July 29, 2011   Volume 3 1096-1106 doi: 10.1093/gbe/evr067
Goto H, Ryder OA, Fisher AR, Schultz B, Kosakovsky Pond SL, Nekrutenko A, Makova KD.The endangered Przewalski's horse is the closest relative of the domestic horse and is the only true wild horse species surviving today. The question of whether Przewalski's horse is the direct progenitor of domestic horse has been hotly debated. Studies of DNA diversity within Przewalski's horses have been sparse but are urgently needed to ensure their successful reintroduction to the wild. In an attempt to resolve the controversy surrounding the phylogenetic position and genetic diversity of Przewalski's horses, we used massively parallel sequencing technology to decipher the complete mitoch...
Chromosomal assignment of six genes (EIF4G3, HSP90, RBBP6, IL8, TERT, and TERC) in four species of the genus Equus.
Animal biotechnology    July 22, 2011   Volume 22, Issue 3 119-123 doi: 10.1080/10495398.2011.575300
Vidale P, Piras FM, Nergadze SG, Bertoni L, Verini-Supplizi A, Adelson D, Guérin G, Giulotto E.We mapped six genes (EIF4G3, HSP90, RBBP6, IL8, TERT, and TERC) on the chromosomes of Equus caballus, Equus asinus, Equus grevyi, and Equus burchelli by fluorescence in situ hybridization. Our results add six type I markers to the cytogenetic map of these species and provide new information on the comparative genomics of the genus Equus.
Streptococcus equi: a pathogen restricted to one host.
Journal of medical microbiology    July 14, 2011   Volume 60, Issue Pt 9 1231-1240 doi: 10.1099/jmm.0.028233-0
Waller AS, Paillot R, Timoney JF.Strangles caused by the host adapted Lancefield group C Streptococcus equi subspecies equi (S. equi) is a frequently diagnosed infectious disease of horses worldwide. Critical to the global success of S. equi is its ability to establish persistent infections within the guttural pouches of recovered apparently healthy horses that can result in transmission to in-contact animals. Recent research has identified key events in the S. equi genome, which occurred during its evolution from an ancestral strain of S. equi subspecies zooepidemicus, that may enhance its ability to evade host innate immune...
Identification of a mutation associated with fatal Foal Immunodeficiency Syndrome in the Fell and Dales pony.
PLoS genetics    July 7, 2011   Volume 7, Issue 7 e1002133 doi: 10.1371/journal.pgen.1002133
Fox-Clipsham LY, Carter SD, Goodhead I, Hall N, Knottenbelt DC, May PD, Ollier WE, Swinburne JE.The Fell and Dales are rare native UK pony breeds at risk due to falling numbers, in-breeding, and inherited disease. Specifically, the lethal Mendelian recessive disease Foal Immunodeficiency Syndrome (FIS), which manifests as B-lymphocyte immunodeficiency and progressive anemia, is a substantial threat. A significant percentage (∼10%) of the Fell ponies born each year dies from FIS, compromising the long-term survival of this breed. Moreover, the likely spread of FIS into other breeds is of major concern. Indeed, FIS was identified in the Dales pony, a related breed, during the course of t...
Acinetobacter baumannii isolates from pets and horses in Switzerland: molecular characterization and clinical data.
The Journal of antimicrobial chemotherapy    July 6, 2011   Volume 66, Issue 10 2248-2254 doi: 10.1093/jac/dkr289
Endimiani A, Hujer KM, Hujer AM, Bertschy I, Rossano A, Koch C, Gerber V, Francey T, Bonomo RA, Perreten V.We investigated whether Acinetobacter baumannii isolates of veterinary origin shared common molecular characteristics with those described in humans. Methods: Nineteen A. baumannii isolates collected in pets and horses were analysed. Clonality was studied using repetitive extragenic palindromic PCR (rep-PCR) and multilocus sequence typing (MLST). PCR and DNA sequencing for various β-lactamase, aminoglycoside-modifying enzyme, gyrA and parC, ISAba1 and IS1133, adeR and adeS of the AdeABC efflux pump, carO porin and class 1/2/3 integron genes were performed. Results: Two main clones [A (n =â€...
Results of a haplotype-based GWAS for recurrent laryngeal neuropathy in the horse.
Mammalian genome : official journal of the International Mammalian Genome Society    June 23, 2011   Volume 22, Issue 9-10 613-620 doi: 10.1007/s00335-011-9337-3
Dupuis MC, Zhang Z, Druet T, Denoix JM, Charlier C, Lekeux P, Georges M.Recurrent laryngeal neuropathy (RLN) is a major upper-airway disease of horses that causes abnormal respiratory noise during exercise and can impair performance. Etiopathogenesis remains unclear but genetic factors have been suspected for many decades. The objective of this study was to identify risk loci associated with RLN. To that end we genotyped 234 cases (196 Warmbloods, 20 Trotters, 14 Thoroughbreds, and 4 Draft horses), 228 breed-matched controls, and 69 parents with the Illumina Equine SNP50 BeadChip. Using these data, we quantified population structure and performed single-marker and...
Embryonic stem cells and iPS cells: sources and characteristics.
The Veterinary clinics of North America. Equine practice    June 16, 2011   Volume 27, Issue 2 233-242 doi: 10.1016/j.cveq.2011.04.003
Hackett CH, Fortier LA.The field of regenerative medicine research is rapidly expanding. One area of interest to equine researchers is the possibility of isolating or generating pluripotent cells, capable of producing differentiated cell types derived from all 3 primary germ layers. Reports of equine embryonic stem-like (ES) cell isolation can be found in the literature. Other groups are working to produce equine-induced pluripotent stem (iPS) cells. This article summarizes the essential features needed to characterize a cell type as pluripotent, specific challenges in using the horse as a model organism for pluripo...
Size-sieved subpopulations of mesenchymal stem cells from intervascular and perivascular equine umbilical cord matrix.
Cell proliferation    June 6, 2011   Volume 44, Issue 4 330-342 doi: 10.1111/j.1365-2184.2011.00759.x
Corradetti B, Lange-Consiglio A, Barucca M, Cremonesi F, Bizzaro D.Umbilical cord matrix (UCM) has been recently proposed as an alternative source of mesenchymal stem cells (MSCs). The aim of this study was to isolate and characterize presumptive stem cells from intervascular and perivascular equine UCM and to obtain homogeneous subpopulations from both sites. Methods: Umbilical cords were processed for retrieval of MSCs. Unsieved cells from intervascular and perivascular portions were evaluated for cell cycle analysis and for immunophenotyping by flow cytometry. Cells from each site were separated into larger and smaller sieved populations using multi-dishes...
Direct delayed human adenoviral BMP-2 or BMP-6 gene therapy for bone and cartilage regeneration in a pony osteochondral model.
Osteoarthritis and cartilage    June 2, 2011   Volume 19, Issue 8 1066-1075 doi: 10.1016/j.joca.2011.05.007
Menendez MI, Clark DJ, Carlton M, Flanigan DC, Jia G, Sammet S, Weisbrode SE, Knopp MV, Bertone AL.To evaluate healing of surgically created large osteochondral defects in a weight-bearing femoral condyle in response to delayed percutaneous direct injection of adenoviral (Ad) vectors containing coding regions for either human bone morphogenetic proteins 2 (BMP-2) or -6. Methods: Four 13mm diameter and 7mm depth circular osteochondral defects were drilled, 1/femoral condyle (n=20 defects in five ponies). At 2 weeks, Ad-BMP-2, Ad-BMP-6, Ad-green fluorescent protein (GFP), or saline was percutaneously injected into the central drill hole of the defect. Quantitative magnetic resonance imaging (...
Characterization of a full-length endogenous beta-retrovirus, EqERV-beta1, in the genome of the horse (Equus caballus).
Viruses    June 1, 2011   Volume 3, Issue 6 620-628 doi: 10.3390/v3060620
van der Kuyl AC.Information on endogenous retroviruses fixed in the horse (Equus caballus) genome is scarce. The recent availability of a draft sequence of the horse genome enables the detection of such integrated viruses by similarity search. Using translated nucleotide fragments from gamma-, beta-, and delta-retroviral genera for initial searches, a full-length beta-retrovirus genome was retrieved from a horse chromosome 5 contig. The provirus, tentatively named EqERV-beta1 (for the first equine endogenous beta-retrovirus), was 10434 nucleotide (nt) in length with the usual retroviral genome structure of 5'...
Reviewe: Genetics and genomics in equine exercise physiology: an overview of the new applications of molecular biology as positive and negative markers of performance and health.
Equine veterinary journal. Supplement    May 27, 2011   Issue 38 561-568 doi: 10.1111/j.2042-3306.2010.00299.x
Barrey E.Equine breeding selection has been developed by applying quantitative genetic methods for calculating the heritability of the complex traits such as performance in racing or sport competitions. With the great development of biotechnologies, equine molecular genetics has come of age. The recent sequencing of the equine genome by an international consortium was a major advance that will impact equine genomics in the near future. With the rapid progress in equine genetics, new applications in early performance evaluation and the detection of disease markers become available. Many new biomolecular...
Association of sequence variants in CKM (creatine kinase, muscle) and COX4I2 (cytochrome c oxidase, subunit 4, isoform 2) genes with racing performance in Thoroughbred horses.
Equine veterinary journal. Supplement    May 27, 2011   Issue 38 569-575 doi: 10.1111/j.2042-3306.2010.00181.x
Gu J, MacHugh DE, McGivney BA, Park SD, Katz LM, Hill EW.The wild progenitors of the domestic horse were subject to natural selection for speed and stamina for millennia. Uniquely, this process has been augmented in Thoroughbreds, which have undergone at least 3 centuries of intense artificial selection for athletic phenotypes. While the phenotypic adaptations to exercise are well described, only a small number of the underlying genetic variants contributing to these phenotypes have been reported. Objective: A panel of candidate performance-related genes was examined for DNA sequence variation in Thoroughbreds and the association with racecourse per...
Muscular microRNA expressions in healthy and myopathic horses suffering from polysaccharide storage myopathy or recurrent exertional rhabdomyolysis.
Equine veterinary journal. Supplement    May 27, 2011   Issue 38 303-310 doi: 10.1111/j.2042-3306.2010.00267.x
Barrey E, Bonnamy B, Barrey EJ, Mata X, Chaffaux S, Guerin G.MicroRNAs (miRNA) are small endogenous noncoding interfering RNA molecules (18-25 nucleotides) regarded as major regulators in eukaryotic gene expression. They play a role in developmental timing, cellular differentiation, signalling and apoptosis pathways. Because of the central function of miRNAs in the proliferation and differentiation of the myoblasts demonstrated in mouse and man, it is assumed that they could be present in equine muscles and their expression profile may be related to the muscle status. Objective: To identify miRNA candidates in the muscles of control and affected horses ...
Genetic diversity in an indigenous horse breed: implications for mating strategies and the control of future inbreeding.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    May 18, 2011   Volume 128, Issue 5 394-406 doi: 10.1111/j.1439-0388.2011.00932.x
Hasler H, Flury C, Menet S, Haase B, Leeb T, Simianer H, Poncet PA, Rieder S.The Franches-Montagnes is an indigenous Swiss horse breed, with approximately 2500 foalings per year. The stud book is closed, and no introgression from other horse breeds was conducted since 1998. Since 2006, breeding values for 43 different traits (conformation, performance and coat colour) are estimated with a best linear unbiased prediction (BLUP) multiple trait animal model. In this study, we evaluated the genetic diversity for the breeding population, considering the years from 2003 to 2008. Only horses with at least one progeny during that time span were included. Results were obtained ...
Adaptive molecular evolution of the Major Histocompatibility Complex genes, DRA and DQA, in the genus Equus.
BMC evolutionary biology    May 18, 2011   Volume 11 128 doi: 10.1186/1471-2148-11-128
Kamath PL, Getz WM.Major Histocompatibility Complex (MHC) genes are central to vertebrate immune response and are believed to be under balancing selection by pathogens. This hypothesis has been supported by observations of extremely high polymorphism, elevated nonsynonymous to synonymous base pair substitution rates and trans-species polymorphisms at these loci. In equids, the organization and variability of this gene family has been described, however the full extent of diversity and selection is unknown. As selection is not expected to act uniformly on a functional gene, maximum likelihood codon-based models o...
Age-related changes in genomic stability of horses.
Mechanisms of ageing and development    April 30, 2011   Volume 132, Issue 5 257-268 doi: 10.1016/j.mad.2011.04.009
Wnuk M, Bugno-Poniewierska M, Lewinska A, Oklejewicz B, Zabek T, Bartosz G, Słota E.Recently, the old horse has been proposed as a model to study telomere-dependent senescence, immunosenescence and inflamm-aging. In the present paper, we used 80 Hucul and Anglo-Arabian horses divided into 3 age groups (juvenile, adult, old) to evaluate age-dependent changes at the genomic and DNA level and in cell proliferative potential. The level of positive TUNEL cells (both apoptotic and with DNA fragmentation), oxidative DNA damage (8-oxoG immunostaining), sister chromatid exchange and bleomycin-induced chromatid breaks were significantly increased in the combined old group compared to t...
Genetic test for FIS hailed a success.
The Veterinary record    April 19, 2011   Volume 168, Issue 10 257 doi: 10.1136/vr.d1453
No abstract available
A cohort study of racing performance in Japanese Thoroughbred racehorses using genome information on ECA18.
Animal genetics    April 19, 2011   Volume 43, Issue 1 42-52 doi: 10.1111/j.1365-2052.2011.02201.x
Tozaki T, Hill EW, Hirota K, Kakoi H, Gawahara H, Miyake T, Sugita S, Hasegawa T, Ishida N, Nakano Y, Kurosawa M.Using 1710 Thoroughbred racehorses in Japan, a cohort study was performed to evaluate the influence of genotypes at four single nucleotide polymorphisms (SNPs) on equine chromosome 18 (ECA18), which were associated in a previous genome-wide association study for racing performance with lifetime earnings and performance rank. In males, both g.65809482T>C and g.65868604G>T were related to performance rank (P= 0.005). In females, g.65809482T>C (P = 1.76E-6), g.65868604G>T (P=6.81E-6) and g.66493737C>T (P=4.42E-5) were strongly related to performance rank and also to lifetime ...
Expression stability of putative reference genes in equine endometrial, testicular, and conceptus tissues.
BMC research notes    April 12, 2011   Volume 4 120 doi: 10.1186/1756-0500-4-120
Klein C, Rutllant J, Troedsson MH.Quantitative RT-PCR data are commonly normalized using a reference gene. A reference gene is a transcript which expression does not differ in the tissue of interest independent of the experimental condition. The objective of this study was to evaluate the stability of mRNA expression levels of putative reference genes in three different types of equine tissue, endometrial, testicular, and conceptus tissue. Results: The expression stability of four (uterine tissue) and six (testicular and conceptus tissue) was assessed using descriptive data analysis and the software programs Normfinder and geN...
Genomic structure and expression analyses of the PYGM gene in the thoroughbred horse.
Zoological science    April 7, 2011   Volume 28, Issue 4 276-280 doi: 10.2108/zsj.28.276
Nam GH, Ahn K, Bae JH, Han K, Lee CE, Park KD, Lee SH, Cho BW, Kim HS.Muscle glycogen Phosphorylase (PYGM) has been shown to catalyze the degradation of glycogen to glucose-1-phosphate. The PYGM gene can contribute to providing energy to the body by disassembling the glycogen in muscle. Here, we analyzed the genomic structure and expression of the PYGM gene in the thoroughbred horse. The PYGM gene, containing several transposable elements (MIRs, LINEs, and MERs), was highly conserved in mammalian genomes. In order to understand the expression of the horse PYGM gene, we performed quantitative RT-PCR using 11 thoroughbred horse tissue samples. The horse PYGM gene ...
European domestic horses originated in two holocene refugia.
PloS one    March 30, 2011   Volume 6, Issue 3 e18194 doi: 10.1371/journal.pone.0018194
Warmuth V, Eriksson A, Bower MA, Cañon J, Cothran G, Distl O, Glowatzki-Mullis ML, Hunt H, Luís C, do Mar Oom M, Yupanqui IT, Ząbek T, Manica A.The role of European wild horses in horse domestication is poorly understood. While the fossil record for wild horses in Europe prior to horse domestication is scarce, there have been suggestions that wild populations from various European regions might have contributed to the gene pool of domestic horses. To distinguish between regions where domestic populations are mainly descended from local wild stock and those where horses were largely imported, we investigated patterns of genetic diversity in 24 European horse breeds typed at 12 microsatellite loci. The distribution of high levels of gen...
Genome-scale evolution and phylodynamics of equine H3N8 influenza A virus.
Journal of virology    March 23, 2011   Volume 85, Issue 11 5312-5322 doi: 10.1128/JVI.02619-10
Murcia PR, Wood JL, Holmes EC.Equine influenza viruses (EIVs) of the H3N8 and H7N7 subtypes are the causative agents of an important disease of horses. While EIV H7N7 apparently is extinct, H3N8 viruses have circulated for more than 50 years. Like human influenza viruses, EIV H3N8 caused a transcontinental pandemic followed by further outbreaks and epidemics, even in populations with high vaccination coverage. Recently, EIV H3N8 jumped the species barrier to infect dogs. Despite its importance as an agent of infectious disease, the mechanisms that underpin the evolutionary and epidemiological dynamics of EIV are poorly und...
Molecular evolution of the six internal genes of H5N1 equine influenza A virus.
Archives of virology    March 23, 2011   Volume 156, Issue 7 1257-1262 doi: 10.1007/s00705-011-0966-3
Abdel-Moneim AS, Shehab GM, Abu-Elsaad AA.Phylogenetic and evolutionary patterns of the six internal genes of an equine H5N1 influenza A virus isolated in Egypt on 2009 were analyzed using direct sequencing. All of the internal genes of the equine H5N1 strain showed a genetic pattern potentially related to Eurasian lineages. Variable dendrogram topologies revealed an absence of reassortment in the equine strain while confirming its close relatedness to other Egyptian H5N1 strains from human and avian species. The equine strain is characterized by a variety of amino acid substitutions in six internal proteins compared to the available ...
Comparative evolutionary analyses of beta globin gene in eutherian, dinosaurian and neopterygii taxa.
Journal of vector borne diseases    March 17, 2011   Volume 48, Issue 1 27-36 
Awasthi G, Srivastava G, Das A.Comparative genomics and evolutionary analyses of conserved genes have enabled us to understand the complexity of genomes of closely related species. For example: β-globin gene present in human hemoglobin is one such gene that has experienced many genetic changes in many related taxa and produced more than 600 variants. One of the variant, HBS causes sickle-cell anemia in humans but offers protection against severe malaria due to Plasmodium falciparum. In the present study, we characterized and performed evolutionary comparative analyses of the ?-globin gene in different related and unrelated...
Five novel KIT mutations in horses with white coat colour phenotypes.
Animal genetics    February 23, 2011   Volume 42, Issue 3 337-339 doi: 10.1111/j.1365-2052.2011.02173.x
Haase B, Rieder S, Tozaki T, Hasegawa T, Penedo MC, Jude R, Leeb T.No abstract available
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