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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.
The cloned equine thyrotropin receptor is hypersensitive to human chorionic gonadotropin; identification of three residues in the extracellular domain involved in ligand specificity.
Endocrinology    June 5, 2008   Volume 149, Issue 10 5088-5096 doi: 10.1210/en.2008-0423
Royer J, Lefevre-Minisini A, Caltabiano G, Lacombe T, Malthiery Y, Savagner F, Pardo L, Rodien P.The receptors for TSH, LH/chorionic gonadotropin (CG), and FSH belong to the same subfamily of G protein-coupled receptors. The specificity of recognition of their cognate hormone involves a limited number of residues in the leucine-rich repeats present in the N-terminal ectodomain of the receptor. It is admitted that receptors of this subfamily coevoluted with their respective ligands. The secretion of CG is restricted to gestation of primates and Equidae. We hypothesized that, facing the challenge of a new hormone, the glycoprotein hormone receptors would have evolved differently in Equidae ...
Concerted evolution of vertebrate CCR2 and CCR5 genes and the origin of a recombinant equine CCR5/2 gene.
The Journal of heredity    May 22, 2008   Volume 99, Issue 5 500-511 doi: 10.1093/jhered/esn029
Perelygin AA, Zharkikh AA, Astakhova NM, Lear TL, Brinton MA.Chemokine receptors (CCRs) play an essential role in the initiation of an innate immune host response. Several of these receptors have been shown to modulate the outcome of viral infections. The recent availability of complete genome sequences from a number of species provides a unique opportunity to analyze the evolution of the CCR genes. A phylogenetic analysis revealed that the CCR2 gene evolved in concert with the paralogous CCR5 gene, but not with another paralogous gene, CCR3, in the opossum, platypus, rabbit, guinea pig, cat, and rodent lineages. In addition, evidence of concerted evolu...
Equine diseases caused by known genetic mutations.
Veterinary journal (London, England : 1997)    May 9, 2008   Volume 179, Issue 3 336-347 doi: 10.1016/j.tvjl.2008.03.016
Finno CJ, Spier SJ, Valberg SJ.The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known, including hyperkalemic periodic paralysis, severe combined immunodeficiency, overo lethal white syndrome, junctional epidermolysis bullosa, glycogen branching enzyme deficiency, malignant hyperthermia, hereditary equine regional dermal asthenia, and polysaccharide storage myopathy. Emphasis is placed...
A BAC contig map over the proximal approximately 3.3 Mb region of horse chromosome 21.
Cytogenetic and genome research    April 30, 2008   Volume 120, Issue 1-2 164-172 doi: 10.1159/000118758
Brinkmeyer-Langford C, Raudsepp T, Gustafson-Seabury A, Chowdhary BP.A total of 207 BAC clones containing 155 loci were isolated and arranged into a map of linearly ordered overlapping clones over the proximal part of horse chromosome 21 (ECA21), which corresponds to the proximal half of the short arm of human chromosome 19 (HSA19p) and part of HSA5. The clones form two contigs - each corresponding to the respective human chromosomes - that are estimated to be separated by a gap of approximately 200 kb. Of the 155 markers present in the two contigs, 141 (33 genes and 108 STS) were generated and mapped in this study. The BACs provide a 4-5x coverage of the regio...
Characterization of clinically-attenuated Burkholderia mallei by whole genome sequencing: candidate strain for exclusion from Select Agent lists.
PloS one    April 30, 2008   Volume 3, Issue 4 e2058 doi: 10.1371/journal.pone.0002058
Schutzer SE, Schlater LR, Ronning CM, DeShazer D, Luft BJ, Dunn JJ, Ravel J, Fraser-Liggett CM, Nierman WC.Burkholderia mallei is an understudied biothreat agent responsible for glanders which can be lethal in humans and animals. Research with this pathogen has been hampered in part by constraints of Select Agent regulations for safety reasons. Whole genomic sequencing (WGS) is an apt approach to characterize newly discovered or poorly understood microbial pathogens. Results: We performed WGS on a strain of B. mallei, SAVP1, previously pathogenic, that was experimentally infected in 6 equids (4 ponies, 1 mule, 1 donkey), natural hosts, for purposes of producing antibodies. Multiple high inocula wer...
Equine clinical cytogenetics: the past and future.
Cytogenetic and genome research    April 30, 2008   Volume 120, Issue 1-2 42-49 doi: 10.1159/000118739
Lear TL, Bailey E.Cytogenetic analyses of horses have benefited the horse industry by identifying chromosomal aberrations causing congenital abnormalities, embryonic loss and infertility. Technical advances in cytogenetics enabled the identification of chromosome specific aberrations. More recently, advances in genomic tools have been used to more precisely define chromosome abnormalities. In this report we review the history of equine clinical cytogenetics, identify historical landmarks for equine clinical cytogenetics, discuss how the current use of genomic tools has benefited this area, and how future genomi...
Potential applications of equine genomics in dissecting diseases and fertility.
Animal reproduction science    April 29, 2008   Volume 107, Issue 3-4 208-218 doi: 10.1016/j.anireprosci.2008.04.010
Chowdhary BP, Paria N, Raudsepp T.Following the recent development of high-resolution gene maps and generation of several basic tools and resources to use them in analyzing traits that are economically important to horse owners, genome analysis in horses is witnessing a shift towards developing an ability to analyze complex traits. The likelihood of this happening in the very near future is great, mainly because of the recent availability of the whole genome sequence in the horse. The latter has triggered the development of novel tools like SNP-chip and expression arrays that will permit rapid genome-wide analysis. While these...
An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds.
Animal genetics    April 10, 2008   Volume 39, Issue 3 306-309 doi: 10.1111/j.1365-2052.2008.01715.x
Haase B, Jude R, Brooks SA, Leeb T.The tobiano white-spotting pattern is one of several known depigmentation phenotypes in horses and is desired by many horse breeders and owners. The tobiano spotting phenotype is inherited as an autosomal dominant trait. Horses that are heterozygous or homozygous for the tobiano allele (To) are phenotypically indistinguishable. A SNP associated with To had previously been identified in intron 13 of the equine KIT gene and was used for an indirect gene test. The test was useful in several horse breeds. However, genotyping this sequence variant in the Lewitzer horse breed revealed that 14% of ho...
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Genomics    March 20, 2008   Volume 91, Issue 5 458-466 doi: 10.1016/j.ygeno.2008.01.011
McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR.Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion. It is unlike glycogen storage diseases resulting from known defects in glycogenolysis, glycolysis, and glycogen synthesis that have been described in humans and domestic animals. A genome-wide association identified GYS1, encoding skeletal muscle glycogen synthase (GS), as a candidate gene for PSSM. DNA sequence analysis revealed a mutation resulting in an arginine-to-histidine substitution in a highly conserved region of G...
Genetic diversity in the Pantaneiro horse breed assessed using microsatellite DNA markers.
Genetics and molecular research : GMR    March 18, 2008   Volume 7, Issue 1 261-270 doi: 10.4238/vol7-1gmr367
Giacomoni EH, Fernández-Stolz GP, Freitas TR.The genetic variability for a sample of 227 animals from three populations of Pantaneiro horses was estimated using data from 10 microsatellite loci. The number of alleles and the proportion of heterozygosity indicated high variability. A total of 91 alleles were found, with a significantly high mean number of alleles. The mean polymorphic information content was 0.7 and the paternity exclusion probability was 99.3%. The inbreeding coefficient (F(IS)) was low for the three populations: Ipiranga (F(IS) = 0.147), Nova Esperança (F(IS) = 0.094) and Promissão (F(IS) = 0.108). Genetic differentia...
[Progress in the study of genetic diversity of Mongolian horse].
Yi chuan = Hereditas    March 12, 2008   Volume 30, Issue 3 269-276 
Dugarjaviin M, Yang H.Mongolian horse is a kind of important breed resource of local horses in our country. It has a lot of advantages such as powerful endurance, rough feeding resistance, and strong disease resistance. These advantages have become driving force for in-depth study on Mongolian horse. Genetic diversity can reflect all the genetic information of a species or a variety, namely, it reflects the richness of genetic diversity and confirms the degree of uniqueness of genetic resources through genetic markers. This paper introduces the progress in the study on genetic diversity of Mongolian horse in many a...
Application of primed in situ DNA synthesis (PRINS) with telomere human commercial kit in molecular cytogenetics of Equus caballus and Sus scrofa scrofa.
Folia histochemica et cytobiologica    February 26, 2008   Volume 46, Issue 1 85-88 doi: 10.2478/v10042-008-0012-9
Wnuk M, Bugno M, Slota E.Recently, molecular techniques have become an indispensable tools for cytogenetic research. Especially, development of in situ techniques made possible detection at the chromosomal level, genes as well as repetitive sequences like telomeres or the DNA component of telomeres. One of these methods is primed in situ DNA synthesis (PRINS) using an oligonucleotide primer complementary to the specific DNA sequence. In this report we described application of PRINS technique with telomere human commercial kit to telomere sequences identification. This commercial kit may be use to visualization of inte...
Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 23, 2008   Volume 16, Issue 1 89-107 doi: 10.1007/s10577-007-1201-7
Trifonov VA, Stanyon R, Nesterenko AI, Fu B, Perelman PL, O'Brien PC, Stone G, Rubtsova NV, Houck ML, Robinson TJ, Ferguson-Smith MA, Dobigny G....The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were established by multidirectional chromosome painting, with paint probes derived from flow-sorted chromosomes o...
Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed.
The Journal of heredity    February 21, 2008   Volume 99, Issue 2 130-136 doi: 10.1093/jhered/esm115
Rieder S, Hagger C, Obexer-Ruff G, Leeb T, Poncet PA.White markings and spotting patterns in animal species are thought to be a result of the domestication process. They often serve for the identification of individuals but sometimes are accompanied by complex pathological syndromes. In the Swiss Franches-Montagnes horse population, white markings increased vastly in size and occurrence during the past 30 years, although the breeding goal demands a horse with as little depigmented areas as possible. In order to improve selection and avoid more excessive depigmentation on the population level, we estimated population parameters and breeding value...
The horse genome derby: racing from map to whole genome sequence.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 16, 2008   Volume 16, Issue 1 109-127 doi: 10.1007/s10577-008-1204-z
Chowdhary BP, Raudsepp T.The map of the horse genome has undergone unprecedented expansion during the past six years. Beginning from a modest collection of approximately 300 mapped markers scattered on the 31 pairs of autosomes and the X chromosome in 2001, today the horse genome is among the best-mapped in domestic animals. Presently, high-resolution linearly ordered gene maps are available for all autosomes as well as the X and the Y chromosome. The approximately 4350 mapped markers distributed over the approximately 2.68 Gbp long equine genome provide on average 1 marker every 620 kb. Among the most remarkable deve...
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.
Cytogenetic and genome research    February 1, 2008   Volume 119, Issue 3-4 225-230 doi: 10.1159/000112065
Brooks SA, Lear TL, Adelson DL, Bailey E.Tobiano is a white spotting pattern in horses caused by a dominant gene, Tobiano(TO). Here, we report TO associated with a large paracentric chromosome inversion on horse chromosome 3. DNA sequences flanking the inversion were identified and a PCR test was developed to detect the inversion. The inversion was only found in horses with the tobiano pattern, including horses with diverse genetic backgrounds, which indicated a common genetic origin thousands of years ago. The inversion does not interrupt any annotated genes, but begins approximately 100 kb downstream of the KIT gene. This inversion...
Equine CTNNB1 and PECAM1 nucleotide structure and expression analyses in an experimental model of normal and pathological wound repair.
BMC physiology    January 31, 2008   Volume 8 1 doi: 10.1186/1472-6793-8-1
Miragliotta V, Ipiña Z, Lefebvre-Lavoie J, Lussier JG, Theoret CL.Wound healing in horses is fraught with complications. Specifically, wounds on horse limbs often develop exuberant granulation tissue which behaves clinically like a benign tumor and resembles the human keloid in that the evolving scar is trapped in the proliferative phase of repair, leading to fibrosis. Clues gained from the study of over-scarring in horses should eventually lead to new insights into how to prevent unwanted scar formation in humans. cDNA fragments corresponding to CTNNB1 (coding for beta-catenin) and PECAM1, genes potentially contributing to the proliferative phase of repair,...
Associations between candidate gene markers at a quantitative trait locus on equine chromosome 4 responsible for osteochondrosis dissecans in fetlock joints of South German Coldblood horses.
The Journal of heredity    January 27, 2008   Volume 99, Issue 2 125-129 doi: 10.1093/jhered/esm106
Wittwer C, Dierks C, Hamann H, Distl O.A previously accomplished whole-genome scan for osteochondrosis (OC) and OC dissecans (OCD) in South German Coldblood horses using 250 microsatellite markers identified putative quantitative trait loci (QTL). A chromosome-wide significant QTL for fetlock OCD was found on Equus caballus chromosome (ECA) 4q at a relative position of 70.0-73.3 cM. The aim of this study was to analyze associations of single nucleotide polymorphisms (SNPs) in candidate genes for OC in this region. The association analysis included 32 affected and 64 unaffected horses. Three SNPs located in intron 8, intron 9, and 3...
Isolation of a gammaherpesvirus similar to asinine herpesvirus-2 (AHV-2) from a mule and a survey of mules and donkeys for AHV-2 infection by real-time PCR.
Veterinary microbiology    January 3, 2008   Volume 130, Issue 1-2 176-183 doi: 10.1016/j.vetmic.2007.12.013
Bell SA, Pusterla N, Balasuriya UB, Mapes SM, Nyberg NL, MacLachlan NJ.Equids are commonly infected by herpesviruses, but isolation of herpesviruses from mules has apparently not been previously reported. Furthermore, the genomic relationships among the various equid herpesviruses are poorly characterized. We describe the isolation and preliminary characterization of a mule gammaherpesvirus tentatively identified as asinine herpesvirus-2 (AHV-2; also designated equid herpesvirus-7 (EHV-7)) from the nasal secretions (NS) of a healthy mule in northern California. The virus was initially identified by transmission electron microscopic examination of lysates of cell ...
Bayesian prediction of breeding values for multivariate binary and continuous traits in simulated horse populations using threshold-linear models with Gibbs sampling.
Animal : an international journal of animal bioscience    January 1, 2008   Volume 2, Issue 1 9-18 doi: 10.1017/S1751731107000912
Stock KF, Distl O, Hoeschele I.Simulated data were used to determine the properties of multivariate prediction of breeding values for categorical and continuous traits using phenotypic, molecular genetic and pedigree information by mixed linear-threshold animal models via Gibbs sampling. Simulation parameters were chosen such that the data resembled situations encountered in Warmblood horse populations. Genetic evaluation was performed in the context of the radiographic findings in the equine limbs. The simulated pedigree comprised seven generations and 40 000 animals per generation. The simulated data included additive gen...
Breeding racehorses: what price good genes?
Biology letters    December 20, 2007   Volume 4, Issue 2 173-175 doi: 10.1098/rsbl.2007.0588
Wilson AJ, Rambaut A.Horse racing is a multi-million pound industry, in which genetic information is increasingly used to optimize breeding programmes. To maximize the probability of producing a successful offspring, the owner of a mare should mate her with a high-quality stallion. However, stallions with big reputations command higher stud fees and paying these is only a sensible strategy if, (i) there is a genetic variation for success on the racecourse and (ii) stud fees are an honest signal of a stallion's genetic quality. Using data on thoroughbred racehorses, and lifetime earnings from prize money (LE) as a ...
Liposome-mediated uptake of exogenous DNA by equine spermatozoa and applications in sperm-mediated gene transfer.
Equine veterinary journal    December 18, 2007   Volume 40, Issue 1 76-82 doi: 10.2746/042516407X235786
Ball BA, Sabeur K, Allen WR.Sperm-mediated gene transfer has been reported as a method for production of transgenic animals in a variety of species, and this technique represents a possible method for production of transgenic equids. Objective: To evaluate the uptake of exogenous DNA (enhanced green fluorescent protein; pEGFP) by equine spermatozoa and to assess the ability of transfected spermatozoa to introduce this transgene into early equine embryos. Methods: To evaluate incorporation of pEGFP into equine spermatozoa, washed spermatozoa were incubated with 32P-pEGFP, with or without lipofection. Spermatozoa were also...
Review of genetic aspects of radiological alterations in the navicular bone of the horse.
DTW. Deutsche tierarztliche Wochenschrift    December 15, 2007   Volume 114, Issue 11 404-411 
Diesterbeck U, Distl O.Navicular disease or podotrochlosis has long been known to cause forelimb lameness in horses. It had been proposed that the development of podotrochlosis has similarities to the human osteoarthritis (OA) complex. Alterations of the navicular bone can be made visible early in life only on the basis of radiographs. Reports on the prevalences of navicular disease indicate that radiological alterations in the navicular bone are present in different warmblood populations at frequencies of between 14.9% and 87.6%. Genetic factors play an important role in the development of the radiological signs. E...
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions.
The American journal of surgical pathology    December 7, 2007   Volume 31, Issue 11 1764-1775 doi: 10.1097/PAS.0b013e318057faa7
Zembowicz A, Knoepp SM, Bei T, Stergiopoulos S, Eng C, Mihm MC, Stratakis CA.Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC). Mutations of the protein kinase A regulatory subunit type 1alpha (R1alpha) (coded by the PRKAR1A gene) are found in more than half of CNC patients. In this study, we investigated whether PEM and EBN are related at the molecular level, and whether changes in the PRKAR1A gene status and the expression of the R1alpha protein may be involved in th...
The horse genome project–sequence based insights into male reproductive mechanisms.
Reproduction in domestic animals = Zuchthygiene    December 6, 2007   Volume 42 Suppl 2 45-50 doi: 10.1111/j.1439-0531.2007.00897.x
Leeb T.The growing knowledge on physiology, cell biology and biochemistry of the reproductive organs has provided many insights into molecular mechanisms that are required for successful reproduction. Research directed at the investigation of reproduction physiology in domestic animals was hampered in the past by a lack of species-specific genomic information. The genome sequences of dog, cattle and horse have become publicly available in 2005, 2006 and 2007 respectively. Although the gene content of mammalian genomes is generally very similar, genes involved in reproduction tend to be less conserved...
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
PLoS genetics    November 14, 2007   Volume 3, Issue 11 e195 doi: 10.1371/journal.pgen.0030195
Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T.White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from approximately 50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of t...
Equine umbilical cord blood contains a population of stem cells that express Oct4 and differentiate into mesodermal and endodermal cell types.
Journal of cellular physiology    October 12, 2007   Volume 215, Issue 2 329-336 doi: 10.1002/jcp.21312
Reed SA, Johnson SE.Mesenchymal stem cells (MSCs) offer promise as therapeutic aids in the repair of tendon, ligament, and bone damage suffered by sport horses. The objective of the study was to identify and characterize stem-like cells from newborn foal umbilical cord blood (UCB). UCB was collected and MSC isolated using human reagents. The cells exhibit a fibroblast-like morphology and express the stem cell markers Oct4, SSEA-1, Tra1-60 and Tra1-81. Culture of the cells in tissue-specific differentiation media leads to the formation of cell types characteristic of mesodermal and endodermal origins. Chondrogenic...
Molecular characterization and chromosomal assignment of equine cartilage derived retinoic acid sensitive protein (CD-RAP)/melanoma inhibitory activity (MIA).
Gene    October 5, 2007   Volume 407, Issue 1-2 98-104 doi: 10.1016/j.gene.2007.09.022
Berg LC, Mata X, Thomsen PD.Cartilage-derived retinoic acid sensitive protein (CD-RAP) also known as melanoma inhibitory activity (MIA) has already been established as a marker for chondrocyte differentiation and a number of cancerous conditions in humans. Studies have also shown that CD-RAP/MIA is a potential marker of joint disease. The objective of this study was to characterize the equine CD-RAP/MIA gene and thus make it available as a marker in cartilage research and clinical studies. Gene analysis revealed that the equine gene (GenBank accession no. EF679787) consists of four exons and three introns, and the homolo...
Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15–>q21.
Cytogenetic and genome research    September 29, 2007   Volume 118, Issue 1 55-62 doi: 10.1159/000106441
Hansen M, Knorr C, Hall AJ, Broad TE, Brenig B.The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in horses. An equine BAC clone harboring the SLC26A2 gene was isolated. The complete 142,625 bp insert sequence of this clone was determined by transposon sequencing. Together with the SLC26A2 gene the BAC clone contains four genes, i.e. the macrophage colony stimulating factor 1 recep...
Genome-wide search for markers associated with osteochondrosis in Hanoverian warmblood horses.
Mammalian genome : official journal of the International Mammalian Genome Society    September 29, 2007   Volume 18, Issue 10 739-747 doi: 10.1007/s00335-007-9058-9
Dierks C, Löhring K, Lampe V, Wittwer C, Drögemüller C, Distl O.A genome-wide scan was performed to detect quantitative trait loci (QTLs) for osteochondrosis (OC) and osteochondrosis dissecans (OCD) in horses. The marker set comprised 260 microsatellites. We collected data from 211 Hanoverian warmblood horses consisting of 14 paternal half-sib families. Traits used were OC (fetlock and/or hock joints affected), OCD (fetlock and/or hock joints affected), fetlock OC, fetlock OCD, hock OC, and hock OCD. The first genome scan included 172 microsatellite markers. In a second step 88 additional markers were chosen to refine putative QTLs found in the first scan....
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