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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.
Investigation of allele frequencies for Lavender foal syndrome in the horse.
Animal genetics    January 4, 2012   Volume 43, Issue 5 650 doi: 10.1111/j.1365-2052.2011.02305.x
Gabreski NA, Haase B, Armstrong CD, Distl O, Brooks SA.No abstract available
Genomic characterization of the Taylorella genus.
PloS one    January 3, 2012   Volume 7, Issue 1 e29953 doi: 10.1371/journal.pone.0029953
Hébert L, Moumen B, Pons N, Duquesne F, Breuil MF, Goux D, Batto JM, Laugier C, Renault P, Petry S.The Taylorella genus comprises two species: Taylorella equigenitalis, which causes contagious equine metritis, and Taylorella asinigenitalis, a closely-related species mainly found in donkeys. We herein report on the first genome sequence of T. asinigenitalis, analyzing and comparing it with the recently-sequenced T. equigenitalis genome. The T. asinigenitalis genome contains a single circular chromosome of 1,638,559 bp with a 38.3% GC content and 1,534 coding sequences (CDS). While 212 CDSs were T. asinigenitalis-specific, 1,322 had orthologs in T. equigenitalis. Two hundred and thirty-four T...
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire    January 3, 2012   Volume 75, Issue 3 222-227 
Macieira S, Lussier J, Bédard C.Glanzmann thrombasthenia (GT) is characterized by a defect of platelet aggregation. This autosomal recessive genetic disorder is caused by an abnormality of the platelet glycoprotein receptors alpha IIb or beta III. Recently, we identified a horse with clinical and pathological features of GT. The aim of this study was to describe this case of GT at the molecular level. A point mutation from G to C in exon 2 of ITGA2B causing a substitution of the expected amino acid arginine 72 (Arg(72)) by a proline (Pro(72)) was encountered. This amino acid change may result in abnormal structural conformat...
Heritability estimates for racing performance in Japanese Thoroughbred racehorses using linear and non-linear model analyses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    December 28, 2011   Volume 129, Issue 5 402-408 doi: 10.1111/j.1439-0388.2011.00982.x
Tozaki T, Miyake T, Kakoi H, Gawahara H, Hirota K, Nakano Y, Kurosawa M.This study evaluated the differences between linear and non-linear modelled heritability estimates of racing performance based on lifetime earnings (LE) and lifetime ranking (LR) in Japanese Thoroughbred racehorses. The heritability estimate (h(2) = 0.25) obtained from a non-linear model based on formal Japan Racing Association ranking was much higher than that obtained from a linear model based on the original trait phenotype (h(2) = 0.11). The linear models showed slightly higher heritability estimates under the trait categorizations than under the original phenotypes, while the non-linear c...
Characterization of cytochrome b diversity in Chinese domestic horses.
Animal genetics    December 21, 2011   Volume 43, Issue 5 624-626 doi: 10.1111/j.1365-2052.2011.02298.x
Yue XP, Qin F, Campana MG, Liu DH, Mao CC, Wang XB, Lan XY, Chen H, Lei CZ.Previous mitochondrial DNA (mtDNA) D-loop and microsatellite studies have shown that Chinese horses have multiple maternal origins and high genetic diversity. To better characterize maternal genetic origins and diversity of Chinese domestic horses, we conducted a comprehensive analysis of 407 complete 1140 bp sequences of the horse mitochondrially encoded cytochrome b (CYTB) gene, including 323 horses from 13 Chinese indigenous breeds and 84 reference sequences from GenBank. A total of 114 haplotypes were identified, of which 73 appeared among the 13 Chinese horse breeds. The high mitochondria...
[DNA research proofs identity of horses and cows].
Tijdschrift voor diergeneeskunde    December 15, 2011   Volume 136, Issue 11 808-809 
Haneveld JK.No abstract available
Fertilisation in the horse and paracrine signalling in the oviduct.
Reproduction, fertility, and development    December 1, 2011   Volume 23, Issue 8 941-951 doi: 10.1071/RD10285
Goudet G.The mammalian oviduct plays a crucial role in the preparation of gametes for fertilisation (transport and final maturation) and fertilisation itself. An increasing number of studies offers a comprehensive overview of the functions of the oviduct and its secretions, but this topic has had limited investigation in the horse. Limited data are available on the final oocyte maturation in the equine oviduct. However, in vitro and in vivo systems have been established to analyse the influence of equine oviduct epithelial cells (OEC) during maturation on the potential of oocytes for fertilisation and ...
[Gene pool differentiation between Altaic and trotting horse breeds inferred from ISSR-PCR marker data].
Genetika    November 29, 2011   Volume 47, Issue 9 1230-1235 
Feofilov AV, Bardukov NV, Glazko VI.Using ISSR-PCR marker data, comparative analysis of the gene pools of Altaic and trotting horse breeds was carried out. Horse groups of different origin demonstrated differences in amplification spectra of DNA fragments flanked by inverted repeats of four microsatellites. Combinations of certain DNA fragments present in these profiles reproducibly distinguished genomes of the Altaic breed from the trotting breeds. Genetic differentiation between some trotting breeds, based on Nei genetic distance values, was found to be comparable to that between the groups of horses of Altaic breed from two d...
Harnessing the genetic toolbox for the benefit of the racing Thoroughbred.
Equine veterinary journal    November 6, 2011   Volume 44, Issue 1 8-12 doi: 10.1111/j.2042-3306.2011.00465.x
Webbon P.The understanding and application of genetics have grown extremely quickly since it has become possible to sequence the whole genome of an organism. The human genome sequence was completed in 2001 and that of the horse in 2007. The significance of this is that it makes it more feasible to explain how both genetically simple and complex traits are transmitted from one generation to the next and, therefore, to make informed breeding decisions, modify how horses are managed and trained to minimise the risk of disease and injury, and improve methods of prevention, diagnosis and treatment of many c...
A genome-wide association study of osteochondritis dissecans in the Thoroughbred.
Mammalian genome : official journal of the International Mammalian Genome Society    November 4, 2011   Volume 23, Issue 3-4 294-303 doi: 10.1007/s00335-011-9363-1
Corbin LJ, Blott SC, Swinburne JE, Sibbons C, Fox-Clipsham LY, Helwegen M, Parkin TD, Newton JR, Bramlage LR, McIlwraith CW, Bishop SC, Woolliams JA....Osteochondrosis is a developmental orthopaedic disease that occurs in horses, other livestock species, companion animal species, and humans. The principal aim of this study was to identify quantitative trait loci (QTL) associated with osteochondritis dissecans (OCD) in the Thoroughbred using a genome-wide association study. A secondary objective was to test the effect of previously identified QTL in the current population. Over 300 horses, classified as cases or controls according to clinical findings, were genotyped for the Illumina Equine SNP50 BeadChip. An animal model was first implemented...
Genetic differences in the serum proteome of horses, donkeys and mules are detectable by protein profiling.
The British journal of nutrition    October 26, 2011   Volume 106 Suppl 1 S170-S173 doi: 10.1017/S0007114511000845
Henze A, Aumer F, Grabner A, Raila J, Schweigert FJ.Although horses and donkeys belong to the same genus, their genetic characteristics probably result in specific proteomes and post-translational modifications (PTM) of proteins. Since PTM can alter protein properties, specific PTM may contribute to species-specific characteristics. Therefore, the aim of the present study was to analyse differences in serum protein profiles of horses and donkeys as well as mules, which combine the genetic backgrounds of both species. Additionally, changes in PTM of the protein transthyretin (TTR) were analysed. Serum protein profiles of each species (five anima...
Genetic stability in the Icelandic horse breed.
Animal genetics    October 18, 2011   Volume 43, Issue 4 447-449 doi: 10.1111/j.1365-2052.2011.02266.x
Campana MG, Stock F, Barrett E, Benecke N, Barker GW, Seetah K, Bower MA.Despite the Icelandic horse enjoying great popularity worldwide, the breed's gene pool is small. This is because of a millennium of isolation on Iceland, population crashes caused by natural disasters and selective breeding. Populations with small effective population sizes are considered to be more at risk of selection pressures such as disease and environmental change. By analysing historic and modern mitochondrial DNA sequences and nuclear coat colour genes, we examined real-time population dynamics in the Icelandic horse over the last 150 years. Despite the small gene pool of this breed, w...
Equine fetal sex determination using circulating cell-free fetal DNA (ccffDNA).
Theriogenology    October 13, 2011   Volume 77, Issue 3 694-698 doi: 10.1016/j.theriogenology.2011.09.005
de Leon PM, Campos VF, Dellagostin OA, Deschamps JC, Seixas FK, Collares T.In this study, polymerase chain reaction (PCR) reamplification of the first PCR product (2nd-PCR) and a qPCR assay were used to detect the sex determining region Y (SRY) gene from circulating cell-free fetal DNA (ccffDNA) in blood plasma of pregnant mares to determine fetal sex. The ccffDNA was isolated from plasma of 20 Thoroughbred mares (5-13 y old) in the final 3 mo of pregnancy (fetal sex was verified after foaling). For controls, plasma from two non-pregnant mares and two virgin mares were used, in addition to the non-template control. The 182 bp nucleotide sequence corresponding to the ...
A genome-wide association study for quantitative trait loci of show-jumping in Hanoverian warmblood horses.
Animal genetics    October 12, 2011   Volume 43, Issue 4 392-400 doi: 10.1111/j.1365-2052.2011.02265.x
Schröder W, Klostermann A, Stock KF, Distl O.Show-jumping is an economically important breeding goal in Hanoverian warmblood horses. The aim of this study was a genome-wide association study (GWAS) for quantitative trait loci (QTL) for show-jumping in Hanoverian warmblood horses, employing the Illumina equine SNP50 Beadchip. For our analyses, we genotyped 115 stallions of the National State stud of Lower Saxony. The show-jumping talent of a horse includes style and ability in free-jumping. To control spurious associations based on population stratification, two different mixed linear animal model (MLM) approaches were employed, besides l...
Genome-wide association study among four horse breeds identifies a common haplotype associated with in vitro CD3+ T cell susceptibility/resistance to equine arteritis virus infection.
Journal of virology    October 12, 2011   Volume 85, Issue 24 13174-13184 doi: 10.1128/JVI.06068-11
Go YY, Bailey E, Cook DG, Coleman SJ, Macleod JN, Chen KC, Timoney PJ, Balasuriya UB.Previously, we have shown that horses could be divided into susceptible and resistant groups based on an in vitro assay using dual-color flow cytometric analysis of CD3+ T cells infected with equine arteritis virus (EAV). Here, we demonstrate that the differences in in vitro susceptibility of equine CD3+ T lymphocytes to EAV infection have a genetic basis. To investigate the possible hereditary basis for this trait, we conducted a genome-wide association study (GWAS) to compare susceptible and resistant phenotypes. Testing of 267 DNA samples from four horse breeds that had a susceptible or a r...
Genetic analysis of the Venezuelan Criollo horse.
Genetics and molecular research : GMR    October 7, 2011   Volume 10, Issue 4 2394-2403 doi: 10.4238/2011.October.7.1
Cothran EG, Canelon JL, Luis C, Conant E, Juras R.Various horse populations in the Americas have an origin in Spain; they are remnants of the first livestock introduced to the continent early in the colonial period (16th and 17th centuries). We evaluated genetic variability within the Venezuelan Criollo horse and its relationship with other horse breeds. We observed high levels of genetic diversity within the Criollo breed. Significant population differentiation was observed between all South American breeds. The Venezuelan Criollo horse showed high levels of genetic diversity, and from a conservation standpoint, there is no immediate danger ...
Genomic structure, polymorphism and expression of the horse alpha-actinin-3 gene.
Gene    September 29, 2011   Volume 491, Issue 1 20-24 doi: 10.1016/j.gene.2011.09.014
Mata X, Vaiman A, Ducasse A, Diribarne M, Schibler L, Guérin G.Gene characterization is an important feature for genome annotation and more particularly for candidate genes that could be selected in domestic species. Associations between an alpha-actinin-3 gene polymorphism and muscle performance were reported in humans involving a nonsense mutation (R577X) and in mice after inactivation of the gene. Here, we characterized the equine alpha-actinin-3 (ACTN3) gene by sequencing and transcript analysis. The cDNA was determined to be 3.47 kb in length with an open reading frame of 2709 bp expectedly encoding a protein 902 amino acids long. The ACTN3 gene is 1...
Transcriptome analysis of muscle in horses suffering from recurrent exertional rhabdomyolysis revealed energetic pathway alterations and disruption in the cytosolic calcium regulation.
Animal genetics    September 27, 2011   Volume 43, Issue 3 271-281 doi: 10.1111/j.1365-2052.2011.02246.x
Barrey E, Jayr L, Mucher E, Gospodnetic S, Joly F, Benech P, Alibert O, Gidrol X, Mata X, Vaiman A, Guérin G.Recurrent exertional rhabdomyolysis (RER) is frequently observed in race horses like trotters. Some predisposing genetic factors have been described in epidemiological studies. However, the exact aetiology is still unknown. A calcium homeostasis disruption was suspected in previous experimental studies, and we suggested that a transcriptome analysis of RER muscles would be a possible way to investigate the pathway disorder. The purpose of this study was to compare the gene expression profile of RER vs. control muscles in the French Trotter to determine any metabolic or structural disruption. T...
The identification of SNPs with indeterminate positions using the Equine SNP50 BeadChip.
Animal genetics    September 15, 2011   Volume 43, Issue 3 337-339 doi: 10.1111/j.1365-2052.2011.02243.x
Corbin LJ, Blott SC, Swinburne JE, Vaudin M, Bishop SC, Woolliams JA.We have used linkage disequilibrium (LD) to identify single nucleotide polymorphisms (SNPs) on the Illumina Equine SNP50 BeadChip, which may be incorrectly positioned on the genome map. A total of 1201 Thoroughbred horses were genotyped using the Illumina Equine SNP50 BeadChip. LD was evaluated in a pairwise fashion between all autosomal SNPs, both within and across chromosomes. Filters were then applied to the data, firstly to identify SNPs that may have been mapped to the wrong chromosome and secondly to identify SNPs that may have been incorrectly positioned within chromosomes. We identifie...
Highlight: a massively parallel sequencing approach uncovers ancient origins and high genetic variability of endangered Przewalski’s horses.
Genome biology and evolution    September 13, 2011   Volume 3 1094-1095 doi: 10.1093/gbe/evr091
Venton D.No abstract available
Thermophilic helicase-dependent DNA amplification using the IsoAmp™ SE experimental kit for rapid detection of Streptococcus equi subspecies equi in clinical samples. Artiushin S, Tong Y, Timoney J, Lemieux B, Schlegel A, Kong H.A simple and portable assay for detection of Streptococcus equi subspecies equi has been developed based on amplification of S. equi-specific sequence using a thermophilic helicase-dependent reaction followed by visual detection of the amplicon in a disposable lateral flow cassette. An experimental kit (IsoAmp™ SE) was evaluated. Analytical sensitivity was 50 copies of S. equi genomic DNA per reaction. The IsoAmp SE assay had 100% specificity when applied to nasal swabs and washes. The assay was more sensitive than culture but less sensitive than nested polymerase chain reaction (PCR). The t...
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...
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