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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.
Genetic variation within and relationships among five subpopulations of Slovak Thoroughbred.
Acta veterinaria Hungarica    September 24, 2004   Volume 52, Issue 3 259-265 doi: 10.1556/AVet.52.2004.3.2
Sátková-Jakabová D, Trandzík J, Hudecová-Kvasnáková L, Hegedüsová-Zetochová E, Bugarský A, Buleca J, Zöldág L, Jakab F, Fl'ak P.Genetic variation at six microsatellite loci was analysed for five Thoroughbred subpopulations to determine the magnitude of genetic differentiation and the genetic relationships among the subpopulations. Significant deviations from Hardy-Weinberg equilibrium were shown for a number of locus-population combinations, with all subpopulations. The genetic diversities and relationships of five Thoroughbred subpopulations were evaluated using six microsatellites recommended by the International Society of Animal Genetics (ISAG). The allele frequencies, the effective numbers of alleles, and the obse...
The serum proteome of Equus caballus.
Proteomics    September 21, 2004   Volume 4, Issue 10 3227-3234 doi: 10.1002/pmic.200400846
Miller I, Friedlein A, Tsangaris G, Maris A, Fountoulakis M, Gemeiner M.We constructed a reference two-dimensional protein map for horse (Equus caballus) serum. The serum proteins were separated by two-dimensional electrophoresis (2-DE); 29 different gene products were identified. Proteins represented by 25 spots/spot groups were identified by tandem nanoelectrospray mass spectrometry (MS), four by matrix-assisted laser desorption ionization time-of-flight (TOF) MS and one was sequenced by TOF-TOF technology. The identities of four proteins were deduced by similarity to the human plasma protein database. In selected cases, i.e. the immunoglobulins, immunoblotting ...
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.
Mammalian genome : official journal of the International Mammalian Genome Society    September 16, 2004   Volume 15, Issue 7 570-577 doi: 10.1007/s00335-004-2369-1
Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM, Mickelson JR.Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. We have now derived the complete GBE1 cDNA sequences for control horses and affected foals, and identified a C to A substitution at base 102 that results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon 1. All 11 affected foals were homozygous for the X34 allele, their 11 available dams and sires w...
Development of an in vivo Himar1 transposon mutagenesis system for use in Streptococcus equi subsp. equi.
FEMS microbiology letters    September 11, 2004   Volume 238, Issue 2 401-409 doi: 10.1016/j.femsle.2004.08.003
May JP, Walker CA, Maskell DJ, Slater JD.Streptococcus equi subsp. equi is the causative agent of the equine disease strangles. In this study we describe the development of an in vivo Himar1 transposon system for the random mutagenesis of S. equi and, potentially, other Gram-positive bacteria. We demonstrate efficient and random transposition of a modified mini-transposon onto the chromosome by Southern blot analysis and insertion site sequencing. Non-haemolytic mutants were isolated at a frequency of 0.2%, and acapsular mutants at a frequency of 0.04%. Taken together, these data demonstrate that in vivo Himar1 mutagenesis can be use...
Insulin-like growth factors-I and -II and insulin-like growth factor-binding protein-2 in dominant equine follicles during spring transition and the ovulatory season.
Reproduction (Cambridge, England)    August 31, 2004   Volume 128, Issue 3 321-329 doi: 10.1530/rep.1.00100
Watson ED, Bae SE, Thomassen R, Thomson SR, Woad K, Armstrong DG.The period between seasonal anoestrus and cyclicity is characterized in many mares by cyclical growth and regression of large dominant follicles. The insulin-like growth factor (IGF) system plays a key role in follicular growth and regression; therefore, we hypothesized that changes in the IGF system and its binding proteins would modulate onset of cyclicity in mares. Ovaries were obtained from pony mares on the day after detection of an actively growing 30 mm transitional anovulatory follicle, and also at the second or third oestrus of the breeding season on the day after the preovulatory fol...
The complete map of the Ig heavy chain constant gene region reveals evidence for seven IgG isotypes and for IgD in the horse.
Journal of immunology (Baltimore, Md. : 1950)    August 24, 2004   Volume 173, Issue 5 3230-3242 doi: 10.4049/jimmunol.173.5.3230
Wagner B, Miller DC, Lear TL, Antczak DF.This report contains the first map of the complete Ig H chain constant (IGHC) gene region of the horse (Equus caballus), represented by 34 overlapping clones from a new bacterial artificial chromosome library. The different bacterial artificial chromosome inserts containing IGHC genes were identified and arranged by hybridization using overgo probes specific for individual equine IGHC genes. The analysis of these IGHC clones identified two previously undetected IGHC genes of the horse. The newly found IGHG7 gene, which has a high homology to the equine IGHG4 gene, is located between the IGHG3 ...
Polymorphisms of the equine major histocompatibility complex class II DRA locus.
Tissue antigens    July 13, 2004   Volume 64, Issue 2 173-179 doi: 10.1111/j.1399-0039.2004.00269.x
Brown JJ, Thomson W, Clegg P, Eyre S, Kennedy LJ, Matthews J, Carter S, Ollier WE.The full extent of the polymorphism of ELA-DRA in Equidae is not yet known. Given the apparent differences in DRA polymorphisms between Equidae and other species, the aims of this study were to more fully characterize ELA-DRA, determine the extent of gene polymorphism and establish the allele-frequency distribution. An allele reference panel for the second exon of ELA-DRA was established by sequence-based typing of 69 equine DNA samples consisting of various breeds of domestic horse (Equus caballus), together with donkeys (Equus asinus), Grant's zebras (Equus boehmi) and one onager (Equus hemi...
The pathogenic equine streptococci.
Veterinary research    July 9, 2004   Volume 35, Issue 4 397-409 doi: 10.1051/vetres:2004025
Timoney JF.Streptococci pathogenic for the horse include S. equi (S. equi subsp. equi), S. zooepidemicus (S. equi subsp. zooepidemicus), S. dysgalactiae subsp. equisimilis and S. pneumoniae capsule Type III. S. equi is a clonal descendent or biovar of an ancestral S. zooepidemicus strain with which it shares greater than 98% DNA homology and therefore expresses many of the same proteins and virulence factors. Rapid progress has been made in identification of virulence factors and proteins uniquely expressed by S. equi. Most of these are expressed either on the bacterial surface or are secreted. Notable e...
A detailed physical map of the horse Y chromosome.
Proceedings of the National Academy of Sciences of the United States of America    June 14, 2004   Volume 101, Issue 25 9321-9326 doi: 10.1073/pnas.0403011101
Raudsepp T, Santani A, Wallner B, Kata SR, Ren C, Zhang HB, Womack JE, Skow LC, Chowdhary BP.We herein report a detailed physical map of the horse Y chromosome. The euchromatic region of the chromosome comprises approximately 15 megabases (Mb) of the total 45- to 50-Mb size and lies in the distal one-third of the long arm, where the pseudoautosomal region (PAR) is located terminally. The rest of the chromosome is predominantly heterochromatic. Because of the unusual organization of the chromosome (common to all mammalian Y chromosomes), a number of approaches were used to crossvalidate the results. Analysis of the 5,000-rad horse x hamster radiation hybrid panel produced a map spannin...
Isolation from the horse genome of a new DNA transposon belonging to the Tigger family.
Mammalian genome : official journal of the International Mammalian Genome Society    June 1, 2004   Volume 15, Issue 5 399-403 doi: 10.1007/s00335-004-3040-6
Paulis M, Moralli D, Bensi M, De Carli L, Raimondi E.Tigger elements are human DNA transposons homologous to the pogo element of Drosophila melanogaster. They contain an open reading frame for a transposase very similar to the major mammalian centromere protein CENP-B. We found in the horse genome a DNA element ( Ecatig3) sharing 88% homology with human Tigger3. The presence of Tigger elements in the horse genome confirms previous data that date these elements before the divergence between Perissodactyla and Primates (80-90 Myr ago). Copy number evaluation indicates that the horse element is much more abundant than its human counterpart. Souther...
Absence of the functional Myosin heavy chain 2b isoform in equine skeletal muscles.
Zoological science    June 1, 2004   Volume 21, Issue 5 589-596 doi: 10.2108/zsj.21.589
Chikuni K, Muroya S, Nakajima I.Nucleotide sequences which included the full coding region for three types of myosin heavy chain (MyHC) isoforms were determined from equine skeletal muscles. The deduced amino acid sequences were 1937, 1938, and 1935 residues for the MyHC-2a, -2x, and -slow, respectively. No MyHC-2b isoform was amplified from the equine muscle cDNA except for one pseudogene fragment. One nucleotide was inserted in the coding region of the equine pseudogene product, a minute amount of which was expressed in the skeletal muscle. The 596 bp sequence of the equine MyHC pseudogene was categorized into the MyHC-2b ...
Isolation of Y chromosome-specific microsatellites in the horse and cross-species amplification in the genus Equus.
The Journal of heredity    April 10, 2004   Volume 95, Issue 2 158-164 doi: 10.1093/jhered/esh020
Wallner B, Piumi F, Brem G, Müller M, Achmann R.Y chromosome polymorphisms such as microsatellites or single nucleotide polymorphisms represent a paternal counterpart to mitochondrial DNA (mtDNA) for evolutionary and phylogeographic studies. The use of Y chromosome haplotyping in natural populations of species other than humans is still hindered by the lack of sequence information necessary for polymorphism screening. Here we used representational difference analysis (RDA) followed by a screen of a bacterial artificial chromosome (BAC) library for repetitive sequences to obtain polymorphic Y-chromosomal markers. The procedure was performed ...
[Genealogic analysis of hereditary components of a metapopulation of Przhevalsky horse].
Genetika    April 7, 2004   Volume 40, Issue 2 261-266 
Belousova IP, Orlov VN, Kudriavtsev IV.The current condition of the megapopulation of the Przhevalsky horse was assessed using genetic indices of biological diversity of species and genealogical analysis and taking into account both nuclear and non-nuclear (mitochondrial), maternally inherited components of hereditary information.
Genetic characterization of Pompeii and Herculaneum Equidae buried by Vesuvius in 79 AD.
Journal of cellular physiology    March 25, 2004   Volume 199, Issue 2 200-205 doi: 10.1002/jcp.10461
Di Bernardo G, Galderisi U, Del Gaudio S, D'Aniello A, Lanave C, De Robertis MT, Cascino A, Cipollaro M.DNA extracted from the skeletons of five equids discovered in a Pompeii stable and of a horse found in Herculaneum was investigated. Amino acid racemization level was consistent with the presence of DNA. Post-mortem base modifications were excluded by sequencing a 146 bp fragment of the 16S rRNA mitochondrial gene. Sequencing of a 370 bp fragment of mitochondrial (mt)DNA control region allowed the construction of a phylogenetic tree that, along with sequencing of nuclear genes (epsilon globin, gamma interferon, and p53) fragments, gave us the possibility to address some questions puzzling arch...
Radiation hybrid mapping of 63 previously unreported equine microsatellite loci.
Animal genetics    March 18, 2004   Volume 35, Issue 2 159-162 doi: 10.1111/j.1365-2052.2004.01109.x
Wagner ML, Goh G, Wu JT, Raudsepp T, Morrison LY, Alexander LJ, Skow LC, Chowdhary BP, Mickelson JR.No abstract available
Limited number of patrilines in horse domestication.
Nature genetics    March 14, 2004   Volume 36, Issue 4 335-336 doi: 10.1038/ng1326
Lindgren G, Backström N, Swinburne J, Hellborg L, Einarsson A, Sandberg K, Cothran G, Vilà C, Binns M, Ellegren H.Genetic studies using mitochondrial DNA (mtDNA) have identified extensive matrilinear diversity among domestic horses. Here, we show that this high degree of polymorphism is not matched by a corresponding patrilinear diversity of the male-specific Y chromosome. In fact, a screening for single-nucleotide polymorphisms (SNPs) in 14.3 kb of noncoding Y chromosome sequence among 52 male horses of 15 different breeds did not identify a single segregation site. These observations are consistent with a strong sex-bias in the domestication process, with few stallions contributing genetically to the do...
Refined genome-wide comparative map of the domestic horse, donkey and human based on cross-species chromosome painting: insight into the occasional fertility of mules.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 27, 2004   Volume 12, Issue 1 65-76 doi: 10.1023/b:chro.0000009298.02689.8a
Yang F, Fu B, O'Brien PC, Nie W, Ryder OA, Ferguson-Smith MA.We have made a complete set of painting probes for the domestic horse by degenerate oligonucleotide-primed PCR amplification of flow-sorted horse chromosomes. The horse probes, together with a full set of those available for human, were hybridized onto metaphase chromosomes of human, horse and mule. Based on the hybridization results, we have generated genome-wide comparative chromosome maps involving the domestic horse, donkey and human. These maps define the overall distribution and boundaries of evolutionarily conserved chromosomal segments in the three genomes. Our results shed further lig...
Exceptional conservation of horse-human gene order on X chromosome revealed by high-resolution radiation hybrid mapping.
Proceedings of the National Academy of Sciences of the United States of America    February 26, 2004   Volume 101, Issue 8 2386-2391 doi: 10.1073/pnas.0308513100
Raudsepp T, Lee EJ, Kata SR, Brinkmeyer C, Mickelson JR, Skow LC, Womack JE, Chowdhary BP.Development of a dense map of the horse genome is key to efforts aimed at identifying genes controlling health, reproduction, and performance. We herein report a high-resolution gene map of the horse (Equus caballus) X chromosome (ECAX) generated by developing and typing 116 gene-specific and 12 short tandem repeat markers on the 5,000-rad horse x hamster whole-genome radiation hybrid panel and mapping 29 gene loci by fluorescence in situ hybridization. The human X chromosome sequence was used as a template to select genes at 1-Mb intervals to develop equine orthologs. Coupled with our previou...
Detection and nucleotide sequencing of a DNA-packaging protein gene of equine gammaherpesviruses. Kleiboeker SB, Turnquist SE, Johnson PJ, Kreeger JM.In previous studies, novel putative viral pathogens designated that asinine herpesvirus 4 (AsHV4) and asinine herpesvirus 5 (AsHV5) were associated with fatal interstitial pneumonia in donkeys (Equus asinus). Nucleotide sequence analysis of a portion of the DNA polymerase gene identified these putative pathogens as herpesviruses and possibly as members of the Gammaherpesvirinae subfamily. Although similar to equine herpesvirus 2 (EHV2) and equine herpesvirus 5 (EHV5), sequence diversity was observed among the detected viruses. In this study, novel sequence is reported for a DNA-packaging prote...
Homologous fission event(s) implicated for chromosomal polymorphisms among five species in the genus Equus.
Cytogenetic and genome research    February 19, 2004   Volume 102, Issue 1-4 217-221 doi: 10.1159/000075752
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.The genus Equus is unusual in that five of the ten extant species have documented centric fission (Robertsonian translocation) polymorphisms within their populations, namely E. hemionus onager, E. hemionus kulan, E. kiang, E. africanus somaliensis, and E. quagga burchelli. Here we report evidence that the polymorphism involves the same homologous chromosome segments in each species, and that these chromosome segments have homology to human chromosome 4 (HSA4). Bacterial artificial chromosome clones containing equine genes SMARCA5 (ECA2q21 homologue to HSA4q31. 21) and UCHL1 (ECA3q22 homologue ...
Equine genomics: galloping to new frontiers.
Cytogenetic and genome research    February 19, 2004   Volume 102, Issue 1-4 184-188 doi: 10.1159/000075746
Chowdhary BP, Bailey E.Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to analyze the equine genome are primarily aimed at developing critical resources (including an advanced gene map) that could readily be used in the near future to i) identify genes and mutations responsible for inherited equine diseases/disorders and to formulate approaches for accura...
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii).
Cytogenetic and genome research    February 19, 2004   Volume 102, Issue 1-4 222-225 doi: 10.1159/000075753
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.Przewalski's wild horse (E. przewalskii, EPR) has a diploid chromosome number of 2n = 66 while the domestic horse (E. caballus, ECA) has a diploid chromosome number of 2n = 64. Discussions about their phylogenetic relationship and taxonomic classification have hinged on comparisons of their skeletal morphology, protein and mitochondrial DNA similarities, their ability to produce fertile hybrid offspring, and on comparison of their chromosome morphology and banding patterns. Previous studies of GTG-banded karyotypes suggested that the chromosomes of both equids were homologous and the differenc...
An ordered BAC contig map of the equine major histocompatibility complex.
Cytogenetic and genome research    February 19, 2004   Volume 102, Issue 1-4 189-195 doi: 10.1159/000075747
Gustafson AL, Tallmadge RL, Ramlachan N, Miller D, Bird H, Antczak DF, Raudsepp T, Chowdhary BP, Skow LC.A physical map of ordered bacterial artificial chromosome (BAC) clones was constructed to determine the genetic organization of the horse major histocompatibility complex. Human, cattle, pig, mouse, and rat MHC gene sequences were compared to identify highly conserved regions which served as source templates for the design of overgo primers. Thirty-five overgo probes were designed from 24 genes and used for hybridization screening of the equine USDA CHORI 241 BAC library. Two hundred thirty-eight BAC clones were assembled into two contigs spanning the horse MHC region. The first contig contain...
Molecular characterization and mutational screening of the PRKAG3 gene in the horse.
Cytogenetic and genome research    February 19, 2004   Volume 102, Issue 1-4 211-216 doi: 10.1159/000075751
Park HB, Marklund S, Jeon JT, Mickelson JR, Valberg SJ, Sandberg K, Andersson L.The PRKAG3 gene encodes a muscle-specific isoform of the regulatory gamma subunit of AMP-activated protein kinase (AMPK). A major part of the coding PRKAG3 sequence was isolated from horse muscle cDNA using reverse-transcriptase (RT)-PCR analysis. Horse-specific primers were used to amplify genomic fragments containing 12 exons. Comparative sequence analysis of horse, pig, mouse, human, Fugu, and zebrafish was performed to establish the exon/intron organization of horse PRKAG3 and to study the homology among different isoforms of AMPK gamma genes in vertebrates. The results showed conclusively...
[Analysis of the population structure of the South German coldblood in Bavaria, Germany].
Berliner und Munchener tierarztliche Wochenschrift    February 18, 2004   Volume 117, Issue 1-2 57-62 
Aberle K, Wrede J, Distl O.Gene contributions of foreign populations as well as coefficients of inbreeding and relationship were calculated in 1918 South German Coldblood horses registered in Bavaria in 2003. Based on nearly complete 8-generation-pedigrees (index of pedigree completeness: 76%) the mean coefficient of inbreeding was 23%. After considering missing pedigree data, the mean coefficient of inbreeding was 3%. The rates of inbreeding per generation in the current population amount to about 0.43% over the last eight generations and to about 0.15% in the forthcoming generation. In the total current population, th...
Influence of long terminal repeat and env on the virulence phenotype of equine infectious anemia virus.
Journal of virology    February 14, 2004   Volume 78, Issue 5 2478-2485 doi: 10.1128/jvi.78.5.2478-2485.2004
Payne SL, Pei XF, Jia B, Fagerness A, Fuller FJ.The molecular clones pSPeiav19 and p19/wenv17 of equine infectious anemia virus (EIAV) differ in env and long terminal repeats (LTRs) and produce viruses (EIAV(19) and EIAV(17), respectively) of dramatically different virulence phenotypes. These constructs were used to generate a series of chimeric clones to test the individual contributions of LTR, surface (SU), and transmembrane (TM)/Rev regions to the disease potential of the highly virulent EIAV(17). The LTRs of EIAV(19) and EIAV(17) differ by 16 nucleotides in the transcriptional enhancer region. The two viruses differ by 30 amino acids i...
Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional.
Genome research    February 12, 2004   Volume 14, Issue 3 367-372 doi: 10.1101/gr.1961204
Frazer KA, Tao H, Osoegawa K, de Jong PJ, Chen X, Doherty MF, Cox DR.Cross-species DNA sequence comparison is a fundamental method for identifying biologically important elements, because functional sequences are evolutionarily conserved, wheres nonfunctional sequences drift. A recent genome-wide comparison of human and mouse DNA discovered over 200,000 conserved noncoding sequences with unknown function. Multispecies DNA comparison has been proposed as a method to prioritize these conserved noncoding sequences for functional analysis based on the hypothesis that elements present in many species are more likely to be functional than elements present in limited ...
Genetic characterization of equine arteritis virus during persistent infection of stallions.
The Journal of general virology    February 11, 2004   Volume 85, Issue Pt 2 379-390 doi: 10.1099/vir.0.19545-0
Balasuriya UBR, Hedges JF, Smalley VL, Navarrette A, McCollum WH, Timoney PJ, Snijder EJ, MacLachlan NJ.Equine arteritis virus (EAV) causes a persistent infection of the reproductive tract of carrier stallions. The authors determined the complete genome sequences of viruses (CW96 and CW01) that were present 5 years apart in the semen of a carrier stallion (CW). The CW96 and CW01 viruses respectively had only 85.6 % and 85.7 % nucleotide identity to the published sequence of EAV (EAV030). The CW96 and CW01 viruses had two 1 nt insertions and a single 1 nt deletion in the leader sequence, and a 3 nt coding insertion in ORF1a; thus their genomes included 12 708 nt as compared to the 12 704 nt in EA...
Genomic characterization of equine interleukin-4 receptor alpha-chain (IL4R).
Veterinary immunology and immunopathology    January 27, 2004   Volume 97, Issue 3-4 187-194 doi: 10.1016/j.vetimm.2003.09.004
Solberg OD, Jackson KA, Millon LV, Stott JL, Vandenplas ML, Moore JN, Watson JL.Three overlapping fragments of the equine interleukin-4 receptor alpha chain gene (IL4R) were cloned and sequenced. The resulting 3553 bp cDNA sequence exhibited homology to human, murine and bovine IL4R. The equine IL4R exhibits many conserved features when compared to other species, including intron-exon boundary positions and amino acid sequence motifs characteristic of type I cytokine receptors. The IL4R gene was localized to horse chromosome ECA13 by synteny mapping on a somatic cell hybrid panel. Evidence for an alternative splice variant of IL4R was found in the genomic sequence and sub...
Identification of putative homology between horse microsatellite flanking sequences and cross-species ESTs, mRNAs and genomic sequences.
Animal genetics    January 21, 2004   Volume 35, Issue 1 28-33 doi: 10.1111/j.1365-2052.2003.01077.x
Farber CR, Medrano JF.In this study the flanking sequences of 1534 horse microsatellites were used in a BLAST search to identify putative human-horse homologies. BLAST searches revealed 129 flanking sequences with significant blastn matches [alignment scores (S) > or = 60 and sum probability values (E) < or = 3.0E-6], also, 25 of these produced significant blastx matches. To provide a reference point in the human genome the flanking sequences with matches were subjected to a BLAT search of the University of California Santa Cruz (UCSC) human genome assembly (July 2003 freeze). Eighty-three of the flanking seq...
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