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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 de novo unique differentially expressed genes related to evolution in exercise response during domestication in Thoroughbred race horses.
PloS one    March 21, 2014   Volume 9, Issue 3 e91418 doi: 10.1371/journal.pone.0091418
Park W, Kim J, Kim HJ, Choi J, Park JW, Cho HW, Kim BW, Park MH, Shin TS, Cho SK, Park JK, Kim H, Hwang JY, Lee CK, Lee HK, Cho S, Cho BW.Previous studies of horse RNA-seq were performed by mapping sequence reads to the reference genome during transcriptome analysis. However in this study, we focused on two main ideas. First, differentially expressed genes (DEGs) were identified by de novo-based analysis (DBA) in RNA-seq data from six Thoroughbreds before and after exercise, here-after referred to as "de novo unique differentially expressed genes" (DUDEG). Second, by integrating both conventional DEGs and genes identified as being selected for during domestication of Thoroughbred and Jeju pony from whole genome re-sequencing (WG...
RNA-seq transcriptome profiling of equine inner cell mass and trophectoderm.
Biology of reproduction    March 20, 2014   Volume 90, Issue 3 61 doi: 10.1095/biolreprod.113.113928
Iqbal K, Chitwood JL, Meyers-Brown GA, Roser JF, Ross PJ.Formation of the inner cell mass (ICM) and trophectoderm (TE) marks the first differentiation event in mammalian development. These two cell types have completely divergent fates for the remainder of the developmental process. The molecular mechanisms that regulate ICM and TE formation are poorly characterized in horses. The objective of this study was to establish the transcriptome profiles of ICM and TE cells from horse blastocysts using RNA sequencing (RNA-seq). A total of 12 270 genes were found to be expressed in either lineage. Global analysis of the transcriptome profiles by unsupervi...
Involvement of mitochondrial dysfunction and ER-stress in the physiopathology of equine osteochondritis dissecans (OCD).
Experimental and molecular pathology    March 20, 2014   Volume 96, Issue 3 328-338 doi: 10.1016/j.yexmp.2014.03.004
Desjardin C, Chat S, Gilles M, Legendre R, Riviere J, Mata X, Balliau T, Esquerré D, Cribiu EP, Betch JM, Schibler L.Osteochondrosis (OC) is a developmental bone disorder affecting several mammalian species including the horse. Equine OC is described as a focal disruption of endochondral ossification, leading to osteochondral lesions (osteochondritis dissecans, OCD) that may release free bodies within the joint. OCD lesions trigger joint swelling, stiffness and lameness and affects about 30% of the equine population. OCD is considered as multifactorial but its physiopathology is still poorly understood and genes involved in genetic predisposition are still unknown. Our study compared two healthy and two OC-a...
Hypoxia-conditioned media allows species-specific attraction of bone marrow stromal cells without need for recombinant proteins.
BMC veterinary research    March 4, 2014   Volume 10 56 doi: 10.1186/1746-6148-10-56
Gabrielyan A, Knaak S, Gelinsky M, Arnhold S, Rösen-Wolff A.In vivo tissue regeneration depends on migration of stem cells into injured areas, their differentiation into specific cell types, and their interaction with other cells that are necessary to generate new tissue. Human mesenchymal stem cells, a subset of bone marrow stromal cells (BMSCs), can migrate and differentiate into osteoblasts in bone tissue. This can be facilitated by recombinant growth factors and cytokines. In many animal species, the availability of genomic sequences, recombinant proteins, and/or antibodies is limited so that new approaches are needed to generate resources that fac...
A genome-wide association study demonstrates significant genetic variation for fracture risk in Thoroughbred racehorses.
BMC genomics    February 21, 2014   Volume 15 147 doi: 10.1186/1471-2164-15-147
Blott SC, Swinburne JE, Sibbons C, Fox-Clipsham LY, Helwegen M, Hillyer L, Parkin TD, Newton JR, Vaudin M.Thoroughbred racehorses are subject to non-traumatic distal limb bone fractures that occur during racing and exercise. Susceptibility to fracture may be due to underlying disturbances in bone metabolism which have a genetic cause. Fracture risk has been shown to be heritable in several species but this study is the first genetic analysis of fracture risk in the horse. Results: Fracture cases (n = 269) were horses that sustained catastrophic distal limb fractures while racing on UK racecourses, necessitating euthanasia. Control horses (n = 253) were over 4 years of age, were racing during the s...
Equus asinus papillomavirus (EaPV1) provides new insights into equine papillomavirus diversity.
Veterinary microbiology    February 16, 2014   Volume 170, Issue 3-4 213-223 doi: 10.1016/j.vetmic.2014.02.016
Lecis R, Tore G, Scagliarini A, Antuofermo E, Dedola C, Cacciotto C, Dore GM, Coradduzza E, Gallina L, Battilani M, Anfossi AG, Muzzeddu M, Chessa B....We detected a novel papillomavirus (EaPV1) from healthy skin and from sun associated cutaneous lesions of an Asinara (Sardinia, Italy) white donkey reared in captivity in a wildlife recovery centre. The entire genome of EaPV1 was cloned, sequenced, and characterised. Genome is 7467 bp long, and shows some characteristic elements of horse papillomaviruses, including a small untranslated region between the early and late regions and the lack of the retinoblastoma tumour suppressor binding domain LXCXE in E7. Additionally, a typical E6 ORF is missing. EaPV1 DNA was detected in low copies in norma...
The utility of low-density genotyping for imputation in the Thoroughbred horse.
Genetics, selection, evolution : GSE    February 4, 2014   Volume 46, Issue 1 9 doi: 10.1186/1297-9686-46-9
Corbin LJ, Kranis A, Blott SC, Swinburne JE, Vaudin M, Bishop SC, Woolliams JA.Despite the dramatic reduction in the cost of high-density genotyping that has occurred over the last decade, it remains one of the limiting factors for obtaining the large datasets required for genomic studies of disease in the horse. In this study, we investigated the potential for low-density genotyping and subsequent imputation to address this problem. Results: Using the haplotype phasing and imputation program, BEAGLE, it is possible to impute genotypes from low- to high-density (50K) in the Thoroughbred horse with reasonable to high accuracy. Analysis of the sources of variation in imput...
Genome-wide detection of copy number variations among diverse horse breeds by array CGH.
PloS one    January 30, 2014   Volume 9, Issue 1 e86860 doi: 10.1371/journal.pone.0086860
Wang W, Wang S, Hou C, Xing Y, Cao J, Wu K, Liu C, Zhang D, Zhang L, Zhang Y, Zhou H.Recent studies have found that copy number variations (CNVs) are widespread in human and animal genomes. CNVs are a significant source of genetic variation, and have been shown to be associated with phenotypic diversity. However, the effect of CNVs on genetic variation in horses is not well understood. In the present study, CNVs in 6 different breeds of mare horses, Mongolia horse, Abaga horse, Hequ horse and Kazakh horse (all plateau breeds) and Debao pony and Thoroughbred, were determined using aCGH. In total, seven hundred CNVs were identified ranging in size from 6.1 Kb to 0.57 Mb across a...
Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’).
Pathogens and disease    January 27, 2014   Volume 71, Issue 3 352-356 doi: 10.1111/2049-632X.12126
Sangal V, Jones AL, Goodfellow M, Sutcliffe IC, Hoskisson PA.Rhodococcus equi ('Prescottella equi') is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R. equi strain C7(T) , and compared the genome with that of another foal isolate 103S and of a human isolate ATCC 33707. The R. equi strains are closely related to each other and yet distantly related to other rhodococci and Nocardia brasiliensis. The comparison of gene contents among R. equi strains revealed minor differences that could be associated with host adaptation from foals to...
Genetic polymorphism of Hucul horse population based on 17 microsatellite loci.
Acta biochimica Polonica    January 17, 2014   Volume 60, Issue 4 761-765 
Fornal A, Radko A, Piestrzyńska-Kajtoch A.Short tandem repeat (STR) loci, i.e. microsatellites are a class of genetic markers commonly used for population studies and parentage control. This study determined the usefulness of microsatellite markers recommended by International Society for Animal Genetics (ISAG) for identification and pedigree analysis in horses based on the example of Polish Hucul horse population (Equus caballus). The set of seventeen microsatellites loci was tested (AHT4, AHT5, ASB2, HMS2, HMS3, HMS6, HMS7, HTG10, HTG4, HTG6, HTG7, VHL20, ASB17, ASB23, CA425, HMS1, LEX3) for 216 individuals. All samples were genotyp...
The Genome of the Predominant Equine Lactobacillus Species, Lactobacillus equi, Is Reflective of Its Lifestyle Adaptations to an Herbivorous Host.
Genome announcements    January 16, 2014   Volume 2, Issue 1 e01155-13 doi: 10.1128/genomeA.01155-13
O'Donnell MM, Harris HM, O'Toole PW, Ross RP.We report the draft genome sequence of Lactobacillus equi strain DPC6820, isolated from equine feces. L. equi is a predominant Lactobacillus species in the horse hindgut microbiota. An examination of the genome identified genes and enzymes highlighting L. equi adaptations to the herbivorous gastrointestinal tract of the horse, including fructan hydrolases. This genome sequence may help us further understand the microbial ecology of the equine hindgut and the influence lactobacilli have on it.
Sequence analysis of the equine ACTN3 gene in Australian horse breeds.
Gene    January 15, 2014   Volume 538, Issue 1 88-93 doi: 10.1016/j.gene.2014.01.014
Thomas KC, Hamilton NA, North KN, Houweling PJ.The sarcomeric α-actinins, encoded by the genes ACTN2 and ACTN3, are major structural components of the Z-line and have high sequence similarity. α-Actinin-2 is present in all skeletal muscle fibres, while α-actinin-3 has developed specialized expression in only type 2 (fast, glycolytic) fibres. A common single nucleotide polymorphism (SNP) in the human ACTN3 gene (R577X) has been found to influence muscle performance in elite athletes and the normal population. For this reason, equine ACTN3 (eACTN3) is considered to be a possible candidate that may influence horse performance. In this stud...
RNA sequencing of the exercise transcriptome in equine athletes.
PloS one    December 31, 2013   Volume 8, Issue 12 e83504 doi: 10.1371/journal.pone.0083504
Capomaccio S, Vitulo N, Verini-Supplizi A, Barcaccia G, Albiero A, D'Angelo M, Campagna D, Valle G, Felicetti M, Silvestrelli M, Cappelli K.The horse is an optimal model organism for studying the genomic response to exercise-induced stress, due to its natural aptitude for athletic performance and the relative homogeneity of its genetic and environmental backgrounds. Here, we applied RNA-sequencing analysis through the use of SOLiD technology in an experimental framework centered on exercise-induced stress during endurance races in equine athletes. We monitored the transcriptional landscape by comparing gene expression levels between animals at rest and after competition. Overall, we observed a shift from coding to non-coding regio...
Dominant obligate anaerobes revealed in lower respiratory tract infection in horses by 16S rRNA gene sequencing.
The Journal of veterinary medical science    December 20, 2013   Volume 76, Issue 4 587-591 doi: 10.1292/jvms.13-0272
Kinoshita Y, Niwa H, Katayama Y, Hariu K.Obligate anaerobes are important etiological agents in pneumonia or pleuropneumonia in horses, because they are isolated more commonly from ill horses that have died or been euthanized than from those that survive. We performed bacterial identification and antimicrobial susceptibility testing for obligate anaerobes to establish effective antimicrobial therapy. We used 16S rRNA gene sequencing to identify 58 obligate anaerobes and compared the results with those from a phenotypic identification kit. The identification results of 16S rRNA gene sequencing were more reliable than those of the comm...
Comprehensive analysis of the overall codon usage patterns in equine infectious anemia virus.
Virology journal    December 20, 2013   Volume 10 356 doi: 10.1186/1743-422X-10-356
Yin X, Lin Y, Cai W, Wei P, Wang X.Equine infectious anemia virus (EIAV) is an important animal model for understanding the relationship between viral persistence and the host immune response during lentiviral infections. Comparison and analysis of the codon usage model between EIAV and its hosts is important for the comprehension of viral evolution. In our study, the codon usage pattern of EIAV was analyzed from the available 29 full-length EIAV genomes through multivariate statistical methods. Results: Effective number of codons (ENC) suggests that the codon usage among EIAV strains is slightly biased. The ENC-plot analysis d...
A genome wide study of genetic adaptation to high altitude in feral Andean Horses of the páramo.
BMC evolutionary biology    December 17, 2013   Volume 13 273 doi: 10.1186/1471-2148-13-273
Hendrickson SL.Life at high altitude results in physiological and metabolic challenges that put strong evolutionary pressure on performance due to oxidative stress, UV radiation and other factors dependent on the natural history of the species. To look for genes involved in altitude adaptation in a large herbivore, this study explored genome differentiation between a feral population of Andean horses introduced by the Spanish in the 1500s to the high Andes and their Iberian breed relatives. Results: Using allelic genetic models and Fst analyses of ~50 K single nucleotide polymorphisms (SNPs) across the horse...
Distribution of MLH1 foci in horse male synaptonemal complex.
Cytogenetic and genome research    December 12, 2013   Volume 142, Issue 2 87-94 doi: 10.1159/000357152
Al-Jaru A, Goodwin W, Skidmore J, Khazanehdari K.Advances in molecular cytogenetics have provided the opportunity to study events during prophase I of meiosis. Immunofluorescent localization of different meiotic protein components were used to characterize the early stages of the first meiotic division in horse spermatocytes. The frequency and distribution of recombination events during prophase I were investigated using the mutL homolog 1 (MLH1) protein that is known to be associated with these events. The frequency and distribution of MLH1 foci were investigated in pachytene nuclei of 6 fertile stallions, and the average relative synaptone...
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
PloS one    December 4, 2013   Volume 8, Issue 12 e81625 doi: 10.1371/journal.pone.0081625
Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero. We observed a family of horses, in which several mares developed signs of a skin disorder reminiscent of human IP. Cutaneous manifestations in affected horses includ...
Lessons in AIDS vaccine development learned from studies of equine infectious, anemia virus infection and immunity.
Viruses    December 2, 2013   Volume 5, Issue 12 2963-2976 doi: 10.3390/v5122963
Craigo JK, Montelaro RC.Equine infectious anemia (EIA), identified in 1843 [1] as an infectious disease of horses and as a viral infection in 1904, remains a concern in veterinary medicine today. Equine infectious anemia virus (EIAV) has served as an animal model of HIV-1/AIDS research since the original identification of HIV. Similar to other lentiviruses, EIAV has a high propensity for genomic sequence and antigenic variation, principally in its envelope (Env) proteins. However, EIAV possesses a unique and dynamic disease presentation that has facilitated comprehensive analyses of the interactions between the evolv...
Streptococcus zooepidemicus and Streptococcus equi evolution: the role of CRISPRs.
Biochemical Society transactions    November 22, 2013   Volume 41, Issue 6 1437-1443 doi: 10.1042/BST20130165
Waller AS, Robinson C.The host-restricted bacterium Streptococcus equi is the causative agent of equine strangles, the most frequently diagnosed infectious disease of horses worldwide. The disease is characterized by abscessation of the lymph nodes of the head and neck, leading to significant welfare and economic cost. S. equi is believed to have evolved from an ancestral strain of Streptococcus zooepidemicus, an opportunistic pathogen of horses and other animals. Comparison of the genome of S. equi strain 4047 with those of S. zooepidemicus identified examples of gene loss due to mutation and deletion, and gene ga...
Identification of equine influenza virus infection in Asian wild horses (Equus przewalskii).
Archives of virology    November 9, 2013   Volume 159, Issue 5 1159-1162 doi: 10.1007/s00705-013-1908-z
Yin X, Lu G, Guo W, Qi T, Ma J, Zhu C, Zhao S, Pan J, Xiang W.An outbreak of equine influenza was observed in the Asian wild horse population in Xinjiang Province, China, in 2007. Nasal swabs were collected from wild horses and inoculated into 9-10-day SPF embryonated eggs. The complete genome of the isolate was sequenced. A comparison of the amino acid sequence revealed that the isolate was an equine influenza virus strain, which we named A/equine/Xinjiang/4/2007. Each gene of the virus was found to have greater than 99 % homology to equine influenza virus strains of the Florida-2 sublineage, which were circulating simultaneously in China, and a lesser ...
Validation of imputation between equine genotyping arrays.
Animal genetics    October 27, 2013   Volume 45, Issue 1 153 doi: 10.1111/age.12093
McCoy AM, McCue ME.No abstract available
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
PloS one    October 22, 2013   Volume 8, Issue 10 e78280 doi: 10.1371/journal.pone.0078280
Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, Reissmann M, Bortfeldt R, Adelson DL....Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ(2)=1022.00, p<<...
Sarcoid-derived fibroblasts: links between genomic instability, energy metabolism and senescence.
Biochimie    October 19, 2013   Volume 97 163-172 doi: 10.1016/j.biochi.2013.10.010
Potocki L, Lewinska A, Klukowska-Rötzler J, Bielak-Zmijewska A, Grabowska W, Rzeszutek I, Kaminska P, Roga E, Bugno-Poniewierska M, Slota E....Bovine papillomavirus 1 (BPV-1) is a well recognized etiopathogenetic factor in a cancer-like state in horses, namely equine sarcoid disease. Nevertheless, little is known about BPV-1-mediated cell transforming effects. It was shown that BPV-1 triggers genomic instability through DNA hypomethylation and oxidative stress. In the present study, we further characterized BPV-1-positive fibroblasts derived from sarcoid tumors. The focus was on cancer-like features of sarcoid-derived fibroblasts, including cell cycle perturbation, comprehensive DNA damage analysis, end-replication problem, energy me...
Identification of potential platelet alloantigens in the Equidae family by comparison of gene sequences encoding major platelet membrane glycoproteins.
Veterinary clinical pathology    October 4, 2013   Volume 42, Issue 4 437-442 doi: 10.1111/vcp.12084
Boudreaux MK, Humphries DM.Platelet alloantigens in horses may play an important role in the development of neonatal alloimmune thrombocytopenia (NAIT). Objective: The objective of this study was to evaluate genes encoding major platelet glycoproteins within the Equidae family in an effort to identify potential alloantigens. Methods: DNA was isolated from blood samples obtained from Equidae family members, including a Holsteiner-Oldenburg cross, a Quarter horse, a donkey, and a Plains zebra (Equus burchelli). Gene sequences encoding equine platelet membrane glycoproteins IIb, IIIa (integrin subunits αIIb and β3), Ia (...
An in vitro model of the horse gut microbiome enables identification of lactate-utilizing bacteria that differentially respond to starch induction.
PloS one    October 1, 2013   Volume 8, Issue 10 e77599 doi: 10.1371/journal.pone.0077599
Biddle AS, Black SJ, Blanchard JL.Laminitis is a chronic, crippling disease triggered by the sudden influx of dietary starch. Starch reaches the hindgut resulting in enrichment of lactic acid bacteria, lactate accumulation, and acidification of the gut contents. Bacterial products enter the bloodstream and precipitate systemic inflammation. Hindgut lactate levels are normally low because specific bacterial groups convert lactate to short chain fatty acids. Why this mechanism fails when lactate levels rapidly rise, and why some hindgut communities can recover is unknown. Fecal samples from three adult horses eating identical di...
Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.
PloS one    September 30, 2013   Volume 8, Issue 9 e75071 doi: 10.1371/journal.pone.0075071
Haase B, Signer-Hasler H, Binns MM, Obexer-Ruff G, Hauswirth R, Bellone RR, Burger D, Rieder S, Wade CM, Leeb T.Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white fac...
Molecular phylogeny of Indian horse breeds with special reference to Manipuri pony based on mitochondrial D-loop.
Molecular biology reports    September 26, 2013   Volume 40, Issue 10 5861-5867 doi: 10.1007/s11033-013-2692-2
Devi KM, Ghosh SK.Manipuri pony is the geographically distant breed of horse from the five recognized horse breeds found in the Indian subcontinent. The phylogenetic relationship of Manipuri pony with the other breeds is unknown. The diversity in the mitochondrial (mt) DNA D-loop region is employed as an important tool to understand the origin and genetic diversification of domestic horses and to examine genetic relationships among breeds around the world. This study was carried out to understand the maternal lineages of Manipuri pony using the 247 bp region of the mtDNA D-loop. The dataset comprised of eleven ...
Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
PloS one    September 23, 2013   Volume 8, Issue 9 e75639 doi: 10.1371/journal.pone.0075639
Andersson LS, Wilbe M, Viluma A, Cothran G, Ekesten B, Ewart S, Lindgren G.Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome is a heritable eye disorder mainly affecting silver colored horses. Clinically, the disease manifests in two distinct classes depending on the horse genotype. Horses homozygous for the mutant allele present with a wide range of ocular defects, such as iris stromal hypoplasia, abnormal pectinate ligaments, megaloglobus, iridociliary cysts and cataracts. The phenotype of heterozygous horses is less severe and predominantly includes iridociliary cysts, which occasionally extend into the temporal retina. In order to determine the genetic ...
Isolation of RNA from equine peripheral blood cells: comparison of methods.
SpringerPlus    September 22, 2013   Volume 2, Issue 1 478 doi: 10.1186/2193-1801-2-478
Jiang Z, Uboh CE, Chen J, Soma LR.Gene expression studies in equine research involve the use of whole blood samples as a vital source of RNA. To determine the optimal method for RNA isolation from equine whole blood, we compared three RNA isolation strategies using different commercially available kits to evaluate the yield and quality of equine RNA. All 3 methods produced RNA with high quality. Though it did not produce the highest yield, combining the quality, yield and the need for the downstream application in our project, LeukoLOCK™ total RNA isolation system was the best RNA extraction method.
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