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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.
Application of Genomic Estimation Methods of Inbreeding and Population Structure in an Arabian Horse Herd.
The Journal of heredity    April 27, 2017   Volume 108, Issue 4 361-368 doi: 10.1093/jhered/esx025
Al Abri MA, König von Borstel U, Strecker V, Brooks SA.Horse breeders rely heavily on pedigrees for identification of ancestry in breeding stock. Inaccurate pedigrees may erroneously assign individuals to false lineages or breed memberships resulting in wrong estimates of inbreeding and coancestry. Moreover, discrepancies in pedigree records can lead breeders seeking to limit inbreeding into making misguided breeding decisions. Genome-wide SNPs provide a quantitative tool to aid in the resolution of lineage assignments and the calculation of genomic measures of relatedness. The aim of this project was to pilot a comparison between pedigree and gen...
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.
Animal genetics    April 26, 2017   Volume 48, Issue 4 483-485 doi: 10.1111/age.12556
Dürig N, Jude R, Holl H, Brooks SA, Lafayette C, Jagannathan V, Leeb T.White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For the present study, we re-investigated a large horse family segregating a variable white spotting phenotype, for which conventional Sanger sequencing of the candidate genes' individual exons had failed to reveal the causative variant. We obtained whole genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes. This...
Complete mitochondrial genome sequences of Korean native horse from Jeju Island: uncovering the spatio-temporal dynamics.
Molecular biology reports    April 21, 2017   Volume 44, Issue 2 233-242 doi: 10.1007/s11033-017-4101-8
Yoon SH, Kim J, Shin D, Cho S, Kwak W, Lee HK, Park KD, Kim H.The Korean native horse (Jeju horse) is one of the most important animals in Korean historical, cultural, and economical viewpoints. In the early 1980s, the Jeju horse was close to extinction. The aim of this study is to explore the phylogenomics of Korean native horse focusing on spatio-temporal dynamics. We determined complete mitochondrial genome sequences for the first Korean native (n = 6) and additional Mongolian (n = 2) horses. Those sequences were analyzed together with 143 published ones using Bayesian coalescent approach as well as three different phylogenetic analysis method...
Evaluation of circulating miRNAs during late pregnancy in the mare.
PloS one    April 7, 2017   Volume 12, Issue 4 e0175045 doi: 10.1371/journal.pone.0175045
Loux SC, Scoggin KE, Bruemmer JE, Canisso IF, Troedsson MH, Squires EL, Ball BA.MicroRNAs (miRNAs) are small, non-coding RNAs which are produced throughout the body. Individual tissues tend to have a specific expression profile and excrete many of these miRNAs into circulation. These circulating miRNAs may be diagnostically valuable biomarkers for assessing the presence of disease while minimizing invasive testing. In women, numerous circulating miRNAs have been identified which change significantly during pregnancy-related complications (e.g. chorioamnionitis, eclampsia, recurrent pregnancy loss); however, no prior work has been done in this area in the horse. To identif...
Draft Genome Sequences of Two Clinical Isolates of Burkholderia mallei Obtained from Nasal Swabs of Glanderous Equines in India.
Genome announcements    April 6, 2017   Volume 5, Issue 14 doi: 10.1128/genomeA.00063-17
Singha H, Malik P, Saini S, Khurana SK, Elschner MC, Mertens K, Barth SA, Tripathi BN, Singh RK.Burkholderia mallei is a Gram-negative coccobacillus which causes glanders-a fatal disease of equines that may occasionally be transmitted to humans. Several cases of outbreaks have been reported from India since 2006. This paper presents draft genome sequences of two B. mallei strains isolated from equines affected by glanders in India.
Genomewide association study reveals a risk locus for equine metabolic syndrome in the Arabian horse.
Journal of animal science    April 6, 2017   Volume 95, Issue 3 1071-1079 doi: 10.2527/jas.2016.1221
Lewis SL, Holl HM, Streeter C, Posbergh C, Schanbacher BJ, Place NJ, Mallicote MF, Long MT, Brooks SA.Equine obesity can cause life-threatening secondary chronic conditions, similar to those in humans and other animal species. Equine metabolic syndrome (EMS), primarily characterized by hyperinsulinemia, is often present in obese horses and ponies. Due to clinical similarities to conditions such as pituitary pars intermedia dysfunction (formerly equine Cushing's disease), conclusive diagnosis of EMS often proves challenging. Aside from changes in diet and exercise, few targeted treatments are available for EMS, emphasizing the need for early identification of at-risk individuals to enable imple...
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes.
Animal genetics    April 5, 2017   Volume 48, Issue 4 497-498 doi: 10.1111/age.12554
Holl HM, Brooks SA, Carpenter ML, Bustamante CD, Lafayette C.No abstract available
Transcriptome profiling of Arabian horse blood during training regimens.
BMC genetics    April 5, 2017   Volume 18, Issue 1 31 doi: 10.1186/s12863-017-0499-1
Ropka-Molik K, Stefaniuk-Szmukier M, Żukowski K, Piórkowska K, Gurgul A, Bugno-Poniewierska M.Arabian horses are believed to be one of the oldest and most influential horse breeds in the world. Blood is the main tissue involved in maintaining body homeostasis, and it is considered a marker of the processes taking place in the other tissues. Thus, the aim of our study was to identify the genetic basis of changes occurring in the blood of Arabian horses subjected to a training regimen and to compare the global gene expression profiles between different training periods (T: after a slow canter phase that is considered a conditioning phase, T: after an intense gallop phase, and T: at the e...
A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.
G3 (Bethesda, Md.)    April 3, 2017   Volume 7, Issue 4 1315-1321 doi: 10.1534/g3.117.039511
Bauer A, Hiemesch T, Jagannathan V, Neuditschko M, Bachmann I, Rieder S, Mikko S, Penedo MC, Tarasova N, Vitková M, Sirtori N, Roccabianca P, Leeb T....Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome. Whole genome sequencing of two affected horses, two obligate carriers, and...
Genomic structure of the horse major histocompatibility complex class II region resolved using PacBio long-read sequencing technology.
Scientific reports    March 31, 2017   Volume 7 45518 doi: 10.1038/srep45518
Viļuma A, Mikko S, Hahn D, Skow L, Andersson G, Bergström TF.The mammalian Major Histocompatibility Complex (MHC) region contains several gene families characterized by highly polymorphic loci with extensive nucleotide diversity, copy number variation of paralogous genes, and long repetitive sequences. This structural complexity has made it difficult to construct a reliable reference sequence of the horse MHC region. In this study, we used long-read single molecule, real-time (SMRT) sequencing technology from Pacific Biosciences (PacBio) to sequence eight Bacterial Artificial Chromosome (BAC) clones spanning the horse MHC class II region. The final asse...
Genome-Wide Identification and Evolutionary Analysis of Sarcocystis neurona Protein Kinases.
Pathogens (Basel, Switzerland)    March 21, 2017   Volume 6, Issue 1 12 doi: 10.3390/pathogens6010012
Murungi EK, Kariithi HM.The apicomplexan parasite Sarcocystis neurona causes equine protozoal myeloencephalitis (EPM), a degenerative neurological disease of horses. Due to its host range expansion, S. neurona is an emerging threat that requires close monitoring. In apicomplexans, protein kinases (PKs) have been implicated in a myriad of critical functions, such as host cell invasion, cell cycle progression and host immune response evasion. Here, we used various bioinformatics methods to define the kinome of S. neurona and phylogenetic relatedness of its PKs to other apicomplexans. We identified 97 putative PKs clust...
Identification and Expression of Equine MER-Derived miRNAs.
Molecules and cells    March 21, 2017   Volume 40, Issue 4 262-270 doi: 10.14348/molcells.2017.2295
Gim JA, Kim HS.MicroRNAs (miRNAs) are single-stranded, small RNAs (21-23 nucleotides) that function in gene silencing and translational inhibition via the RNA interference mechanism. Most miRNAs originate from host genomic regions, such as intergenic regions, introns, exons, and transposable elements (TEs). Here, we focused on the palindromic structure of medium reiteration frequencies (MERs), which are similar to precursor miRNAs. Five MER consensus sequences (MER5A1, MER53, MER81, MER91C, and MER117) were matched with paralogous transcripts predicted to be precursor miRNAs in the horse genome (equCab2) and...
Serum snoRNAs as biomarkers for joint ageing and post traumatic osteoarthritis.
Scientific reports    March 2, 2017   Volume 7 43558 doi: 10.1038/srep43558
Steinbusch MM, Fang Y, Milner PI, Clegg PD, Young DA, Welting TJ, Peffers MJ.The development of effective treatments for the age-related disease osteoarthritis and the ability to predict disease progression has been hampered by the lack of biomarkers able to demonstrate the course of the disease. Profiling the expression patterns of small nucleolar RNAs (snoRNAs) in joint ageing and OA may provide diagnostic biomarkers and therapeutic targets. This study determined expression patterns of snoRNAs in joint ageing and OA and examined them as potential biomarkers. Using SnoRNASeq and real-time quantitative PCR (qRT-PCR) we demonstrate snoRNA expression levels in murine age...
Purified horse milk exosomes contain an unpredictable small number of major proteins.
Biochimie open    March 1, 2017   Volume 4 61-72 doi: 10.1016/j.biopen.2017.02.004
Sedykh SE, Purvinish LV, Monogarov AS, Burkova EE, Grigor'eva AE, Bulgakov DV, Dmitrenok PS, Vlassov VV, Ryabchikova EI, Nevinsky GA.Exosomes are 40-100 nm nanovesicles containing RNA and different proteins. Exosomes containing proteins, lipids, mRNAs, and microRNAs are important in intracellular communication and immune function. Exosomes from different sources are usually obtained by combination of centrifugation and ultracentrifugation and according to published data can contain from a few dozens to thousands of different proteins. Crude exosome preparations from milk of eighteen horses were obtained for the first time using several standard centrifugations. Exosome preparations were additionally purified by FPLC gel fi...
Comprehensive characteristics of microRNA expression profile of equine sarcoids.
Biochimie    March 1, 2017   Volume 137 20-28 doi: 10.1016/j.biochi.2017.02.017
Pawlina K, Gurgul A, Szmatoła T, Koch C, Mählmann K, Witkowski M, Bugno-Poniewierska M.Equine sarcoids are the most common neoplasms occurring in horses. Despite frequent occurrence, they are still not well described at the molecular level. Thus, in the present study, we performed a comprehensive comparative analysis of sarcoid miRNAome profile to identify aberrantly expressed microRNAs, along with their structural variants, potentially useful as biomarkers and, in a wider perspective, broaden the knowledge about this tumor and underlying mechanisms. To this end, we conducted next generation sequencing and as a result we identified both known and potentially novel miRNAs. Differ...
Genomics and genetics: A daily double for the horse industry.
Equine veterinary journal    February 22, 2017   Volume 49, Issue 3 260-262 doi: 10.1111/evj.12668
Rothschild MF.No abstract available
Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.
Animal genetics    February 22, 2017   Volume 48, Issue 4 412-419 doi: 10.1111/age.12543
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) mar...
The relationship between mitochondrial DNA copy number and stallion sperm function.
Theriogenology    February 21, 2017   Volume 94 94-99 doi: 10.1016/j.theriogenology.2017.02.015
Darr CR, Moraes LE, Connon RE, Love CC, Teague S, Varner DD, Meyers SA.Mitochondrial DNA (mtDNA) copy number has been utilized as a measure of sperm quality in several species including mice, dogs, and humans, and has been suggested as a potential biomarker of fertility in stallion sperm. The results of the present study extend this recent discovery using sperm samples from American Quarter Horse stallions of varying age. By determining copy number of three mitochondrial genes, cytochrome b (CYTB), NADH dehydrogenase 1 (ND1) and NADH dehydrogenase 4 (ND4), instead of a single gene, we demonstrate an improved understanding of mtDNA fate in stallion sperm mitochond...
Comparative analysis of DNA methylation patterns of equine sarcoid and healthy skin samples.
Veterinary and comparative oncology    February 21, 2017   Volume 16, Issue 1 37-46 doi: 10.1111/vco.12308
Semik E, Ząbek T, Gurgul A, Fornal A, Szmatoła T, Pawlina K, Wnuk M, Klukowska-Rötzler J, Koch C, Mählmann K, Bugno-Poniewierska M.In this study, for the first time we report the genome-wide DNA methylation profile of skin tumour in horses and describe differentially methylated genomic regions (DMRs) with respect to healthy skin. Methods: The comparative analysis of DNA methylation patterns detected using Reduced Representation Bisulfite Sequencing (RRBS) technique, allowed identification of 136 regions showing differential methylation between sarcoid and normal skin tissue. Results: Most of the identified DMRs were short fragments, less than 1 kb in size, located in the intergenic regions. Among identified DMRs there wer...
Understanding the response to endurance exercise using a systems biology approach: combining blood metabolomics, transcriptomics and miRNomics in horses.
BMC genomics    February 17, 2017   Volume 18, Issue 1 187 doi: 10.1186/s12864-017-3571-3
Mach N, Ramayo-Caldas Y, Clark A, Moroldo M, Robert C, Barrey E, López JM, Le Moyec L.Endurance exercise in horses requires adaptive processes involving physiological, biochemical, and cognitive-behavioral responses in an attempt to regain homeostasis. We hypothesized that the identification of the relationships between blood metabolome, transcriptome, and miRNome during endurance exercise in horses could provide significant insights into the molecular response to endurance exercise. For this reason, the serum metabolome and whole-blood transcriptome and miRNome data were obtained from ten horses before and after a 160 km endurance competition. We obtained a global regulatory ...
Pedigree analysis of the Turkish Arab horse population: structure, inbreeding and genetic variability.
Animal : an international journal of animal bioscience    February 13, 2017   Volume 11, Issue 9 1449-1456 doi: 10.1017/S175173111700009X
Duru S.The aim of this study was to evaluate genetic variability in the Turkish Arab horse population using pedigree information. This study is the first detailed pedigree analysis of the breed in Turkey. Pedigree data were collected from the National Studbook. The pedigree data for 23 668 horses, born between 1904 and 2014, were used in the analysis. From this data set, a reference population (RP) of 14 838 animals symbolising the last generation was defined. Demographic parameters, the inbreeding level (F), the average relatedness (AR), the effective population size (N e), the effective number of f...
Complete mitochondrial genome of an extinct Equus (Sussemionus) ovodovi specimen from Denisova cave (Altai, Russia).
Mitochondrial DNA. Part B, Resources    February 6, 2017   Volume 2, Issue 1 79-81 doi: 10.1080/23802359.2017.1285209
Druzhkova AS, Makunin AI, Vorobieva NV, Vasiliev SK, Ovodov ND, Shunkov MV, Trifonov VA, Graphodatsky AS. is an extinct subgenus of first characterized and delineated in 2010. The almost complete mitochondrial genome is available only for a single specimen of - a 40,000 years old from Proskuryakova cave (Khakassia, Russia). Our studies of ancient horses from Denisova cave (Altai, Russia) revealed mitochondrial DNA of this species in a 32,000 years old sample. Using alignments to multiple mitochondrial genomes of non-caballine equids, we recovered 100% complete mitochondrial genome of for the first time. Phylogenetic analysis demonstrates close relationship between this individual and the one ...
Genomic analysis of four strains of Corynebacterium pseudotuberculosis bv. Equi isolated from horses showing distinct signs of infection.
Standards in genomic sciences    January 31, 2017   Volume 12 16 doi: 10.1186/s40793-017-0234-6
Baraúna RA, Ramos RTJ, Veras AAO, de Sá PHCG, Guimarães LC, das Graças DA, Carneiro AR, Edman JM, Spier SJ, Azevedo V, Silva A.The genomes of four strains (MB11, MB14, MB30, and MB66) of the species Corynebacterium pseudotuberculosis biovar equi were sequenced on the Ion Torrent PGM platform, completely assembled, and their gene content and structure were analyzed. The strains were isolated from horses with distinct signs of infection, including ulcerative lymphangitis, external abscesses on the chest, or internal abscesses on the liver, kidneys, and lungs. The average size of the genomes was 2.3 Mbp, with 2169 (Strain MB11) to 2235 (Strain MB14) predicted coding sequences (CDSs). An optical map of the MB11 strain gen...
Association of low race performance with mtDNA haplogroup L3b of Australian thoroughbred horses.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis    January 27, 2017   Volume 29, Issue 2 323-330 doi: 10.1080/24701394.2016.1278535
Lin X, Zheng HX, Davie A, Zhou S, Wen L, Meng J, Zhang Y, Aladaer Q, Liu B, Liu WJ, Yao XK.Mitochondrial DNA (mtDNA) encodes the genes for respiratory chain sub-units that determine the efficiency of oxidative phosphorylation in mitochondria. The aim of this study was to determine if there were any haplogroups and variants in mtDNA that could be associated with athletic performance of Thoroughbred horses. The whole mitochondrial genomes of 53 maternally unrelated Australian Thoroughbred horses were sequenced and an association study was performed with the competition histories of 1123 horses within their maternal lineages. A horse mtDNA phylogenetic tree was constructed based on a t...
Deletion of 2.7 kb near HOXD3 in an Arabian horse with occipitoatlantoaxial malformation.
Animal genetics    January 23, 2017   Volume 48, Issue 3 287-294 doi: 10.1111/age.12531
Bordbari MH, Penedo MCT, Aleman M, Valberg SJ, Mickelson J, Finno CJ.In the horse, the term occipitoatlantoaxial malformation (OAAM) is used to describe a developmental defect in which the first cervical vertebra (atlas) resembles the base of the skull (occiput) and the second cervical vertebra (axis) resembles the atlas. Affected individuals demonstrate an abnormal posture and varying degrees of ataxia. The homeobox (HOX) gene cluster is involved in the development of both the axial and appendicular skeleton. Hoxd3-null mice demonstrate a strikingly similar phenotype to Arabian foals with OAAM. Whole-genome sequencing was performed in an OAAM-affected horse (O...
Tissue resolved, gene structure refined equine transcriptome.
BMC genomics    January 20, 2017   Volume 18, Issue 1 103 doi: 10.1186/s12864-016-3451-2
Mansour TA, Scott EY, Finno CJ, Bellone RR, Mienaltowski MJ, Penedo MC, Ross PJ, Valberg SJ, Murray JD, Brown CT.Transcriptome interpretation relies on a good-quality reference transcriptome for accurate quantification of gene expression as well as functional analysis of genetic variants. The current annotation of the horse genome lacks the specificity and sensitivity necessary to assess gene expression especially at the isoform level, and suffers from insufficient annotation of untranslated regions (UTR) usage. We built an annotation pipeline for horse and used it to integrate 1.9 billion reads from multiple RNA-seq data sets into a new refined transcriptome. This equine transcriptome integrates eight d...
Generation of Immortalized Equine Chondrocytes With Inducible Sox9 Expression Allows Control of Hypertrophic Differentiation.
Journal of cellular biochemistry    January 10, 2017   Volume 118, Issue 5 1201-1215 doi: 10.1002/jcb.25773
Gurusinghe S, Hilbert B, Trope G, Wang L, Bandara N, Strappe P.Immortalization of chondrocytes enables long term in vitro culture; however, the chondrogenic capacity of transformed cells varies, thus highlighting the need to develop a proliferative and tuneable chondrocyte cell line where hypertrophic differentiation can be controlled. In this study the SV40 large T antigen and human telomerase reverse transcriptase were employed to immortalize pooled equine chondrocytes through lentiviral vector mediated transduction either singly or on combination. Transformed chondrocytes proliferated stably over multiple passages, but resulted in significantly lower e...
[Historic treasures of Swiss horse breeding].
Schweizer Archiv fur Tierheilkunde    January 7, 2017   Volume 159, Issue 1 51-57 doi: 10.17236/sat00101
Meier H.Both a mandate of the Bernese Government (1705) and statements in the Georgica Helvetica of 1706 prove that Swiss horse breeding was lucrative and of good quality at that time. However, the political turmoil at the transition from the 18th to 19th century and excessive sales to France and Italy led to a severe drop in quantity as well in quality. The exhibition of horses in Aarau in 1865 showed a wretched state of the material. In the same year, Rudolf Zangger wrote a guide for the discussion of horse breeding in Switzerland. In the following year (1866), Johann Jakob Rychner published a repor...
Genomes of Fasciola hepatica from the Americas Reveal Colonization with Neorickettsia Endobacteria Related to the Agents of Potomac Horse and Human Sennetsu Fevers.
PLoS genetics    January 6, 2017   Volume 13, Issue 1 e1006537 doi: 10.1371/journal.pgen.1006537
McNulty SN, Tort JF, Rinaldi G, Fischer K, Rosa BA, Smircich P, Fontenla S, Choi YJ, Tyagi R, Hallsworth-Pepin K, Mann VH, Kammili L, Latham PS....Food borne trematodes (FBTs) are an assemblage of platyhelminth parasites transmitted through the food chain, four of which are recognized as neglected tropical diseases (NTDs). Fascioliasis stands out among the other NTDs due to its broad and significant impact on both human and animal health, as Fasciola sp., are also considered major pathogens of domesticated ruminants. Here we present a reference genome sequence of the common liver fluke, Fasciola hepatica isolated from sheep, complementing previously reported isolate from cattle. A total of 14,642 genes were predicted from the 1.14 GB gen...
LPS-induced modules of co-expressed genes in equine peripheral blood mononuclear cells.
BMC genomics    January 5, 2017   Volume 18, Issue 1 34 doi: 10.1186/s12864-016-3390-y
Pacholewska A, Marti E, Leeb T, Jagannathan V, Gerber V.Lipopolysaccharide (endotoxin, LPS) is a strong inducer of the innate immune response. It is widespread in our environment, e.g. in house dust and contributes to asthma. Compared to humans, horses are even more sensitive to LPS. However, data on LPS effects on the equine transcriptome are very limited. Using RNA-seq we analysed LPS-induced differences in the gene expression in equine peripheral blood mononuclear cells at the gene and gene-network level in two half-sib families and one group of unrelated horses. 24 h-LPS challenge of equine immune cells resulted in substantial changes in the t...
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