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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.
Exome sequencing in genomic regions related to racing performance of Quarter Horses.
Journal of applied genetics    January 21, 2019   Volume 60, Issue 1 79-86 doi: 10.1007/s13353-019-00483-1
Pereira GL, Malheiros JM, Ospina AMT, Chardulo LAL, Curi RA.Among horses selected for speed, the racing line of Quarter Horses is characterized by high performance in sprint races, with these animals being considered the fastest horses in the world. However, few studies have investigated in more detail the polymorphisms and genes that act on this trait. The objective of this study was to analyze exomes and UTRs in regions previously associated with this trait by GWAS in Quarter Horse racehorses with contrasting maximum speed index (SImax), prospecting causal gene polymorphisms that are related to or are in strong linkage disequilibrium with racing perf...
Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.
Animal genetics    January 15, 2019   Volume 50, Issue 2 172-174 doi: 10.1111/age.12762
Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T.White spotting phenotypes in horses are highly valued in some breeds. They are quite variable and may range from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for white spotting phenotypes in horses. For the present study, we investigated an American Paint Horse family segregating a phenotype involving white spotting and blue eyes. Six of eight horses with the white-spotting phenotype were deaf. We obtained whole-genome sequence data from an affected horse and specifically searched for structural variants in the known ...
Hoofbeats, horses, and genetic red flags.
Medical teacher    January 11, 2019   Volume 41, Issue 7 847-848 doi: 10.1080/0142159X.2018.1533244
Weiler T, Chakravarty T, Landa Galindez A.No abstract available
TBX3 and ASIP genotypes reveal discrepancies in officially recorded coat colors of Hucul horses.
Animal : an international journal of animal bioscience    January 7, 2019   Volume 13, Issue 9 1811-1816 doi: 10.1017/S1751731118003506
Mackowski M, Wodas L, Brooks SA, Cieslak J.Although only a few specific pigmentation types are allowed within the Hucul horse registry, accurate determination of particular coat colors can be uncertain due to the presence of variation in color shades and segregation of multiple dun dilution variants. Herein, we genotyped the previously identified polymorphisms within two coat color loci TBX3 (T-box 3) and ASIP (Agouti Signaling Protein) in 462 Hucul individuals and compared the genotype predicted phenotypes with observed pigmentation types provided in the Polish Horse Breeders Association database. We identified disagreement between th...
The contribution of myostatin (MSTN) and additional modifying genetic loci to race distance aptitude in Thoroughbred horses racing in different geographic regions.
Equine veterinary journal    January 5, 2019   Volume 51, Issue 5 625-633 doi: 10.1111/evj.13058
Hill EW, McGivney BA, Rooney MF, Katz LM, Parnell A, MacHugh DE.Race distance aptitude in Thoroughbred horses is highly heritable and is influenced largely by variation at the myostatin gene (MSTN). Objective: In addition to MSTN, we hypothesised that other modifying loci contribute to best race distance. Methods: Using 3006 Thoroughbreds, including 835 'elite' horses, which were >3 years old, had race records and were sampled from Europe/Middle-East, Australia/New Zealand, North America and South Africa, we performed genome-wide association (GWA) tests and separately developed a genomic prediction algorithm to comprehensively catalogue additive geneti...
Genetic Diversity of Persian Arabian Horses and Their Relationship to Other Native Iranian Horse Breeds.
The Journal of heredity    December 28, 2018   Volume 110, Issue 2 173-182 doi: 10.1093/jhered/esy061
Sadeghi R, Moradi-Shahrbabak M, Miraei Ashtiani SR, Schlamp F, Cosgrove EJ, Antczak DF.The principal aims of this study were to explore genetic diversity and genome-wide selection signatures in Persian Arabian horses and to determine genetic relationship of Persian Arabians with other Iranian horse breeds. We evaluated 71 horses from 8 matrilineal strains tracing to 47 mares from the mid to late 19th century, using the equine 670k single nucleotide polymorphism (SNP) BeadChip. Mean observed and expected heterozygosity were (0.43) and (0.45), respectively, average inbreeding measures (inbreeding estimates based on runs of homozygosity and pedigree information) were low, indicatin...
Molecular characterization and phylogenetic analysis of Trypanosoma evansi from Northern India based on 18S ribosomal gene.
Veterinary parasitology, regional studies and reports    December 26, 2018   Volume 15 100259 doi: 10.1016/j.vprsr.2018.100259
Kumar R, Sarkhel SP, Kumar S, Batra K, Sethi K, Jain S, Kumar S, Tripathi BN.Six Trypanosoma evansi isolates were collected from ponies (PH1 and PK6), camel (CB2), donkeys (DJ3 and DH4) and cattle (CK5) from different States of Northern India (Haryana, Rajasthan, Uttar Pradesh and Gujarat) for molecular characterization based on 18S rRNA gene. The 18S rRNA gene (2251 bp) of different isolates was amplified, cloned and custom sequenced separately. Based on sequence and phylogenetic analysis of all six isolates, collected from different hosts as well as geographical areas, were having high identity among Indian T. evansi strains (99.7%) and with other strains of T. eva...
Genetic relationship between Miyako and Yonaguni horses native to Okinawa based on polymorphisms of microsatellites.
Journal of equine science    December 18, 2018   Volume 29, Issue 4 87-90 doi: 10.1294/jes.29.87
Senju N, Tozaki T, Kakoi H, Matsuyama R, Nakamura K, Takasu M.The Miyako and Yonaguni horses are native horses in Okinawa. Here, we evaluated their genetic relationship using microsatellite data and Kiso horses, which have four subpopulations, as a reference population for evaluating this relationship. Microsatellite data from 35 Miyako, 78 Yonaguni, and 172 Kiso horses were evaluated using the STRUCTURE software for analyzing multilocus genotype data to investigate the population structures and their underlying relationship. The results of the STRUCTURE analysis were stable when ΔK was 2, suggesting that the Okinawan horses are different from the Kiso ...
Translation and application of equine genomics: The Havemeyer principles.
Equine veterinary journal    December 13, 2018   Volume 51, Issue 2 273 doi: 10.1111/evj.13051
Bailey E, Finno C.No abstract available
Genome-wide association study of equine herpesvirus type 1-induced myeloencephalopathy identifies a significant single nucleotide polymorphism in a platelet-related gene.
Veterinary journal (London, England : 1997)    December 12, 2018   Volume 245 49-54 doi: 10.1016/j.tvjl.2018.12.013
Brosnahan MM, Al Abri MA, Brooks SA, Antczak DF, Osterrieder N.Equine herpesvirus type 1 (EHV-1)-induced myeloencephalopathy (EHM) is a neurologic disease of horses that represents one outcome of infection. The neurologic form of disease occurs in a subset of infected horses when virus-induced endothelial cell damage triggers vasculitis and subsequent ischemic insult to the central nervous system. EHM causes considerable animal suffering and economic loss for the horse industry. Virus polymorphisms have been previously associated with disease outcome but cannot fully explain why only some horses develop EHM. This study investigated the role of host geneti...
Data on whole genome sequencing of the oomycete Pythium insidiosum strain CBS 101555 from a horse with pythiosis in Brazil.
BMC research notes    December 11, 2018   Volume 11, Issue 1 880 doi: 10.1186/s13104-018-3968-3
Krajaejun T, Kittichotirat W, Patumcharoenpol P, Rujirawat T, Lohnoo T, Yingyong W.The oomycete Pythium insidiosum infects humans and animals worldwide, and causes the life-threatening condition, called pythosis. Most patients lose infected organs or die from the disease. Comparative genomic analyses of different P. insidiosum strains could provide new insights into its pathobiology, and can lead to discovery of an effective treatment method. Several draft genomes of P. insidiosum are publicly available: three from Asia (Thailand), and one each from North (the United States) and Central (Costa Rica) Americas. We report another draft genome of P. insidiosum isolated from Sout...
Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses.
Animal genetics    December 7, 2018   Volume 50, Issue 1 74-77 doi: 10.1111/age.12753
Jagannathan V, Gerber V, Rieder S, Tetens J, Thaller G, Drögemüller C, Leeb T.Whole-genome sequencing studies are vital to gain a thorough understanding of genomic variation. Here, we summarize the results of a whole-genome sequencing study comprising 88 horses and ponies from diverse breeds at 19.1× average coverage. The paired-end reads were mapped to the current EquCab3.0 horse reference genome assembly, and we identified approximately 23.5 million single nucleotide variants and 2.3 million short indel variants. Our dataset included at least 7 million variants that were not previously reported. On average, each individual horse genome carried ∼5.7 million single n...
MicroRNA characterization in equine induced pluripotent stem cells.
PloS one    December 3, 2018   Volume 13, Issue 12 e0207074 doi: 10.1371/journal.pone.0207074
Moro LN, Amin G, Furmento V, Waisman A, Garate X, Neiman G, La Greca A, Santín Velazque NL, Luzzani C, Sevlever GE, Vichera G, Miriuka SG.Cell reprogramming has been well described in mouse and human cells. The expression of specific microRNAs has demonstrated to be essential for pluripotent maintenance and cell differentiation, but not much information is available in domestic species. We aim to generate horse iPSCs, characterize them and evaluate the expression of different microRNAs (miR-302a,b,c,d, miR-205, miR-145, miR-9, miR-96, miR-125b and miR-296). Two equine iPSC lines (L2 and L3) were characterized after the reprogramming of equine fibroblasts with the four human Yamanaka's factors (OCT-4/SOX-2/c-MYC/KLF4). The plurip...
Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression.
Journal of veterinary internal medicine    December 2, 2018   Volume 33, Issue 1 241-250 doi: 10.1111/jvim.15375
Unger L, Jagannathan V, Pacholewska A, Leeb T, Gerber V.Currently no methods are available to predict the clinical outcome of individual horses with equine sarcoid (ES) disease. Objective: To investigate if whole blood microRNA (miRNA) profiles can predict the long-term development of ES tumors. Methods: Five horses with regression and 5 with progression of ES lesions monitored over 5-7 years and 5 control horses free of ES for at least 5 years. Methods: For this cohort study, RNA extracted from whole blood samples from the regression, progression, and control groups was used for high throughput sequencing. Known and novel miRNAs were identified us...
Sequence and functional variability of Toll-like receptor 9 gene in equines.
Molecular immunology    November 28, 2018   Volume 105 276-282 doi: 10.1016/j.molimm.2018.10.010
Manuja A, Manuja BK, Singha H.Significant structural differences in the extracellular domain of toll-like receptor 9 (TLR9) account for species-specific recognition of its ligand CpG-ODN sequences. TLR9 is extensively studied in human, mice and some domestic animals. The recognition ability appears to be utilized differently by various species and breeds, but so far no comprehensive study exists about the equine TLR9 gene. We characterized TLR9 sequences of Marwari and Zanskari breeds of horses and Poitu donkey. We sequenced and identified the protein coding regions of equine TLR9 and compared with other animals and human ...
MicroRNA fingerprints in serum and whole blood of sarcoid-affected horses as potential non-invasive diagnostic biomarkers.
Veterinary and comparative oncology    November 28, 2018   Volume 17, Issue 1 107-117 doi: 10.1111/vco.12451
Unger L, Gerber V, Pacholewska A, Leeb T, Jagannathan V.Serum and whole blood microRNA (miRNA) fingerprints have been proposed as a new class of non-invasive human cancer biomarkers. In this study, we compared equine sarcoid (ES) disease-specific serum and whole blood miRNA fingerprints and correlated them to miRNA expression in sarcoid tissue. After high throughput sequencing, miRNA differential expression analysis between six ES-affected and five control horses was carried out in serum and whole blood using a DESeq algorithm, accounting for the influence of hemolysis and the white blood cell count. Target gene, pathway prediction and enrichment a...
Morphological and genetic diversity of Pura Raza Español horse with regard to the coat colour.
Animal science journal = Nihon chikusan Gakkaiho    November 22, 2018   Volume 90, Issue 1 14-22 doi: 10.1111/asj.13102
Gene mutations influencing melanocytes also impact on physiological and behavioural functions. In this study, we investigated their association with four different coat colours in the Pura Raza Español (PRE) horse using morphological traits and molecular datasets. Four different subpopulations were identified according to individual coat colour: grey, bay, chestnut and black. Coat colour significantly associated with morphological measurements. Observed and expected heterozygosity values were low in grey compared with the other three subpopulations, suggesting the presence of unique ancestral...
Improved reference genome for the domestic horse increases assembly contiguity and composition.
Communications biology    November 16, 2018   Volume 1 197 doi: 10.1038/s42003-018-0199-z
Kalbfleisch TS, Rice ES, DePriest MS, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ....Recent advances in genomic sequencing technology and computational assembly methods have allowed scientists to improve reference genome assemblies in terms of contiguity and composition. EquCab2, a reference genome for the domestic horse, was released in 2007. Although of equal or better quality compared to other first-generation Sanger assemblies, it had many of the shortcomings common to them. In 2014, the equine genomics research community began a project to improve the reference sequence for the horse, building upon the solid foundation of EquCab2 and incorporating new short-read data, lon...
Identification and expression analysis of a novel miRNA derived from ERV-E1 LTR in Equus caballus.
Gene    November 16, 2018   Volume 687 238-245 doi: 10.1016/j.gene.2018.11.043
Jo A, Lee HE, Kim HS.Horses (Equus caballus) have been domesticated and bred to enhance speed, strength, and agility. Members of the Equus caballus Endogenous Retrovirus (EqERV) family affect several of these abilities in horses. EqERV elements have been integrated in the horse genome during evolution and generate repeat elements such as long terminal repeats (LTRs). LTR sequences are involved in retrovirus replication and play an essential function in post-transcriptional control mechanisms, such as by providing binding sites for microRNAs (miRNAs) or generating miRNA precursors. In this study, we identified a no...
Induction of Recombinant Lectin Expression by an Artificially Constructed Tandem Repeat Structure: A Case Study Using Bryopsis plumosa Mannose-Binding Lectin.
Biomolecules    November 14, 2018   Volume 8, Issue 4 146 doi: 10.3390/biom8040146
Hwang HJ, Han JW, Jeon H, Han JW.Lectin is an important protein in medical and pharmacological applications. Impurities in lectin derived from natural sources and the generation of inactive proteins by recombinant technology are major obstacles for the use of lectins. Expressing recombinant lectin with a tandem repeat structure can potentially overcome these problems, but few studies have systematically examined this possibility. This was investigated in the present study using three distinct forms of recombinant mannose-binding lectin from (BPL2)-i.e., the monomer (rD1BPL2), as well as the dimer (rD2BPL2), and tetramer (rD4...
Robust remapping of equine SNP array coordinates to EquCab3.
Animal genetics    November 13, 2018   Volume 50, Issue 1 114-115 doi: 10.1111/age.12745
Beeson SK, Schaefer RJ, Mason VC, McCue ME.No abstract available
Distribution, Diversity, and Evolution of Endogenous Retroviruses in Perissodactyl Genomes.
Journal of virology    November 12, 2018   Volume 92, Issue 23 e00927-18 doi: 10.1128/JVI.00927-18
Zhu H, Gifford RJ, Murcia PR.The evolution of mammalian genomes has been shaped by interactions with endogenous retroviruses (ERVs). In this study, we investigated the distribution and diversity of ERVs in the mammalian order , with a view to understanding their impact on the evolution of modern equids (family ). We characterize the major ERV lineages in the horse genome in terms of their genomic distribution, ancestral genome organization, and time of activity. Our results show that subsequent to their ancestral divergence from rhinoceroses and tapirs, equids acquired four novel ERV lineages. We show that two of these ER...
Cell Identity, Proliferation, and Cytogenetic Assessment of Equine Umbilical Cord Blood Mesenchymal Stromal Cells.
Stem cells and development    November 10, 2018   Volume 27, Issue 24 1729-1738 doi: 10.1089/scd.2018.0105
Alizadeh AH, Briah R, Villagomez DAF, King WA, Koch TG.The aim of the present work was to determine proliferation capacity, immunophenotype and genome integrity of mesenchymal stromal cells (MSCs) from horse umbilical cord blood (UCB) at passage stage 5 and 10. Passage 4 cryopreserved UCB-MSCs from six unrelated donors were evaluated. Immunophenotypic analysis of UCB-MSC revealed a cell identity consistent with equine MSC phenotype by high expression of CD90, CD44, CD29, and very low expression of CD4, CD11a/18, CD73, and MHC class I and II antigens. Proliferative differences were noted among the UCB-MSC cultures. UCB-MSCs karyotype characteristic...
Denaturing Gradient Gel Electrophoresis Analysis of Bacteria in Italian Ticks and First Detection of Streptococcus equi in Rhipicephalus bursa from the Lazio Region.
Vector borne and zoonotic diseases (Larchmont, N.Y.)    November 10, 2018   Volume 19, Issue 5 328-332 doi: 10.1089/vbz.2018.2364
Cappelli A, Capone A, Valzano M, Bozic J, Preziuso S, Mensah P, Varotto Boccazzi I, Rinaldi L, Favia G, Ricci I.Tick-borne diseases are an increasing problem for the community. Ticks harbor a complex microbial population acquired while feeding on a variety of animals. Profiling the bacterial population by 16S rDNA amplification and denaturing gradient gel electrophoresis enables detection of the broad spectrum of bacteria that settles in the ticks. This study identified known and unknown tick-infecting bacteria in samples from Italy. Seven adult ticks from different hosts and origins were analyzed: two ticks from dogs (Lombardia), two ticks from bovines (Lazio), and three ticks from humans (Marche). ...
SAGD: a comprehensive sex-associated gene database from transcriptomes.
Nucleic acids research    November 1, 2018   Volume 47, Issue D1 D835-D840 doi: 10.1093/nar/gky1040
Shi MW, Zhang NA, Shi CP, Liu CJ, Luo ZH, Wang DY, Guo AY, Chen ZX.Many animal species present sex differences. Sex-associated genes (SAGs), which have female-biased or male-biased expression, have major influences on the remarkable sex differences in important traits such as growth, reproduction, disease resistance and behaviors. However, the SAGs resulting in the vast majority of phenotypic sex differences are still unknown. To provide a useful resource for the functional study of SAGs, we manually curated public RNA-seq datasets with paired female and male biological replicates from the same condition and systematically re-analyzed the datasets using stand...
Corrigendum to ‘DNA methylation patterns of the S100A14, POU2F3 and SFN genes in equine sarcoid tissues’ Research in Veterinary Science 119 (2018) 302-307.
Research in veterinary science    October 30, 2018   Volume 121 116 doi: 10.1016/j.rvsc.2018.10.012
Semik-Gurgul E, Ząbek T, Fornal A, Wnuk M, Pawlina-Tyszko K, Gurgul A, Klukowska-Rötzler J, Koch C, Mählmann K, Bugno-Poniewierska M.No abstract available
Sequence analysis and expression profiling of the equine ACTN3 gene during exercise in Arabian horses.
Gene    October 30, 2018   Volume 685 149-155 doi: 10.1016/j.gene.2018.10.079
Ropka-Molik K, Stefaniuk-Szmukier M, Musiał AD, Piórkowska K, Szmatoła T.The ACTN3 gene codes for α-actinin-3, a protein localized in the Z-line in the skeletal muscle. Actinin-3 is critical in anchoring the myofibrillar actin filaments and plays a key role in muscle contraction. ACTN3 (α-actinin-3) cross-links glycogen phosphorylase (GP), which is the key enzyme catalysing glycogen metabolism. The aim of present study was to establish the expression level of the ACTN3 gene (for both isoforms separately and together in the gene expression analysis) in the gluteus medius muscle in order to verify if the α-actinin-3 gene can be related to training intensity in Ara...
Concern Regarding the Publication by Posbergh et al. “A Nonsynonymous Change in Adhesion G Protein-Coupled Receptor L3 Associated With Risk for Equine Degenerative Myeloencephalopathy in the Caspian Horse,” J Equine Vet Sci 2018;70:96-100.
Journal of equine veterinary science    October 29, 2018   Volume 72 124 doi: 10.1016/j.jevs.2018.10.021
Leeb T.No abstract available
Equine Methicillin-Resistant Sequence Type 398 Staphylococcus aureus (MRSA) Harbor Mobile Genetic Elements Promoting Host Adaptation.
Frontiers in microbiology    October 24, 2018   Volume 9 2516 doi: 10.3389/fmicb.2018.02516
Walther B, Klein KS, Barton AK, Semmler T, Huber C, Merle R, Tedin K, Mitrach F, Lübke-Becker A, Gehlen H.Continuing introduction of multi-drug resistant, zoonotic pathogens such as methicillin-resistant Staphylococcus aureus (MRSA) in horse clinics challenges the biosafety of employees and animal patients. This study was aimed to determine the occurrence of mobile genetic elements facilitating survival in the early stages of invasive infection in different host species, including humans and horses, in MRSA carried by equine patients admitted to a large horse clinic. A total of 341 equine patients were investigated for carriage of MRSA by hygiene screening directly at hospital admission. MRSA were...
SNP-based heritability and genetic architecture of tarsal osteochondrosis in North American Standardbred horses.
Animal genetics    October 24, 2018   Volume 50, Issue 1 78-81 doi: 10.1111/age.12738
McCoy AM, Norton EM, Kemper AM, Beeson SK, Mickelson JR, McCue ME.Osteochondrosis is a common developmental orthopedic disease characterized by a failure of endochondral ossification. Standardbred horses are recognized as being predisposed to tarsal osteochondrosis. Prior heritability estimates for tarsal osteochondrosis in European Standardbreds and related trotting breeds have been based on pedigree data and range from 17-29%. Here, we report on genetic architecture and heritability based on high-density genotyping data in a cohort of North American Standardbreds (n = 479) stringently phenotyped for tarsal osteochondrosis. Whole-genome array genotyping d...
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