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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Science-in-brief: Genomic and transcriptomic approaches to the investigation of equine diseases.
Equine veterinary journal    February 9, 2022   Volume 54, Issue 2 444-448 doi: 10.1111/evj.13549
Finno CJ.No abstract available
Science-in-brief: Proteomics and metabolomics in equine veterinary science.
Equine veterinary journal    February 9, 2022   Volume 54, Issue 2 449-452 doi: 10.1111/evj.13550
Anderson JR.No abstract available
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus.
Journal of equine veterinary science    February 9, 2022   Volume 112 103898 doi: 10.1016/j.jevs.2022.103898
Henker LC, Lorenzett MP, Piva MM, Wronski JG, de Andrade DGA, Borges AS, Driemeier D, Oliveira-Filho JP, Pavarini SP.Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible sepa...
One Hundred Years of Coat Colour Influences on Genetic Diversity in the Process of Development of a Composite Horse Breed.
Veterinary sciences    February 6, 2022   Volume 9, Issue 2 68 doi: 10.3390/vetsci9020068
Marín Navas C, Delgado Bermejo JV, McLean AK, León Jurado JM, Torres ARBYR, Navas González FJ.Genetic diversity and demographic parameters were computed to evaluate the historic effects of coat colour segregation in the process of configuration of the Hispano-Arabian horse (Há). Pedigree records from 207,100 individuals born between 1884 and 2019 were used. Although coat colour is not a determinant for the admission of Hispano-Arabian individuals as apt for breeding, it may provide a representative visual insight into the gene contribution of Spanish Purebred horses (PRE), given many of the dilution genes described in Há are not present in the Arabian Purebred breed (PRá). The lack ...
On the Description of Equine Somatic Growth Using Nonlinear Functions.
Journal of equine veterinary science    February 5, 2022   Volume 111 103893 doi: 10.1016/j.jevs.2022.103893
Darmani Kuhi H, Hossein-Zadeh NG, France J, López S.A better knowledge of the growth of horses can facilitate sounder intervention in their health control, nutrition and management. This study compared five growth functions with either diminishing returns (monomolecular and Michaelis-Menten) or asymptotic sigmoidal (Gompertz, Richards and Lopez) behavior for describing the growth curves of horses, based on the relationship between a given somatic growth trait (body weight, withers height, or body weight to withers height ratio) and age. Data used in this study were those available in the literature for quarter horse males and thoroughbred foals...
First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.
Equine veterinary journal    February 1, 2022   Volume 54, Issue 6 1086-1093 doi: 10.1111/evj.13547
Grillos AS, Roach JM, de Mestre AM, Foote AK, Kinglsey NB, Mienaltowski MJ, Bellone RR.Warmblood Fragile Foal Syndrome Type 1 (WFFS) is an autosomal recessive disorder reported previously only in warmbloods and thought to be caused by a variant in the gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1, c.2032G>A, p.Gly678Arg). Given the presentation of this Thoroughbred case, we hypothesised that a similar genetic mechanism caused this phenotype. Objective: To describe the pathological and genetic findings on a foal presenting to a veterinary practice in the UK with skin lesions similar to other Ehlers-Danlos Syndromes, including those documented for warmbloods with W...
Y-Chromosomal Insights into Breeding History and Sire Line Genealogies of Arabian Horses.
Genes    January 26, 2022   Volume 13, Issue 2 229 doi: 10.3390/genes13020229
Remer V, Bozlak E, Felkel S, Radovic L, Rigler D, Grilz-Seger G, Stefaniuk-Szmukier M, Bugno-Poniewierska M, Brooks S, Miller DC, Antczak DF....The Y chromosome is a valuable genetic marker for studying the origin and influence of paternal lineages in populations. In this study, we conducted Y-chromosomal lineage-tracing in Arabian horses. First, we resolved a Y haplotype phylogeny based on the next generation sequencing data of 157 males from several breeds. Y-chromosomal haplotypes specific for Arabian horses were inferred by genotyping a collection of 145 males representing most Arabian sire lines that are active around the globe. These lines formed three discrete haplogroups, and the same haplogroups were detected in Arabian popul...
Identification of processed pseudogenes in the genome of Thoroughbred horses: Possibility of gene-doping detection considering the presence of pseudogenes.
Animal genetics    January 25, 2022   Volume 53, Issue 2 183-192 doi: 10.1111/age.13174
Tozaki T, Ohnuma A, Kikuchi M, Ishige T, Kakoi H, Hirota KI, Kusano K, Nagata SI.Processed pseudogenes, also known as retrocopy genes, are copies of messenger RNAs that have been reverse transcribed into DNA and inserted into the genome. In this study, we identified 62 processed pseudogene candidates as intron-less genes from whole-genome sequencing (WGS) data of Thoroughbred horses using delly structural variation software. The 62 processed pseudogene candidates were confirmed by PCR amplification of intron-less products. A total of 11 processed pseudogenes were confirmed in the genome of all 23 analysed horses, whereas three processed pseudogenes with structures of ATP11...
Lethal foal syndrome affects thoroughbreds too.
The Veterinary record    January 22, 2022   Volume 190, Issue 2 62-63 doi: 10.1002/vetr.1402
Mills G.For the first time researchers have confirmed a case of fragile foal syndrome in a non-warmblood horse. Georgina Mills reports.
Performance of Swedish Warmblood fragile foal syndrome carriers and breeding prospects.
Genetics, selection, evolution : GSE    January 21, 2022   Volume 54, Issue 1 4 doi: 10.1186/s12711-021-00693-4
Ablondi M, Johnsson M, Eriksson S, Sabbioni A, Viklund ÅG, Mikko S.Warmblood fragile foal syndrome (WFFS) is a monogenetic defect caused by a recessive lethal missense point mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 gene (PLOD1, c.2032G>A). The majority of homozygous WFFS horses are aborted during gestation. Clinical signs of affected horses include fragile skin, skin and mucosa lacerations, hyperextension of the articulations, and hematomas. In spite of its harmful effect, a relatively high frequency of WFFS carriers has been found in Warmblood horses, suggesting a heterozygote advantage. Thus, in this study our aims were to: (1) est...
Genome-Wide Association Analyses of Osteochondrosis in Belgian Warmbloods Reveal Candidate Genes Associated With Chondrocyte Development.
Journal of equine veterinary science    January 21, 2022   Volume 111 103870 doi: 10.1016/j.jevs.2022.103870
Drabbe A, Janssens S, Blott S, Ducro BJ, Fontanel M, Francois L, Schurink A, Stinckens A, Lindgren G, Van Mol B, Pille F, Buys N, Velie BD.Osteochondrosis (OC) is an important skeletal disease causing profound welfare concerns in horses. Although numerous studies have explored the genetics underlying OC in various breeds, the Belgian Warmblood (BW) remains unstudied despite having a concerning prevalence of 32.0%. As a result, this study aimed to conduct genome-wide association (GWA) analyses to identify candidate variants associated with OC in BWs. To achieve this, blood samples and radiographs were collected from 407 Belgian Warmbloods registered to one of two BW studbooks (Belgisch Warmbloedpaard and Zangersheide), and genotyp...
National genomic evaluation of Korean thoroughbreds through indirect racing phenotype.
Animal bioscience    January 21, 2022   Volume 35, Issue 5 659-669 doi: 10.5713/ab.21.0409
Lee J, Shin D, Kim H.Thoroughbred horses have been bred exclusively for racing in England for a long time. Additionally, because horse racing is a global sport, a healthy leisure activity for ordinary citizens, and a high-value business, systematic racehorse breeding at the population level is a requirement for continuous industrial development. Therefore, we established genomic evaluation system (using prize money as horse racing traits) to produce spirited, agile, and strong racing horse population. Methods: We used phenotypic data from 25,061 Thoroughbred horses (all registered individuals in Korea) that compet...
Direct sequence confirmation of qPCR products for gene doping assay validation in horses.
Drug testing and analysis    January 20, 2022   Volume 14, Issue 6 1017-1025 doi: 10.1002/dta.3219
Maniego J, Pesko B, Hincks P, Taylor P, Stewart G, Proudman C, Scarth J, Ryder E.The misuse of gene therapy by the introduction of transgenes via plasmid or viral vectors as a doping agent is an increasing concern in human and animal sports, not only in consideration to fair competition but also in potential detrimental effects to welfare. Doping events can be detected by polymerase chain reaction (PCR) amplification of a transgene-specific region of DNA. Quantitative real-time PCR (qPCR) is particularly suited to confirmatory investigations where precise limits of detection can be calculated. To fully validate a qPCR experiment, it is highly desirable to confirm the ident...
Past, present and future of ICSI in livestock species.
Animal reproduction science    January 19, 2022   Volume 246 106925 doi: 10.1016/j.anireprosci.2022.106925
Briski O, Salamone DF.During the past 2 decades, intracytoplasmic sperm injection (ICSI) has become a routine technique for clinical applications in humans. The widespread use among domestic species, however, has been limited to horses. In horses, ICSI is used to reproduce elite individuals and, as well as in humans, to mitigate or even circumvent reproductive barriers. Failures in superovulation and conventional in vitro fertilization (IVF) have been the main reason for the use of this technology in horses. In pigs, ICSI has been successfully used to produce transgenic animals. A series of factors have resulted in...
Osteochondrosis and other lesions in all intervertebral, articular process and rib joints from occiput to sacrum in pigs with poor back conformation, and relationship to juvenile kyphosis.
BMC veterinary research    January 18, 2022   Volume 18, Issue 1 44 doi: 10.1186/s12917-021-03091-6
Olstad K, Aasmundstad T, Kongsro J, Grindflek E.Computed tomography (CT) is used to evaluate body composition and limb osteochondrosis in selection of breeding boars. Pigs also develop heritably predisposed abnormal curvature of the spine including juvenile kyphosis. It has been suggested that osteochondrosis-like changes cause vertebral wedging and kyphosis, both of which are identifiable by CT. The aim of the current study was to examine the spine from occiput to sacrum to map changes and evaluate relationships, especially whether osteochondrosis caused juvenile kyphosis, in which case CT could be used in selection against it. Whole-body ...
MMV020275 and MMV020490, promising compounds from malaria box for the treatment of equine piroplasmosis.
Ticks and tick-borne diseases    January 15, 2022   Volume 13, Issue 2 101904 doi: 10.1016/j.ttbdis.2022.101904
Rizk MA, El-Sayed SAE, Eltaysh R, Igarashi I.Equine piroplasmosis is a tick-transmitted disease that is considered one of the most serious infectious diseases affecting equines. Searching for novel antipiroplasm drugs remains indispensable due to the emergence and spreading of resistant piroplasm parasites against the limited currently used drugs, diminazene aceturate and imidocarb dipropionate. Therefore, novel drugs with specified targets need to be identified and exploited. The inhibitory effects of Medicines for Malaria Venture (MMV) Malaria Box compounds with potent in vitro anti-equine piroplasmosis activity were evaluated against ...
The genetic identity of the earliest human-made hybrid animals, the kungas of Syro-Mesopotamia.
Science advances    January 14, 2022   Volume 8, Issue 2 eabm0218 doi: 10.1126/sciadv.abm0218
Bennett EA, Weber J, Bendhafer W, Champlot S, Peters J, Schwartz GM, Grange T, Geigl EM.Before the introduction of domestic horses in Mesopotamia in the late third millennium BCE, contemporary cuneiform tablets and seals document intentional breeding of highly valued equids called kungas for use in diplomacy, ceremony, and warfare. Their precise zoological classification, however, has never been conclusively determined. Morphometric analysis of equids uncovered in rich Early Bronze Age burials at Umm el-Marra, Syria, placed them beyond the ranges reported for other known equid species. We sequenced the genomes of one of these ~4500-year-old equids, together with an ~11,000-year-o...
Proteomic analysis of spermatozoa reveals caseins play a pivotal role in preventing short-term periods of subfertility in stallions†.
Biology of reproduction    January 14, 2022   Volume 106, Issue 4 741-755 doi: 10.1093/biolre/ioab225
Griffin RA, Swegen A, Baker MA, Ogle RA, Smith N, Aitken RJ, Skerrett-Byrne DA, Fair S, Gibb Z.Stallions experience transient fluctuations in fertility throughout the breeding season. Considering pregnancy diagnoses cannot be ascertained until ~14 days postbreeding, the timely detection of decreases in stallion fertility would enhance industry economic and welfare outcomes. Therefore, this study aimed to identify the proteomic signatures reflective of short-term fertility fluctuations and to determine the biological mechanisms governing such differences. Using liquid chromatography-mass spectrometry (LC-MS/MS), we compared the proteomic profile of semen samples collected from commercia...
Genetic and genomic characterization followed by single-step genomic evaluation of withers height in German Warmblood horses.
Journal of applied genetics    January 14, 2022   Volume 63, Issue 2 369-378 doi: 10.1007/s13353-021-00681-w
Vosgerau S, Krattenmacher N, Falker-Gieske C, Seidel A, Tetens J, Stock KF, Nolte W, Wobbe M, Blaj I, Reents R, Kühn C, von Depka Prondzinski M....Reliability of genomic predictions is influenced by the size and genetic composition of the reference population. For German Warmblood horses, compilation of a reference population has been enabled through the cooperation of five German breeding associations. In this study, preliminary data from this joint reference population were used to genetically and genomically characterize withers height and to apply single-step methodology for estimating genomic breeding values for withers height. Using data on 2113 mares and their genomic information considering about 62,000 single nucleotide polymorp...
Platelet Lysate for Mesenchymal Stromal Cell Culture in the Canine and Equine Species: Analogous but Not the Same.
Animals : an open access journal from MDPI    January 13, 2022   Volume 12, Issue 2 189 doi: 10.3390/ani12020189
Hagen A, Holland H, Brandt VP, Doll CU, Häußler TC, Melzer M, Moellerberndt J, Lehmann H, Burk J.Platelet lysate (PL) is an attractive platelet-based therapeutic tool and has shown promise as xeno-free replacement for fetal bovine serum (FBS) in human and equine mesenchymal stromal cell (MSC) culture. Here, we established a scalable buffy-coat-based protocol for canine PL (cPL) production (n = 12). The cPL was tested in canine adipose MSC (n = 5) culture compared to FBS. For further comparison, equine adipose MSC (n = 5) were cultured with analogous equine PL (ePL) or FBS. During canine blood processing, platelet and transforming growth factor-β1 concentrations increased ( < 0.05 and < ...
Catalog of the horse-flies (Diptera: Tabanidae) of Chile.
Zootaxa    January 13, 2022   Volume 5091, Issue 2 201-257 doi: 10.11646/zootaxa.5091.2.1
Gonzlez CR, Elgueta M, Krolow TK, Henriques AL.A catalog of the Tabanidae from Chile is provided. All valid names and synonyms for the 116 species and 25 genera known for the country including information about name, author, year of publication, page number, type species, type locality and references are listed. The species Dasybasis albohirta (Walker) is cited for the first time for Chile. The type locality of Dasybasis nigrifrons (Philippi) is corrected to Chile (Todos Los Santos Lake). The dates of the description of Tabanus nigrifrons Philippi (now Dasybasis), and Pangonia australis Philippi (now Pseudoscione) are corrected from their ...
Differences in the Accessory Genomes and Methylomes of Strains of Streptococcus equi subsp. equi and of Streptococcus equi subsp. zooepidemicus Obtained from the Respiratory Tract of Horses from Texas.
Microbiology spectrum    January 12, 2022   Volume 10, Issue 1 e0076421 doi: 10.1128/spectrum.00764-21
Morris ERA, Wu J, Bordin AI, Lawhon SD, Cohen ND.Streptococcus equi subsp. (SEE) is a host-restricted equine pathogen considered to have evolved from Streptococcus equi subsp. (SEZ). SEZ is promiscuous in host range and is commonly recovered from horses as a commensal. Comparison of a single strain each of SEE and SEZ using whole-genome sequencing, supplemented by PCR of selected genes in additional SEE and SEZ strains, was used to characterize the evolution of SEE. But the known genetic variability of SEZ warrants comparison of the whole genomes of multiple SEE and SEZ strains. To fill this knowledge gap, we utilized whole-genome sequenci...
Genetic diversity and selection in Puerto Rican horses.
Scientific reports    January 11, 2022   Volume 12, Issue 1 515 doi: 10.1038/s41598-021-04537-5
Wolfsberger WW, Ayala NM, Castro-Marquez SO, Irizarry-Negron VM, Potapchuk A, Shchubelka K, Potish L, Majeske AJ, Oliver LF, Lameiro AD....Since the first Spanish settlers brought horses to America centuries ago, several local varieties and breeds have been established in the New World. These were generally a consequence of the admixture of the different breeds arriving from Europe. In some instances, local horses have been selectively bred for specific traits, such as appearance, endurance, strength, and gait. We looked at the genetics of two breeds, the Puerto Rican Non-Purebred (PRNPB) (also known as the "Criollo") horses and the Puerto Rican Paso Fino (PRPF), from the Caribbean Island of Puerto Rico. While it is reasonable ...
DNA methylation aging and transcriptomic studies in horses.
Nature communications    January 10, 2022   Volume 13, Issue 1 40 doi: 10.1038/s41467-021-27754-y
Horvath S, Haghani A, Peng S, Hales EN, Zoller JA, Raj K, Larison B, Robeck TR, Petersen JL, Bellone RR, Finno CJ.Cytosine methylation patterns have not yet been thoroughly studied in horses. Here, we profile n = 333 samples from 42 horse tissue types at loci that are highly conserved between mammalian species using a custom array (HorvathMammalMethylChip40). Using the blood and liver tissues from horses, we develop five epigenetic aging clocks: a multi-tissue clock, a blood clock, a liver clock and two dual-species clocks that apply to both horses and humans. In addition, using blood methylation data from three additional equid species (plains zebra, Grevy's zebras and Somali asses), we develop anoth...
Training associated alterations in equine respiratory immunity using a multiomics comparative approach.
Scientific reports    January 10, 2022   Volume 12, Issue 1 427 doi: 10.1038/s41598-021-04137-3
Karagianni AE, Kurian D, Cillán-Garcia E, Eaton SL, Wishart TM, Pirie RS.Neutrophilic airway inflammation is highly prevalent in racehorses in training, with the term mild to moderate equine asthma (MMEA) being applied to the majority of such cases. Our proposed study is largely derived from the strong association between MMEA in racehorses and their entry into a race training program. The objectives of this study are to characterise the effect of training on the local pulmonary immune system by defining the gene and protein expression of tracheal wash (TW) derived samples from Thoroughbred racehorses prior to and following commencement of race training. Multiomics...
Biobank samples could help solve equine grass sickness.
The Veterinary record    January 8, 2022   Volume 190, Issue 1 7 doi: 10.1002/vetr.1329
No abstract available
Horse: a potential source of Cryptococcus neoformans and Cryptococcus gattii in Egypt.
BMC veterinary research    January 4, 2022   Volume 18, Issue 1 17 doi: 10.1186/s12917-021-03127-x
Mohammed R, Nader SM, Hamza DA, Sabry MA.Cryptococcosis is an opportunistic mycozoonosis of global significance in a wide variety of host species. In equines, cryptococcosis is uncommon, and sporadic cases have been reported with rhinitis, sinusitis, pneumonia, and meningitis. Cryptococcus spp. represents a potential risk for immunosuppressed and healthy persons. In Egypt, epidemiological data on cryptococcal infection in horses are limited. The current study was carried out to investigate the occurrence of Cryptococcus spp. in horses and its possible role in the epidemiology of such disease in Egypt. A total of 223 samples was colle...
Genetic Variability Trend of Lusitano Horse Breed Reared in Italy.
Animals : an open access journal from MDPI    January 1, 2022   Volume 12, Issue 1 doi: 10.3390/ani12010098
Cozzi MC, Valiati P, Longeri M, Ferreira C, Abreu Ferreira S.The Lusitano Horse (LH) originates from Portugal, but is reared worldwide. Since 1994, the University of Milan has routinely tested the LHs bred in Italy for parentage control. This study aims to assess the genetic variability of the LH reared in Italy using 16 microsatellites markers. Moreover, the genetic variability changes over the years in the total population (n.384) and in unrelated horses (n.47) were evaluated. Horses were grouped according to their date of birth (1975-1990, 1991-2000, 2001-2010, 2010-2019). Standard genetic diversity parameters, including observed (Ho) and expected (H...
Specific Biological Activity of Equine Chorionic Gonadotropin (eCG) Glycosylation Sites in Cells Expressing Equine Luteinizing Hormone/CG (eLH/CG) Receptor.
Development & reproduction    December 31, 2021   Volume 25, Issue 4 199-211 doi: 10.12717/DR.2021.25.4.199
Byambaragchaa M, Choi SH, Joo HE, Kim SG, Kim YJ, Park GE, Kang MH, Min KS.Equine chorionic gonadotropin (eCG), produced by the endometrial cups of the placenta after the first trimester, is a specific glycoprotein that displays dual luteinizing hormone (LH)-like and follicle-stimulating hormone (FSH)-like effects in non-equid species. However, in equidaes, eCG exhibits only LH-like activity. To identify the specific biological functions of glycosylated sites in eCG, we constructed the following site mutants of N- and O-linked glycosylation: eCGβ/αΔ56, substitution of α-subunit N-linked glycosylation site; eCGβ-D/α, deletion of the O-linked glycosylation sites ...
Developing a reproducible protocol for culturing functional confluent monolayers of differentiated equine oviduct epithelial cells†.
Biology of reproduction    December 29, 2021   Volume 106, Issue 4 710-729 doi: 10.1093/biolre/ioab243
Leemans B, Bromfield EG, Stout TAE, Vos M, Van Der Ham H, Van Beek R, Van Soom A, Gadella BM, Henning H.We describe the development of two methods for obtaining confluent monolayers of polarized, differentiated equine oviduct epithelial cells (EOEC) in Transwell inserts and microfluidic chips. EOECs from the ampulla were isolated post-mortem and seeded either (1) directly onto a microporous membrane as differentiated EOECs (direct seeding protocol) or (2) first cultured to a confluent de-differentiated monolayer in conventional wells, then trypsinized and seeded onto a microporous membrane (re-differentiation protocol). Maintenance or induction of EOEC differentiation in these systems was achiev...
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