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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.
Application of gene therapy in the treatment of superficial digital flexor tendon injury in horses.
Open veterinary journal    July 31, 2020   Volume 10, Issue 3 261-266 doi: 10.4314/ovj.v10i3.3
Aimaletdinov A, Mindubaeva G, Khalikova S, Kabwe E, Salmakova A, Alexandrova N, Rutland C, Rizvanov A, Zakirova E.Tendon injuries are one of the most common causes of orthopedic disorders in horses. Such injuries involve a long course of treatment and recovery. The most promising method of treating these injuries is the use of recombinant proteins and gene therapy. In this work, we evaluated the therapeutic efficacy of plasmid DNA (pDNA) containing two species-specific coding sequences, i.e. vascular endothelial growth factor 164 (VEGF164) and fibroblast growth factor 2 (FGF2), in the treatment of severe damage to the tendon of the superficial digital flexor. A pDNA construct was used to restore the damag...
Genetic Diversity and Population Structure of Arabian Horse Populations Using Microsatellite Markers.
Journal of equine veterinary science    July 31, 2020   Volume 93 103200 doi: 10.1016/j.jevs.2020.103200
Machmoum M, Boujenane I, Azelhak R, Badaoui B, Petit D, Piro M.Understanding the genetic diversity and the relationships among the show Arabian horse populations is a current issue for breeders and professionals. This study aimed to define the relationship among the Desert breed, the Straight Egyptian, and the Polish Arabian populations by considering the historical background of their origin and to verify their genetic diversity. All selected samples were related to Arabian show activities. One hundred forty four hair samples were collected from horses at stud farms having notoriety in the breeding of Arabians from different geographic regions. A set of ...
Spontaneously occurring melanoma in animals and their relevance to human melanoma.
The Journal of pathology    July 31, 2020   Volume 252, Issue 1 4-21 doi: 10.1002/path.5505
van der Weyden L, Brenn T, Patton EE, Wood GA, Adams DJ.In contrast to other cancer types, melanoma incidence has been increasing over the last 50 years, and while it still represents less than 5% of all cutaneous malignancies, melanoma accounts for the majority of skin cancer deaths, due to its propensity to metastasise. Whilst melanoma most commonly affects the skin, it can also arise in mucosal surfaces, the eye, and the brain. For new therapies to be developed, a better understanding of the genetic landscape, signalling pathways, and tumour-microenvironmental interactions is needed. This is where animal models are of critical importance. The ...
Equine Asthma: Current Understanding and Future Directions.
Frontiers in veterinary science    July 30, 2020   Volume 7 450 doi: 10.3389/fvets.2020.00450
Couetil L, Cardwell JM, Leguillette R, Mazan M, Richard E, Bienzle D, Bullone M, Gerber V, Ivester K, Lavoie JP, Martin J, Moran G, Niedźwiedź A....The 2019 Havemeyer Workshop brought together researchers and clinicians to discuss the latest information on Equine Asthma and provide future research directions. Current clinical and molecular asthma phenotypes and endotypes in humans were discussed and compared to asthma phenotypes in horses. The role of infectious and non-infectious causes of equine asthma, genetic factors and proposed disease pathophysiology were reviewed. Diagnostic limitations were evident by the limited number of tests and biomarkers available to field practitioners. The participants emphasized the need for more accessi...
Phylogenetic analysis and geographical distribution of Theileria equi and Babesia caballi sequences from horses residing in Spain.
Ticks and tick-borne diseases    July 29, 2020   Volume 11, Issue 6 101521 doi: 10.1016/j.ttbdis.2020.101521
Camino E, Cruz-Lopez F, de Juan L, Dominguez L, Shiels B, Coultous RM.The intraerythrocytic protozoans Theileria equi and Babesia caballi are the causative agents of equine piroplasmosis (EP), one of the most important equine tick-borne diseases due to its significant impact on global international horse trade. Although EP is known to be endemic in Spain, previous phylogenetic studies have only been conducted for limited geographical regions. Therefore, the objective of this study was to evaluate the genetic diversity and distribution of these parasite species nationwide. This was performed by amplification of the 18S small subunit (SSU) rRNA gene from 100 EP ...
Kisspeptin has an independent and direct effect on the pituitary gland in the mare.
Theriogenology    July 29, 2020   Volume 157 199-209 doi: 10.1016/j.theriogenology.2020.07.031
Magee C, Bruemmer JE, Kirkley KS, Sylvester LA, Runyan B, Nett TM, Squires EL, Clay CM.To more clearly understand the equine gonadotrope response to kisspeptin and gonadotropin releasing hormone (GnRH), peripheral LH and FSH were quantified in diestrous mares after treatment with either equine kisspeptide (eKp-10, 0.5 mg iv), GnRH (25 μg iv), or a combination thereof every 4 h for 3 days. The following observations were made: 1) a diminished LH and FSH response to eKp-10 and GnRH was observed by Day 3, but was not different by treatment, 2) a decrease in basal LH concentration was observed from Day 1 to Day 3 for the eKp-10, but not the GnRH treated mares, 3) there was no ch...
Author Correction: Detection of Neorickettsia risticii, the agent of Potomac horse fever, in horses from Rio de Janeiro, Brazil.
Scientific reports    July 29, 2020   Volume 10, Issue 1 13001 doi: 10.1038/s41598-020-69584-w
Paulino PG, Almosny N, Oliveira R, Viscardi V, Müller A, Guimarães A, Baldani C, da Silva C, Peckle M, Massard C, Santos H.An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Progression of aural plaques to squamous cell carcinoma in a horse.
Veterinary dermatology    July 28, 2020   Volume 31, Issue 5 397-400 doi: 10.1111/vde.12870
Peters-Kennedy J, Lange CE, Ortved K.Aural plaques are associated with and thought to be caused by one or more Equus caballus papillomaviruses (EcPV). Aural plaques have not previously been reported to be associated with squamous cell carcinoma (SCC). Objective: To describe a horse with aural plaques and squamous cell carcinoma (SCC) on the right pinna. Methods: A 28-year-old thoroughbred gelding presented for multiple plaques and a mass on the right pinna. Methods: Pinnal resection, histopathological investigation, multiple conventional PCRs for papillomavirus DNA and Sanger sequencing were performed. Results: Multiple, raised, ...
The use of the geometric morphometric method to illustrate shape difference in the skulls of different-aged horses.
Veterinary research communications    July 23, 2020   Volume 44, Issue 3-4 137-145 doi: 10.1007/s11259-020-09779-8
Liuti T, Dixon PM.The geometric morphometrics method (GMM) is a technique to study scale and shape relationships of structures using Cartesian geometric coordinates rather than linear, areal (of area), or volumetric variables. GMM has been of great value in many biological studies, but does not appear to have been used to examine equine skulls.In this exploratory study, twenty-nine normal equine heads of three different age groups:  16 years old (N = 10) were examined.Computed tomography (CT) bone window DICOM images were reconstructed into isosurfaces (3-dimensional contoured surfaces), onto which landm...
Field assessment of horse-associated genetic markers HoF597 and mtCytb for detecting the source of contamination in surface waters.
Canadian journal of microbiology    July 21, 2020   Volume 66, Issue 11 623-630 doi: 10.1139/cjm-2019-0499
Gray J, Masters N, Wiegand A, Katouli M.We investigated the specificity and sensitivity of two horse-associated markers, HoF597 and Horse mtCytb, and 12 mitochondrial and bacterial markers of six animal species (human, cow, pig, bird, dog, chicken) in the faecal samples of 50 individual horses. Both horse markers were detected in 48 (96%) faecal samples. Cross-reactivity with dog (BacCan545) and pig (P23-2) occurred in 88% and 72% of horse faecal samples, respectively. Several other bacterial and mitochondrial markers of non-target hosts were also detected; however, their specificities were >80%. Analyses of samples from surface wat...
Publisher Correction: Differences in the intrinsic chondrogenic potential of equine umbilical cord matrix and cord blood mesenchymal stromal/stem cells for cartilage regeneration.
Scientific reports    July 21, 2020   Volume 10, Issue 1 12075 doi: 10.1038/s41598-020-69170-0
Rakic R, Bourdon B, Demoor M, Maddens S, Saulnier N, Galéra P.An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Sarcocystis gigantea infection associated with granulomatous eosinophilic myositis in a horse. Veronesi F, Di Palma S, Gabrielli S, Morganti G, Milardi GL, Middleton B, Lepri E.The only species currently known to inhabit the fibers of skeletal and cardiac muscles in horses are , and . We describe herein the invasion of myofibers in a horse by , a sheep-specific species with low virulence in the original host. A hunter gelding was referred to a veterinary surgeon in Newmarket (UK). The anamnestic data reported that the horse had an initial history of swelling of the right forelimb with fluid on the front of the carpus and edema spreading up the forearm. Subsequently, 2 firm lumps were found on the left pectoral muscle adjacent to the axilla of the left forelimb. Hist...
Historical Changes and Description of the Current Hungarian Hucul Horse Population.
Animals : an open access journal from MDPI    July 21, 2020   Volume 10, Issue 7 1242 doi: 10.3390/ani10071242
Posta J, Somogyvári E, Mihók S.Gene conservation and management of small populations requires proper knowledge of the background and history of the breed. The aim of the study was the evaluation of population structure and changes of the Hungarian Hucul horse population. Population changes were described for the actual breeding stock as well as for groups of 10-year epochs reflecting major periods of change in the breed. Pedigree data of the registered population were analyzed using Endog and GRain software. The average value of equivalent complete generations was above nine for the actual breeding population. The longest g...
A retrospective study on semen quality parameters from four different Dutch horse breeds with different levels of inbreeding.
Theriogenology    July 21, 2020   Volume 157 18-23 doi: 10.1016/j.theriogenology.2020.07.017
Dini P, Bartels T, Revah I, Claes AN, Stout TAE, Daels P.A high degree of inbreeding has been reported to negatively impact semen quality in Friesian horses and Shetland ponies. Both breeds are characterized by a closed studbook, small population size, and high incidence of inbreeding. The Dutch Warmblood studbook (KWPN: Koninklijk Warmblood Paardenstamboek Nederland) is a much larger studbook with two distinct populations: the KWPN-Riding horses, managed as an 'open' studbook, and the KWPN-Harness horses, representing a much smaller subpopulation within the KWPN breed and managed as an 'almost closed' studbook. It was recently reported that the deg...
Exome analysis and functional classification of identified variants in racing Quarter Horses.
Animal genetics    July 21, 2020   Volume 51, Issue 5 716-721 doi: 10.1111/age.12976
Curi RA, Pereira GL, Alvarez MVN, Baldassini WA, Machado Neto OR, Chardulo LAL.The main objectives of this study were to identify and functionally classify SNPs and indels by exome sequencing of animals of the racing line of Quarter Horses. Based on the individual genomic estimated breeding values (GEBVs) for maximum speed index (SImax) obtained for 349 animals, two groups of 20 extreme animals were formed. Of these individuals, 20 animals with high GEBVs for SImax and 19 with low GEBVs for SImax had their exons and 5' and 3' UTRs sequenced. Considering SNPs and indels, 105 182 variants were identified in the expressed regions of the Quarter Horse genome. Of these, 72 ...
Impact of white-spotting alleles, including W20, on phenotype in the American Paint Horse.
Animal genetics    July 20, 2020   Volume 51, Issue 5 707-715 doi: 10.1111/age.12960
Brooks SA, Palermo KM, Kahn A, Hein J.The American Paint Horse Association (APHA) records pedigree and performance information for their breed, a stock-type horse valued as a working farm or ranch horse and as a pleasure horse. As the name implies, the breed is also valued for its attractive white-spotting patterns on the coat. The APHA utilizes visual inspections of photographs to determine if coat spotting exceeds threshold anatomical landmarks considered characteristic of desirable patterns. Horses with sufficient white patterning enter the 'Regular' registry, rather than the 'Solid Paint-Bred' division, providing a threshold m...
Comparative population genomic analysis uncovers novel genomic footprints and genes associated with small body size in Chinese pony.
BMC genomics    July 20, 2020   Volume 21, Issue 1 496 doi: 10.1186/s12864-020-06887-2
Asadollahpour Nanaei H, Esmailizadeh A, Ayatollahi Mehrgardi A, Han J, Wu DD, Li Y, Zhang YP.Body size is considered as one of the most fundamental properties of an organism. Due to intensive breeding and artificial selection throughout the domestication history, horses exhibit striking variations for heights at withers and body sizes. Debao pony (DBP), a famous Chinese horse, is known for its small body size and lives in Guangxi mountains of southern China. In this study, we employed comparative population genomics to study the genetic basis underlying the small body size of DBP breed based on the whole genome sequencing data. To detect genomic signatures of positive selection, we ap...
Dynamics of the Inbreeding Coefficient and Homozygosity in Thoroughbred Horses in Russia.
Animals : an open access journal from MDPI    July 17, 2020   Volume 10, Issue 7 doi: 10.3390/ani10071217
Kalashnikov V, Khrabrova L, Blohina N, Zaitcev A, Kalashnikova T.The Thoroughbred (TB) horse has hugely impacted the development of horse breeding around the world. This breed has unique genetic qualities due to having had a closed studbook for approximately 300 years. In Russia, TBs have been bred since the second half of the 18th century. Here, we analyzed the genetic diversity and the inbreeding level in TB horses (n = 9680) for the period from 1990 to 2018 using polymorphisms of 17 microsatellite loci. We found that the genetic structure of the TB breed in Russia is represented by 100 alleles of panel STR (short tandem repeat) loci and has been stable f...
Genetics of Immune Disease in the Horse.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 273-288 doi: 10.1016/j.cveq.2020.03.007
Tallmadge RL, Antczak DF, Felippe MJB.Host defenses against infection by viruses, bacteria, fungi, and parasites are critical to survival. It has been estimated that upwards of 7% of the coding genes of mammals function in immunity and inflammation. This high level of genomic investment in defense has resulted in an immune system characterized by extraordinary complexity and many levels of redundancy. Because so many genes are involved with immunity, there are many opportunities for mutations to arise that have negative effects. However, redundancy in the mammalian defense system and the adaptive nature of key immune mechanisms bu...
Genetics and Signaling Pathways of Laminitis.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 379-394 doi: 10.1016/j.cveq.2020.04.001
Galantino-Homer H, Brooks SA.Laminitis is a devastating disease with diverse etiologies and few, if any, effective treatments. Gene expression and hypothesis-generating genomic studies have provided a fresh look at the key molecular players at crucial timepoints in diverse experimental and naturally affected tissues. We summarize findings to date, and propose a unifying model of the laminitis disease process that includes several pathogenesis concepts shared with other diseases of epidermal and epithelial tissues. The value of these new pathways as potential therapeutic targets is exciting but will require careful future ...
Genetics of Equine Neurologic Disease.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 255-272 doi: 10.1016/j.cveq.2020.03.006
Edwards L, Finno CJ.Neurologic disease in horses can be particularly challenging to diagnose and treat. These diseases can result in economic losses, emotional distress to owners, and injury to the horse or handlers. To date, there are 5 neurologic diseases caused by known genetic mutations and several more are suspected to be heritable: lethal white foal syndrome, lavender foal syndrome, cerebellar abiotrophy, occipitoatlantoaxial malformation, and Friesian hydrocephalus. Genetic testing allows owners, breeders, and veterinarians to make informed decisions when selecting dams and sires for breeding or deciding t...
Genetics of Equine Muscle Disease.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 353-378 doi: 10.1016/j.cveq.2020.03.012
Valberg SJ.There are 5 single-gene mutations that are known to cause muscle disease in horses. These mutations alter the amino acid sequence of proteins involved in cell membrane electrical conduction, muscle energy metabolism, muscle contraction, and immunogenicity. The clinical signs depend on the pathway affected. The likelihood that an animal with a mutation will exhibit clinical signs depends on the mode of inheritance, environmental influences, and interactions with other genes. Selection of a genetic test for use in diagnostic or breeding decisions requires a knowledge of clinical signs, mode of i...
Genetics of Equine Ocular Disease.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 303-322 doi: 10.1016/j.cveq.2020.03.009
Bellone RR.Horses perform in a variety of disciplines that are visually demanding, and any disease impacting the eye has the potential to threaten vision and thus the utility of the horse. Advances in equine genetics have enabled the understanding of some inherited ocular disorders and ocular manifestations and are enabling cross-species comparisons. Genetic testing for multiple congenital ocular anomalies, congenital stationary night blindness, equine recurrent uveitis, and squamous cell carcinoma can identify horses with or at risk for disease and thus can assist in clinical management and breeding dec...
Genetics, Genomics, and Emergent Precision Medicine 12 Years After the Equine Reference Genome Was Published.
The Veterinary clinics of North America. Equine practice    July 14, 2020   Volume 36, Issue 2 173-181 doi: 10.1016/j.cveq.2020.04.002
MacLeod JN, Kalbfleisch TS.The first equine reference genome was completed in 2007 and published in 2009. This major accomplishment has enabled equine science to advance in ways that broadly parallel the transformative impact that genomics has had on many animal species including humans. A conceptual overview of reference genomes, genome annotation, and the major implications for equine science is presented. The relationship between genomic sequencing and the accelerating application of precision P4 medicine is discussed in the context of human and equine patients. Emergent technologies built on the foundation of genomi...
Prevalence of Ca Blood Type and Alloantibodies in a Population of Horses from Italy.
Animals : an open access journal from MDPI    July 13, 2020   Volume 10, Issue 7 doi: 10.3390/ani10071179
Proverbio D, Perego R, Baggiani L, Ferrucci F, Zucca E, Nobile F, Spada E.A knowledge of the blood groups and alloantibodies present is essential for the safe transfusion of blood products in horses. Pre-transfusion screening and blood typing minimizes the risk of incompatible RBC transfusions and prevents immunization of the recipient against incompatible RBC antigens. The frequencies of blood groups can vary among different breeds. Knowledge of a breed's blood group prevalence can be very useful for identifying the best blood donors during transfusion in clinical practice. The aims of this study were to estimate the prevalence of the Ca blood type in horses from I...
Molecular investigation of allelic variants of EqCXCL16 gene in equine arteritis virus infected stallions of selected horse breeds in Poland. Socha W, Larska M, Rola J.Susceptibility to long-term persistent infection with Equine Arteritis Virus (EAV) in stallions is related with EqCXCL16 gene alleles of the host. In our study EqCXCL16 gene alleles were determined for 63 EAV shedders and 126 non-shedders of various horse breeds. In total, 60 (31.7%) out of 189 tested stallions were identified as carriers of susceptible variants of EqCXCL16 by real time PCR and Sanger sequencing. The presence of susceptible genotype was related to horse breed with the highest percentage in Wielkopolska breed, Polish coldblood and Silesian breed horses. Strong correlation betwe...
Identification and Functional Annotation of Genes Related to Horses’ Performance: From GWAS to Post-GWAS.
Animals : an open access journal from MDPI    July 10, 2020   Volume 10, Issue 7 1173 doi: 10.3390/ani10071173
Littiere TO, Castro GHF, Rodriguez MDPR, Bonafé CM, Magalhães AFB, Faleiros RR, Vieira JIG, Santos CG, Verardo LL.Integration of genomic data with gene network analysis can be a relevant strategy for unraveling genetic mechanisms. It can be used to explore shared biological processes between genes, as well as highlighting transcription factors (TFs) related to phenotypes of interest. Unlike other species, gene-TF network analyses have not yet been well applied to horse traits. We aimed to (1) identify candidate genes associated with horse performance via systematic review, and (2) build biological processes and gene-TF networks from the identified genes aiming to highlight the most candidate genes for hor...
Metabogenomics reveals four candidate regions involved in the pathophysiology of Equine Metabolic Syndrome.
Molecular and cellular probes    July 10, 2020   Volume 53 101620 doi: 10.1016/j.mcp.2020.101620
Patterson Rosa L, Mallicote MF, Long MT, Brooks SA.An analogous condition to human metabolic syndrome, Equine Metabolic Syndrome (EMS) is defined by several clinical signs including obesity, hyperinsulinemia, and peripheral insulin dysregulation (ID). Affected horses may also exhibit hypertension, hyperlipemia and systemic inflammation. Measures of ID typically comprise the gold-standard for diagnosis in veterinary care. Yet, the dynamic nature of insulin homeostasis and complex procedures of typical assays make accurate quantification of ID and EMS challenging. This work aimed to investigate new strategies for identification of biochemical ma...
Equine pegiviruses cause persistent infection of bone marrow and are not associated with hepatitis.
PLoS pathogens    July 10, 2020   Volume 16, Issue 7 e1008677 doi: 10.1371/journal.ppat.1008677
Tomlinson JE, Wolfisberg R, Fahnøe U, Sharma H, Renshaw RW, Nielsen L, Nishiuchi E, Holm C, Dubovi E, Rosenberg BR, Tennant BC, Bukh J, Kapoor A....Pegiviruses frequently cause persistent infection (as defined by >6 months), but unlike most other Flaviviridae members, no apparent clinical disease. Human pegivirus (HPgV, previously GBV-C) is detectable in 1-4% of healthy individuals and another 5-13% are seropositive. Some evidence for infection of bone marrow and spleen exists. Equine pegivirus 1 (EPgV-1) is not linked to disease, whereas another pegivirus, Theiler's disease-associated virus (TDAV), was identified in an outbreak of acute serum hepatitis (Theiler's disease) in horses. Although no subsequent reports link TDAV to disease, an...
Molecular detection of Theileria species and Babesia caballi from horses in Nigeria.
Parasitology research    July 10, 2020   Volume 119, Issue 9 2955-2963 doi: 10.1007/s00436-020-06797-y
Mshelia PW, Kappmeyer L, Johnson WC, Kudi CA, Oluyinka OO, Balogun EO, Richard EE, Onoja E, Sears KP, Ueti MW.Equine piroplasmosis (EP) is an infectious, tick-borne disease caused by the hemoprotozoan parasites, Theileria equi, Babesia caballi, and a recently reported new species, T. haneyi. Infections by these apicomplexan parasites limit performance and cause economic losses for the horse industry. Equine piroplasmosis is widespread in the northern regions of Nigeria, where an increasing portion of the animal population is composed of horses. This disease has remained epidemiologically challenging, especially as the movement of horses increases across Nigeria. In this study, blood samples from 300 h...
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