Horse breeds represent the diverse genetic and phenotypic variations found within the species Equus ferus caballus. These breeds are categorized based on characteristics such as size, conformation, coat color, and temperament, which have been selectively bred over centuries to fulfill specific roles and functions. Common classifications of horse breeds include light horses, draft horses, and ponies, each serving different purposes ranging from riding and racing to work and companionship. This page aggregates peer-reviewed research studies and scholarly articles that explore the genetics, history, and functional attributes of various horse breeds, as well as their impact on equine management and breeding practices.
Wickizer LF, Burk SV, Lehman JS.Red maple toxicosis arises when horses consume wilted maple leaves, resulting in methemoglobinemia and hemolytic anemia due to oxidative damage to erythrocytes. Objective: The objective of this study was to determine how maple species (red versus Freeman maple) and horse characteristics, management, and barn site contributed to in vitro methemoglobin production and hemolysis. Methods: Horse information was obtained through an owner questionnaire. Extracts from red and Freeman maple leaves were separately incubated with washed erythrocytes from each horse (n=120). The in vitro percentage methem...
Armangau M, Lurier T, Josson A.Offspring Sex Ratio (OSR) at birth in mammals is generally assumed to follow a 1:1 male-to-female distribution, yet deviations in OSR have been observed and may be influenced by maternal and paternal factors. In this study we have focused on the effect of paternal factors (stallion age and breed) and breeding methods on the OSR. Using a retrospective dataset of 251,783 foal births recorded in France between 2015 and 2024, we applied generalized linear mixed models to evaluate the effects of these variables on the likelihood of producing a female foal. Stallion identity was included as a random...
Valera M, Encina A, Sánchez-Guerrero MJ, Rodríguez-Sainz de Los Terreros A, Bartolomé E.Behavioral and emotional reactivity assessment in sport horses is essential for optimizing their management and sports performance, particularly in equestrian disciplines such as Dressage. This study investigates, in Pura Raza Española (PRE) horses, the association between facial hair whorl (FHW) patterns, behavioral traits, and physiological stress responses using ocular temperature (OT) assessed with infrared thermography as, an objective, non-invasive physiological stress indicator. Unassigned: A total of 98 male PRE horses, aged 4-6 years old and all gray coated, were evaluated during the...
Kim T, Lee S, Seo JP.Foot diseases are common causes of lameness in horses. Computed tomography (CT) is a valuable tool for diagnosing musculoskeletal lesions in horses and providing a detailed evaluation of foot diseases. Objective: The objective of this study was to establish reference ranges related to the feet of normal Jeju horses by measuring the angles and length of the hoof, and the Hounsfield Unit (HU) value of soft tissues in the foot. Methods: Sixteen normal Jeju horses (mean age: 4.25 years; mean body weight: 282.06 kg) without lameness were examined using CT. After CT scanning, the angles and lengths ...
Calle-González N, Rivero JL, Argüelles D, Requena F, Muñoz A.Capacitive resistive electrical transfer (CRET) is a non-invasive electromagnetic diathermic technique. The effect of its application 24 h prior to exercise, compared to a sham application performed with the device off, was evaluated in 8 Spanish Purebred dressage stallions. CRET was applied bilaterally on the neck, back, and croup. The horses wore an accelerometer fixed on the sternal area during a dressage test, and spatiotemporal stride parameters, total and dorsoventral (DVAA), longitudinal (LAA), and mediolateral accelerometric activities, as well as dorsoventral displacement, were recor...
Choi Y, Jung Y, Wickens CL, Yoon M.Horses are social animals, with early life experiences playing a crucial role in their physiological and behavioral development. This study explored the influence of herd dynamics and foundational training on behavioral and hormonal changes in weaned foals. We examined 13 six-month-old Quarter Horse foals over a three-month training period, performing behavioral observations, temperament assessments, and hormone analyses at the start, midpoint, and end of the training. The results indicated that affiliative behaviors decreased significantly, while agonistic behaviors first increased and then d...
Gmel AI, Haraldsdóttir EH, Rosa TV, Lamas LP, Neuditschko M, Weishaupt MA.Europe has many horse breeds differing in conformation, gaits and genetics due to diverging breeding goals. Research studies comparing objective gait parameters between different horse breeds are limited and date back a decade. Objective: In this study, objective gait parameters were measured in three European breeds, namely Lusitanos (LUS; n = 52), Franches-Montagnes (FM; n = 311) and Swiss Warmblood (WB; n = 40) using an inertial measurement system (sensors at poll, withers, pelvis and all four canon bones) at walk and trot. Results: At walk and trot, LUS moved significantly slower than WB a...
Saldaña CL, Justo S, Murga L, Vásquez HV, Maicelo JL, Arbizu CI, Bardales W.The complete mitochondrial genome of the Peruvian Paso Horse was assembled using PacBio HiFi long reads, resulting in a high-quality circular genome of 16,617 bp comprising 13 protein-coding genes, 22 tRNAs, 2 rRNAs, and a control region. Nucleotide composition and gene structure were consistent with other equine mitogenomes. Codon usage analysis revealed a bias toward CUA (Leu), AUA and AUC (Ile), suggesting translational optimization. Thirty-five heteroplasmic variants were identified, predominantly located in RNA genes (12 S rRNA and tRNA-Phe), with allele frequencies between 0.10 and 0.6...
Rönnow E, Roth LSV.Compared to other companion animals, our understanding of the human-horse relationship is limited, particularly from the horse's perspective. This pilot study examined whether horses (N = 30) show a bias towards their owner in a reunion in the presence of both the owner and a stranger. Afterwards, the horses were also presented with the odor of the owner and a stranger. Both tests were video recorded for behavioral analyzation. No significant owner-directed bias was observed at the group level in either the reunion test or the odor test. Nonetheless, in the reunion test, owner bias in physical...
Pepper B, North E, Culwell J, Nicodemus MC, Cavinder C, Harvey K, Williams T.Due to the incorporation of the Golden American Saddlebred Horse Association (GASHA) into the American Saddlebred Horse and Breeders Association (ASHBA), breeding for coat color has become more challenging for horse breeders. However, with this merger, pedigree tracing can be of value in pinpointing foundation bloodlines within the GASHA that influence production of the golden coat phenotype. Objective: The study objective was to document the historical origins of the GASHA through pedigree tracing to determine the influence of dilution alleles that produce the golden coat phenotype. Methods: ...
Chessari G, Reich P, Criscione A, Falker-Gieske C, Mastrangelo S, Tumino S, Bordonaro S, Marletta D, Tetens J.Single nucleotide polymorphism (SNP) arrays are commonly used for studying the genomic structure and diversity of livestock breeds, but whole-genome sequencing (WGS) provides higher-resolution genomic data. Genotype imputation has become a standard practice for increasing the genomic resolution of association studies. This work aimed to extend imputation to biodiversity analyses, comparing SNP array data before and after imputation. A 40 k SNP dataset of 281 horses from 12 breeds (DS) was imputed to sequence-level using a reference panel of 327 sequenced individuals, generating approximately 9...
Moghbeli Damane M, Ayatollahi Mehrgardi A, Esmailizadeh A, Momen M.Inbreeding is caused by mating between related individuals and is associated with reduced fitness and performance. Generally, in the horse population, inbreeding is caused by geographically restricted areas and intensive natural or artificial selection. For this reason, assessing accurate inbreeding is essential for developing and implementing effective breeding strategies aimed at preserving genetic diversity and reducing the harmful consequences of inbreeding. One of the most accurate approaches for assessing genomic inbreeding and autozygosity is through the analysis of runs of homozygosity...
Stachurska A, Wnuk E, Łuszczyński J, Donderowicz W.Correct conformation and symmetry of bilateral hooves are associated with a properly balanced hoof, which has a significant impact on the biomechanics of movement and reduces the risk of injury. The aim of the study was to compare solear aspect dimensions of bilateral hooves in forelimbs (hoof width, length, frog width, length, medial and lateral diagonals) with regard to sex, breed and age of horses. The dimensions were measured with a calliper in 100 horses of four breeds. The results showed that the breed factor significantly affected all dimensions. Age was significant for some variables, ...
Pennington MV, Zoller JL, White-Springer SH, Harlin JF, Huseman CJ, Leatherwood JL, O'Reilly CL.Competition stress is a common factor influencing the success of performing athletes. However, few studies have quantified the physiological stress responses in horses and riders surrounding an equestrian event. Objective: The objectives of the current study were to determine salivary cortisol concentrations (SCC) as an indicator of stress in fifteen horse and rider pairs competing in western stock horse events and to investigate the relationship between SCC and performance. Methods: Subjects included male and female Quarter horses aged 3-15 years and equestrians aged 18-22 years. Salivary sam...
Zuluaga-Cabrera AM, Barbosa da Costa G, Martinez ID, Arias MP.Colombian Paso horses (CPs) excel in gait competitions due to their endurance, speed, and precision, which demand a high level of cardiorespiratory fitness. However, their training regimes often lack scientific support, and few studies have linked physiological parameters to optimal training zones. This study aimed to estimate the aerobic lactate threshold (LTaer) using mathematical methods and to correlate it with heart rate (HR) zones and blood lactate. Eighteen CPs were evaluated and classified into trained (GT) and untrained (GD) groups. All animals underwent a field-based incremental exer...
Taned M, Zandi MB, Salek Ardestani S, Abdoli M, Spangler ML.Race performance in Thoroughbred horses is influenced by both genetic and environmental factors. Understanding their genetic architecture is essential for designing effective breeding programs. Objective: This study aimed to estimate genetic parameters and trends for key performance traits in Iranian Thoroughbred racehorses. Methods: Performance data, including race completion time (RCT), rank at the end of the competition (REC), and average speed (AS), were obtained from the Iranian Equestrian Federation (2002-2021). Pedigree data from 14,391 individuals were analyzed using CFC software. Gene...
Lewczuk D, Borowska A, Andruszkiewicz J, Bagnicka E.Breeding value estimations of Warmblood horses in Poland are based on field performance, but the amount of stallions' data is still insufficient (334 horses). The first study's aim is to compare stallions' results in different stages and evaluate the overall ability using both stages. The effects on preselection (first stage free movement) and performance tests (second stage under rider) were analyzed separately and together as the overall ability. Spearman correlations were evaluated. The second aim was to evaluate the training period on the results. Due to the pandemic and lack of tests, hor...
Frontiers in geneticsNovember 12, 2025
Volume 16 1439312 doi: 10.3389/fgene.2025.1439312
Tang C, Yang B, Dawulietihan G, Xue L, Liu S, Yalimaimaiti Y, Wang Q, Yang N, Sun X, Wang Y, Wumaier A, Khizat S, Assanbayev T, Kozhanov Z....Xinjiang is a region renowned for its rich diversity of native horse breeds, making it one of the most affluent equine genetic resource areas in China. While prized for their high adaptability and tolerance to roughage, the conservation of these native breeds faces challenges from the introduction of external breeds and industrial changes. Furthermore, the unknown population structure of Xinjiang horse breeds has hindered effective conservation efforts. Unassigned: This study presents the first comprehensive Single Nucleotide Polymorphism (SNP) analysis of seven Xinjiang native horse breeds. W...
Taylor DEF, Lancaster BE, Ellis AD.There are few 24 h time budgets for horses, especially for domesticated horses kept at pasture. Most time budgets utilise short-term scan sampling, which can miss behaviours. This study aimed to assess the seasonal variation in continuous behaviour of domesticated Icelandic horses at pasture during winter and spring in fair weather. Eight Icelandic horses (11.25 ± 9.19 years; 7 geldings, 1 stallion) were observed in a 26 acre field. Herd location and individual behaviour were continuously observed during 3 h periods amounting to 3 × 24 h in winter and late spring, compiled over 43 days (~21 ...
Schumacher A, Merle R, Stöckle S, Gehlen H.Polo is an equestrian sport with a long tradition, but to date there is little scientific data on health risks, particularly lameness. In an international online survey, 145 polo players (47.6% female, 52.4% male) with an average of 13.4 years of playing experience were questioned about lameness risks and influencing factors. The respondents reported a median of six horses, most frequently mares as their best-performing and healthiest animals. Horse age was significantly associated with the risk of lameness, increasing by approximately 19.5% per year (OR = 1.195; = 0.030) and differed dependi...
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.The Silesian horse is a heavy warmblood breed developed in Polish Silesia through the covering of local mares by East Frisian and Oldenburg stallions. Because of its historical significance and genetic heritage, the breed is part of a conservation programme in Poland. One of the genetic disorders of concern in warmblood horses is fragile foal syndrome (FFS), an autosomal recessive disease caused by a mutation in the gene (c.2032G>A). Affected foals either perish in late pregnancy or are born with severe connective tissue abnormalities, leading to early death. As carriers do not exhibit sympto...
Sande A, Santosuosso E, Scharf JE, Shoemaker SJ, Temple S, Hemmerling K, Kell T, Leguillette R, Bayly WM.To compare maximal lactate steady-state (MLSS) speeds determined using a treadmill-dependent invasive reference method (RM) with 2 noninvasive methods based on heart rate variability-focused analysis of exercise ECGs. Unassigned: This was a randomized, blinded study using 7 fit Thoroughbreds. A standardized incremental exercise treadmill test (SET) where blood lactate concentration ([La]) was measured after every step facilitated calculation of speeds at which [La] was 1.5, 2.0, and 2.5 mmol/L. The RM required steady-state exercise (SS) at each of these speeds for 25 minutes or until [La] incr...
Ripollés-Lobo M, Perdomo-González DI, Azor P, Valera M.Investigate the genetic inbreeding depression load (IDL) on two dressage traits and two conformational defects in horses. Unassigned: The dataset included performance records for Walk and Points per Reprise (PPR) (N:43,838) and conformation data for Closed and Convergent hocks (N:57,949). Pedigree information spanned over 400,000 individuals. Inbreeding coefficients (F, F6, Fk) and partial inbreeding coefficient (Fij) were computed to quantify the IDL using Bayesian approach. Linear and ordinal logistic regressions were used to assess the relationship between inbreeding and phenotypic values. ...
Steensma MJ, Doekes HP, Derks MFL, Ducro BJ.In Friesian horses, withers height is an important trait as a minimum has been set to be eligible to the studbook. Several loci for withers height have been identified in horses. However, withers height has not been studied in the Friesian horse. Therefore, our aim was to identify loci associated with withers height in the Friesian horse population. We performed a genome-wide association study using 70 K SNP data of 2192 Friesian horses. We found ECA1 and ECA9 to be significantly associated with withers height, explaining 19.6% and 3.5% of the phenotypic variance, respectively. In other hors...
Wnuk E, Janicka W, Stachurska A, Owerczuk R, Łuszczyński J.Differences in the ranges and capacities of sensory modalities cause horses to perceive their surroundings differently than humans. To date, the horses' sense of smell has been studied mainly regarding social and reproductive behaviour. The role of olfaction in horse management and use also seems to be of utmost importance. The aim of this study was to determine the response to a scent of different intensities by horses of different sexes and types (warmblood horses vs ponies). The study involved 21 adult mares and geldings, of which 15 subjects learned how to complete the required task and we...
Gillen A, Hassel D, Gonzalez S, Savage V, Bauck A, Freeman D, Archer DC.Obstruction by strangulating lipoma (SLO) is one of the most common causes of small intestinal strangulation in horses and is fatal without surgery. Current knowledge of risk factors for SLO is limited to horse signalment features. To date, other risk factors have not been investigated. Objective: To investigate horse- and management-level risk factors for SLO using a population of healthy horses as controls. Methods: Matched, case-control study. Methods: A prospective, international multicentre study was conducted in the UK and USA between January 2022 and May 2024. Cases were horses with SLO...
Lewczuk D, Wypchło M, Hecold M, Buczkowska R, Korwin-Kossakowska A.Finding the causative mutations for musculoskeletal system development and health status is of a higher priority for all sport horse breeders' associations. Of the regulating proteins involved in animal ossification, 15 gene polymorphisms were chosen to be identified as connected with the nine fetlock and 14 hock bone structures measurements of 198 horses. All measurements were taken using X-rays of the limbs, which were available at the beginning and end of the horse training. The analysis of variance (GLM, SAS program) was performed taking into account identified training and horse-connected...
Mouncey R, de Mestre AM, Verheyen KL.Analyses of industry-level data suggest that around one-third of the UK and Ireland Thoroughbred foal crop fail to enter training. Prospective follow-up of individual horses could provide additional insight, particularly around individuals not attaining specific career milestones. Methods: A Thoroughbred birth cohort was established on stud farms across the UK and Ireland. Training, race performance, sales, export data, destinations and reasons for individuals failing to meet career milestones were collected from stud records, follow-up with owners, stud book and racing authorities' databases,...
Luštrek B, Šimon M, Turk K, Bogičević S, Potočnik K.In small, closed populations such as the Lipizzan horse, maintaining genetic diversity while limiting inbreeding is a key challenge in conservation breeding. The Lipizzan is an indigenous Slovenian breed with a small population and restricted gene flow from other subpopulations. Inbreeding is traditionally monitored with pedigree-based coefficients, but these often underestimate realised autozygosity, particularly when pedigree depth is limited. This study compared pedigree-based inbreeding (F_PED) with four genomic estimators (F_HOM, F_ROH, F_HBD, F_GRM) in 329 Slovenian Lipizzan horses genot...
da Silveira JC, Veeramachaneni DN, Winger QA, Carnevale EM, Bouma GJ.Proper cell communication within the ovarian follicle is critical for the growth and maturation of a healthy oocyte that can be fertilized and develop into an embryo. Cell communication within the follicle involves many signaling molecules and is affected by maternal age. Recent studies indicate that cell communication can be mediated through secretion and uptake of small membrane-enclosed vesicles. The goals of this study were to 1) identify cell-secreted vesicles (microvesicles and exosomes) containing miRNAs and proteins within ovarian follicular fluid and 2) determine if miRNA level differ...
Groeneveld LF, Lenstra JA, Eding H, Toro MA, Scherf B, Pilling D, Negrini R, Finlay EK, Jianlin H, Groeneveld E, Weigend S.Domestication of livestock species and a long history of migrations, selection and adaptation have created an enormous variety of breeds. Conservation of these genetic resources relies on demographic characterization, recording of production environments and effective data management. In addition, molecular genetic studies allow a comparison of genetic diversity within and across breeds and a reconstruction of the history of breeds and ancestral populations. This has been summarized for cattle, yak, water buffalo, sheep, goats, camelids, pigs, horses, and chickens. Further progress is expected...
Science (New York, N.Y.)May 9, 2018
Volume 360, Issue 6396 eaar7711 doi: 10.1126/science.aar7711
de Barros Damgaard P, Martiniano R, Kamm J, Moreno-Mayar JV, Kroonen G, Peyrot M, Barjamovic G, Rasmussen S, Zacho C, Baimukhanov N, Zaibert V....The Yamnaya expansions from the western steppe into Europe and Asia during the Early Bronze Age (~3000 BCE) are believed to have brought with them Indo-European languages and possibly horse husbandry. We analyzed 74 ancient whole-genome sequences from across Inner Asia and Anatolia and show that the Botai people associated with the earliest horse husbandry derived from a hunter-gatherer population deeply diverged from the Yamnaya. Our results also suggest distinct migrations bringing West Eurasian ancestry into South Asia before and after, but not at the time of, Yamnaya culture. We find no ev...
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...
Makvandi-Nejad S, Hoffman GE, Allen JJ, Chu E, Gu E, Chandler AM, Loredo AI, Bellone RR, Mezey JG, Brooks SA, Sutter NB.Horse body size varies greatly due to intense selection within each breed. American Miniatures are less than one meter tall at the withers while Shires and Percherons can exceed two meters. The genetic basis for this variation is not known. We hypothesize that the breed population structure of the horse should simplify efforts to identify genes controlling size. In support of this, here we show with genome-wide association scans (GWAS) that genetic variation at just four loci can explain the great majority of horse size variation. Unlike humans, which are naturally reproducing and possess many...
Achilli A, Olivieri A, Soares P, Lancioni H, Hooshiar Kashani B, Perego UA, Nergadze SG, Carossa V, Santagostino M, Capomaccio S, Felicetti M....Archaeological and genetic evidence concerning the time and mode of wild horse (Equus ferus) domestication is still debated. High levels of genetic diversity in horse mtDNA have been detected when analyzing the control region; recurrent mutations, however, tend to blur the structure of the phylogenetic tree. Here, we brought the horse mtDNA phylogeny to the highest level of molecular resolution by analyzing 83 mitochondrial genomes from modern horses across Asia, Europe, the Middle East, and the Americas. Our data reveal 18 major haplogroups (A-R) with radiation times that are mostly confined ...
Petersen JL, Mickelson JR, Cothran EG, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Distl O....Horses were domesticated from the Eurasian steppes 5,000-6,000 years ago. Since then, the use of horses for transportation, warfare, and agriculture, as well as selection for desired traits and fitness, has resulted in diverse populations distributed across the world, many of which have become or are in the process of becoming formally organized into closed, breeding populations (breeds). This report describes the use of a genome-wide set of autosomal SNPs and 814 horses from 36 breeds to provide the first detailed description of equine breed diversity. F(ST) calculations, parsimony, and dista...
Petersen JL, Mickelson JR, Rendahl AK, Valberg SJ, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A....Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping array, breed-specific targets of selection were identified using an F(ST)-based statistic calculated in 500-kb windows across the genome. A 5.5-Mb region of ECA18, in which the myostatin (MSTN) gene was centered, contained the highest signature of selection in both the Paint and Quarter Horse. Gene sequencing and histological analysis of gluteal muscle...
McCue ME, Bannasch DL, Petersen JL, Gurr J, Bailey E, Binns MM, Distl O, Guérin G, Hasegawa T, Hill EW, Leeb T, Lindgren G, Penedo MC, Røed KH....An equine SNP genotyping array was developed and evaluated on a panel of samples representing 14 domestic horse breeds and 18 evolutionarily related species. More than 54,000 polymorphic SNPs provided an average inter-SNP spacing of ∼43 kb. The mean minor allele frequency across domestic horse breeds was 0.23, and the number of polymorphic SNPs within breeds ranged from 43,287 to 52,085. Genome-wide linkage disequilibrium (LD) in most breeds declined rapidly over the first 50-100 kb and reached background levels within 1-2 Mb. The extent of LD and the level of inbreeding were highest in the ...
Science (New York, N.Y.)February 13, 2001
Volume 291, Issue 5503 474-477 doi: 10.1126/science.291.5503.474
Vilà C, Leonard JA, Gotherstrom A, Marklund S, Sandberg K, Liden K, Wayne RK, Ellegren H.Domestication entails control of wild species and is generally regarded as a complex process confined to a restricted area and culture. Previous DNA sequence analyses of several domestic species have suggested only a limited number of origination events. We analyzed mitochondrial DNA (mtDNA) control region sequences of 191 domestic horses and found a high diversity of matrilines. Sequence analysis of equids from archaeological sites and late Pleistocene deposits showed that this diversity was not due to an accelerated mutation rate or an ancient domestication event. Consequently, high mtDNA se...
Fortier LA, Mohammed HO, Lust G, Nixon AJ.Composites of chondrocytes and polymerised fibrin were supplemented with insulin-like growth factor-I (IGF-I) during the arthroscopic repair of full-thickness cartilage defects in a model of extensive loss of cartilage in horses. Repairs facilitated with IGF-I and chondrocyte-fibrin composites, or control defects treated with chondrocyte-fibrin composites alone, were compared before death by the clinical appearance and repeated analysis of synovial fluid, and at termination eight months after surgery by tissue morphology, collagen typing, and biochemical assays. The structure of cartilage was ...
Science (New York, N.Y.)February 22, 2018
Volume 360, Issue 6384 111-114 doi: 10.1126/science.aao3297
Gaunitz C, Fages A, Hanghøj K, Albrechtsen A, Khan N, Schubert M, Seguin-Orlando A, Owens IJ, Felkel S, Bignon-Lau O, de Barros Damgaard P....The Eneolithic Botai culture of the Central Asian steppes provides the earliest archaeological evidence for horse husbandry, ~5500 years ago, but the exact nature of early horse domestication remains controversial. We generated 42 ancient-horse genomes, including 20 from Botai. Compared to 46 published ancient- and modern-horse genomes, our data indicate that Przewalski's horses are the feral descendants of horses herded at Botai and not truly wild horses. All domestic horses dated from ~4000 years ago to present only show ~2.7% of Botai-related ancestry. This indicates that a massive genomic ...
Jansen T, Forster P, Levine MA, Oelke H, Hurles M, Renfrew C, Weber J, Olek K.The place and date of the domestication of the horse has long been a matter for debate among archaeologists. To determine whether horses were domesticated from one or several ancestral horse populations, we sequenced the mitochondrial D-loop for 318 horses from 25 oriental and European breeds, including American mustangs. Adding these sequences to previously published data, the total comes to 652, the largest currently available database. From these sequences, a phylogenetic network was constructed that showed that most of the 93 different mitochondrial (mt)DNA types grouped into 17 distinct p...
Rieder S, Taourit S, Mariat D, Langlois B, Guérin G.Coat color genetics, when successfully adapted and applied to different mammalian species, provides a good demonstration of the powerful concept of comparative genetics. Using cross-species techniques, we have cloned, sequenced, and characterized equine melanocortin-1-receptor (MC1R) and agouti-signaling-protein (ASIP), and completed a partial sequence of tyrosinase-related protein 1 (TYRP1). The coding sequences and parts of the flanking regions of those genes were systematically analyzed in 40 horses and mutations typed in a total of 120 horses. Our panel represented 22 different horse breed...
Fages A, Hanghøj K, Khan N, Gaunitz C, Seguin-Orlando A, Leonardi M, McCrory Constantz C, Gamba C, Al-Rasheid KAS, Albizuri S, Alfarhan AH....Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (≥1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modern legacy of past equestrian civilizations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contr...
Ludwig A, Pruvost M, Reissmann M, Benecke N, Brockmann GA, Castaños P, Cieslak M, Lippold S, Llorente L, Malaspinas AS, Slatkin M, Hofreiter M.The transformation of wild animals into domestic ones available for human nutrition was a key prerequisite for modern human societies. However, no other domestic species has had such a substantial impact on the warfare, transportation, and communication capabilities of human societies as the horse. Here, we show that the analysis of ancient DNA targeting nuclear genes responsible for coat coloration allows us to shed light on the timing and place of horse domestication. We conclude that it is unlikely that horse domestication substantially predates the occurrence of coat color variation, which...
Signer-Hasler H, Flury C, Haase B, Burger D, Simianer H, Leeb T, Rieder S.The molecular analysis of genes influencing human height has been notoriously difficult. Genome-wide association studies (GWAS) for height in humans based on tens of thousands to hundreds of thousands of samples so far revealed ∼200 loci for human height explaining only 20% of the heritability. In domestic animals isolated populations with a greatly reduced genetic heterogeneity facilitate a more efficient analysis of complex traits. We performed a genome-wide association study on 1,077 Franches-Montagnes (FM) horses using ∼40,000 SNPs. Our study revealed two QTL for height at withers on c...
Marklund L, Moller MJ, Sandberg K, Andersson L.The melanocyte-stimulating hormone receptor gene (MC1R) is the major candidate gene for the chestnut coat color in horses since it is assumed to be controlled by an allele at the extension locus. MC1R sequences were PCR amplified from chestnut (e/e) and non-chestnut (E/-) horses. A single-strand conformation polymorphism was found that showed a complete association to the chestnut coat color among 144 horses representing 12 breeds. Sequence analysis revealed a single missense mutation (83Ser-->Phe) in the MC1R allele associated with the chestnut color. The substitution occurs in the second ...
Baumber J, Ball BA, Gravance CG, Medina V, Davies-Morel MC.The objective of this study was to examine the influence of reactive oxygen species (ROS), generated through the use of the xanthine (X)-xanthine oxidase (XO) system, on equine sperm motility, viability, acrosomal integrity, mitochondrial membrane potential, and membrane lipid peroxidation. Equine spermatozoa were separated from seminal plasma on a discontinuous Percoll gradient, and spermatozoa were incubated with 0.6 mM X and 0.05 U/mL XO for 30 minutes. Catalase (150 U/mL), superoxide dismutase (SOD, 150 U/mL), or glutathione (GSH, 1.5 mM) were evaluated for their ability to preserve sperm ...
Xu X, Arnason U.The sequence of the mitochondrial (mt) DNA of the horse (Equus caballus) was determined. The length of the sequence presented is 16,660 bp. This figure, however, is not absolute due to pronounced heteroplasmy caused by variable numbers of the motif GTGCACCT in the control region of different molecules. Boundaries of the 13 peptide-coding genes were determined by the presence of start and stop codons, and by analogy with other eutherian mtDNAs. Three genes (COIII, NADH3 and NADH4) were not terminated by a stop codon. Comparison among the peptide-coding genes of the horse and eight other mammals...
Science (New York, N.Y.)April 30, 2017
Volume 356, Issue 6336 442-445 doi: 10.1126/science.aam5298
Librado P, Gamba C, Gaunitz C, Der Sarkissian C, Pruvost M, Albrechtsen A, Fages A, Khan N, Schubert M, Jagannathan V, Serres-Armero A, Kuderna LFK....The genomic changes underlying both early and late stages of horse domestication remain largely unknown. We examined the genomes of 14 early domestic horses from the Bronze and Iron Ages, dating to between ~4.1 and 2.3 thousand years before present. We find early domestication selection patterns supporting the neural crest hypothesis, which provides a unified developmental origin for common domestic traits. Within the past 2.3 thousand years, horses lost genetic diversity and archaic DNA tracts introgressed from a now-extinct lineage. They accumulated deleterious mutations later than expected ...
Hill EW, Gu J, Eivers SS, Fonseca RG, McGivney BA, Govindarajan P, Orr N, Katz LM, MacHugh DE.Variants of the MSTN gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range of mammalian species, most notably cattle, dogs, mice, and humans. Using a sample of registered Thoroughbred horses (n = 148), we have identified a novel MSTN sequence polymorphism that is strongly associated (g.66493737C>T, P = 4.85x10(-8)) with best race distance among elite racehorses (n = 79). This observation was independently validated (P = 1.91x10(-6)) in a resampled group of Thoroughbreds (n = 62) and in a cohort of Thoroughbreds (n = 37, P = 0.0047) produced by the same trainer...
Bellone RR, Brooks SA, Sandmeyer L, Murphy BA, Forsyth G, Archer S, Bailey E, Grahn B.The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Recept...
Tetens J, Widmann P, Kühn C, Thaller G.A genome-wide association scan for loci affecting withers height was conducted in 782 German Warmblood stallions, which were genotyped using the Illumina EquineSNP50 Bead Chip. A principal components approach was applied to correct for population structure. The analysis revealed a single major QTL on ECA3 explaining ~18 per cent of the phenotypic variance, which is in concordance with recent reports from other horse populations. The LCORL/NCAPG locus represents a strong candidate gene for this QTL. This locus is among a small number that have consistently been identified to influence human hei...
Cieslak M, Pruvost M, Benecke N, Hofreiter M, Morales A, Reissmann M, Ludwig A.Domestic horses represent a genetic paradox: although they have the greatest number of maternal lineages (mtDNA) of all domestic species, their paternal lineages are extremely homogeneous on the Y-chromosome. In order to address their huge mtDNA variation and the origin and history of maternal lineages in domestic horses, we analyzed 1961 partial d-loop sequences from 207 ancient remains and 1754 modern horses. The sample set ranged from Alaska and North East Siberia to the Iberian Peninsula and from the Late Pleistocene to modern times. We found a panmictic Late Pleistocene horse population r...
Hill EW, McGivney BA, Gu J, Whiston R, Machugh DE.Thoroughbred horses have been selected for traits contributing to speed and stamina for centuries. It is widely recognized that inherited variation in physical and physiological characteristics is responsible for variation in individual aptitude for race distance, and that muscle phenotypes in particular are important. Results: A genome-wide SNP-association study for optimum racing distance was performed using the EquineSNP50 Bead Chip genotyping array in a cohort of n = 118 elite Thoroughbred racehorses divergent for race distance aptitude. In a cohort-based association test we evaluated geno...
Leroy G, Mary-Huard T, Verrier E, Danvy S, Charvolin E, Danchin-Burge C.Effective population sizes of 140 populations (including 60 dog breeds, 40 sheep breeds, 20 cattle breeds and 20 horse breeds) were computed using pedigree information and six different computation methods. Simple demographical information (number of breeding males and females), variance of progeny size, or evolution of identity by descent probabilities based on coancestry or inbreeding were used as well as identity by descent rate between two successive generations or individual identity by descent rate. Results: Depending on breed and method, effective population sizes ranged from 15 to 133 ...
Metzger J, Schrimpf R, Philipp U, Distl O.Body size is an important characteristic for horses of various breeds and essential for the classification of ponies concerning the limit value of 148 cm (58.27 inches) height at the withers. Genome-wide association analyses revealed the highest associated quantitative trait locus for height at the withers on horse chromosome (ECA) 3 upstream of the candidate gene LCORL. Using 214 Hanoverian horses genotyped on the Illumina equine SNP50 BeadChip and 42 different horse breeds across all size ranges, we confirmed the highly associated single nucleotide polymorphism BIEC2-808543 (-log(10)P = ...
Liu X, Zhang Y, Li Y, Pan J, Wang D, Chen W, Zheng Z, He X, Zhao Q, Pu Y, Guan W, Han J, Orlando L, Ma Y, Jiang L.High altitude represents some of the most extreme environments worldwide. The genetic changes underlying adaptation to such environments have been recently identified in multiple animals but remain unknown in horses. Here, we sequence the complete genome of 138 domestic horses encompassing a whole altitudinal range across China to uncover the genetic basis for adaptation to high-altitude hypoxia. Our genome data set includes 65 lowland animals across ten Chinese native breeds, 61 horses living at least 3,300 m above sea level across seven locations along Qinghai-Tibetan Plateau, as well as 7...
Lindgren G, Backström N, Swinburne J, Hellborg L, Einarsson A, Sandberg K, Cothran G, Vilà C, Binns M, Ellegren H.Genetic studies using mitochondrial DNA (mtDNA) have identified extensive matrilinear diversity among domestic horses. Here, we show that this high degree of polymorphism is not matched by a corresponding patrilinear diversity of the male-specific Y chromosome. In fact, a screening for single-nucleotide polymorphisms (SNPs) in 14.3 kb of noncoding Y chromosome sequence among 52 male horses of 15 different breeds did not identify a single segregation site. These observations are consistent with a strong sex-bias in the domestication process, with few stallions contributing genetically to the do...
