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Topic:Pedigree

Pedigree analysis in horses involves the study of lineage and ancestry to understand genetic relationships and inheritance patterns. It is a tool used to track traits, performance potential, and hereditary diseases within horse populations. Pedigree records often include detailed information on the ancestors of a horse, going back several generations, and can help in making informed breeding decisions. This page assembles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of pedigree analysis in equine breeding and genetics.
Two Variants in SLC24A5 Are Associated with “Tiger-Eye” Iris Pigmentation in Puerto Rican Paso Fino Horses.
G3 (Bethesda, Md.)    August 7, 2017   Volume 7, Issue 8 2799-2806 doi: 10.1534/g3.117.043786
Mack M, Kowalski E, Grahn R, Bras D, Penedo MCT, Bellone R.A unique eye color, called tiger-eye, segregates in the Puerto Rican Paso Fino (PRPF) horse breed and is characterized by a bright yellow, amber, or orange iris. Pedigree analysis identified a simple autosomal recessive mode of inheritance for this trait. A genome-wide association study (GWAS) with 24 individuals identified a locus on ECA 1 reaching genome-wide significance ( = 1.32 × 10). This ECA1 locus harbors the candidate gene, (), (), with known roles in pigmentation in humans, mice, and zebrafish. Humans with compound heterozygous mutations in have oculocutaneous albinism (OCA) type...
Investigation of genetic diversity and inbreeding in a Japanese native horse breed for suggestions on its conservation.
Animal science journal = Nihon chikusan Gakkaiho    July 21, 2017   Volume 88, Issue 12 1902-1910 doi: 10.1111/asj.12867
Onogi A, Shirai K, Amano T.Because native breeds can serve as genetic resources for adapting to environment changes, their conservation is important for future agroecosystems. Using pedigree analysis, we investigated genetic diversity and inbreeding in Japanese Hokkaido native horses, which have adapted to a cold climate and roughage diet. Genetic diversity was measured as the number of founders and the effective number of founders, ancestors and genomes. All metrics imply a decrease in genetic diversity. A comparison of these metrics suggested that pedigree bottlenecks contributed more than did random gene losses to th...
Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions.
Current biology : CB    June 29, 2017   Volume 27, Issue 13 2029-2035.e5 doi: 10.1016/j.cub.2017.05.086
Wallner B, Palmieri N, Vogl C, Rigler D, Bozlak E, Druml T, Jagannathan V, Leeb T, Fries R, Tetens J, Thaller G, Metzger J, Distl O, Lindgren G....The Y chromosome directly reflects male genealogies, but the extremely low Y chromosome sequence diversity in horses has prevented the reconstruction of stallion genealogies [1, 2]. Here, we resolve the first Y chromosome genealogy of modern horses by screening 1.46 Mb of the male-specific region of the Y chromosome (MSY) in 52 horses from 21 breeds. Based on highly accurate pedigree data, we estimated the de novo mutation rate of the horse MSY and showed that various modern horse Y chromosome lineages split much later than the domestication of the species. Apart from few private northern Euro...
Cross-validation analysis for genetic evaluation models for ranking in endurance horses.
Animal : an international journal of animal bioscience    June 21, 2017   Volume 12, Issue 1 20-27 doi: 10.1017/S1751731117001331
García-Ballesteros S, Varona L, Valera M, Gutiérrez JP, Cervantes I.Ranking trait was used as a selection criterion for competition horses to estimate racing performance. In the literature the most common approaches to estimate breeding values are the linear or threshold statistical models. However, recent studies have shown that a Thurstonian approach was able to fix the race effect (competitive level of the horses that participate in the same race), thus suggesting a better prediction accuracy of breeding values for ranking trait. The aim of this study was to compare the predictability of linear, threshold and Thurstonian approaches for genetic evaluation of...
Genetic diversity of Syrian Arabian horses.
Animal genetics    May 31, 2017   Volume 48, Issue 4 486-489 doi: 10.1111/age.12568
Almarzook S, Reissmann M, Arends D, Brockmann GA.Although Arabian horses have been bred in strains for centuries and pedigrees have been recorded in studbooks, to date, little is known about the genetic diversity within and between these strains. In this study, we tested if the three main strains of Syrian Arabian horses descend from three founders as suggested by the studbook. We examined 48 horses representing Saglawi (n = 18), Kahlawi (n = 16) and Hamdani (n = 14) strains using the Equine SNP70K BeadChip. For comparison, an additional 24 Arabian horses from the USA and three Przewalski's horses as an out group were added. Observed h...
Estimates of heritability of atrial fibrillation in the Standardbred racehorse.
Equine veterinary journal    May 10, 2017   Volume 49, Issue 6 718-722 doi: 10.1111/evj.12687
Kraus M, Physick-Sheard PW, Brito LF, Schenkel FS.The number of Standardbred racehorses admitted to the Ontario Veterinary College Teaching Hospital (Guelph, Canada) for treatment of atrial fibrillation (AF) has been on the rise since the early 1990s. A small number of sires have been contributing to a large proportion of cases, indicating there may be a genetic predisposition to the arrhythmia in this breed. Objective: The objectives of this study were to determine the heritability of AF in Standardbred horses and whether heritability of the arrhythmia differs across gaits and/or sexes. Methods: Heritability study based on retrospective revi...
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
International journal of cancer    May 8, 2017   Volume 141, Issue 2 342-353 doi: 10.1002/ijc.30744
Bellone RR, Liu J, Petersen JL, Mack M, Singer-Berk M, Drögemüller C, Malvick J, Wallner B, Brem G, Penedo MC, Lassaline M.Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0.04). Sequencing the most physiologicall...
Application of Genomic Estimation Methods of Inbreeding and Population Structure in an Arabian Horse Herd.
The Journal of heredity    April 27, 2017   Volume 108, Issue 4 361-368 doi: 10.1093/jhered/esx025
Al Abri MA, König von Borstel U, Strecker V, Brooks SA.Horse breeders rely heavily on pedigrees for identification of ancestry in breeding stock. Inaccurate pedigrees may erroneously assign individuals to false lineages or breed memberships resulting in wrong estimates of inbreeding and coancestry. Moreover, discrepancies in pedigree records can lead breeders seeking to limit inbreeding into making misguided breeding decisions. Genome-wide SNPs provide a quantitative tool to aid in the resolution of lineage assignments and the calculation of genomic measures of relatedness. The aim of this project was to pilot a comparison between pedigree and gen...
Pedigree analysis of the Turkish Arab horse population: structure, inbreeding and genetic variability.
Animal : an international journal of animal bioscience    February 13, 2017   Volume 11, Issue 9 1449-1456 doi: 10.1017/S175173111700009X
Duru S.The aim of this study was to evaluate genetic variability in the Turkish Arab horse population using pedigree information. This study is the first detailed pedigree analysis of the breed in Turkey. Pedigree data were collected from the National Studbook. The pedigree data for 23 668 horses, born between 1904 and 2014, were used in the analysis. From this data set, a reference population (RP) of 14 838 animals symbolising the last generation was defined. Demographic parameters, the inbreeding level (F), the average relatedness (AR), the effective population size (N e), the effective number of f...
Genetic diversity of the Yonaguni horse based on polymorphisms in microsatellites and mitochondrial DNA.
The Journal of veterinary medical science    December 31, 2016   Volume 79, Issue 2 425-431 doi: 10.1292/jvms.16-0040
Senju N, Tozaki T, Kakoi H, Shinjo A, Matsuyama R, Almunia J, Takasu M.Thirty-two microsatellites and a mitochondrial DNA haplotypes of endangered Yonaguni horses were analyzed to establish a pedigree registration system and to understand their genetic diversity for planning effective conservation. Blood samples were collected from 78 of the 130 horses in existence, and DNA was extracted and genotyped. There were two major findings. One is that it is possible to use microsatellites for Yonaguni horse pedigree registration in the future because the power of exclusion of parentage testing is reliable at 0.999998. The second is the clarification of the current genet...
Diversity of mitochondrial DNA in three Arabian horse strains.
Journal of applied genetics    December 14, 2016   Volume 58, Issue 2 273-276 doi: 10.1007/s13353-016-0384-z
Almarzook S, Reissmann M, Brockmann GA.Arabian horse registries classify Arabian horses based on their dam lineages into five main strains. To test the maternal origin of Syrian Arabian horses, 192 horses representing the three major strains Saglawi, Kahlawi, and Hamdani were sequenced for 353 bp of their mitochondrial displacement loop (D-loop) region. Sequencing revealed 28 haplotypes comprising 38 sequence variations. The haplotype diversity values were 0.95, 0.91, and 0.90 in Kahlawi, Hamdani, and Saglawi strains, respectively. The pair-wise population differentiation estimates (Fst) between strains were low, ranging between 0...
Runs of homozygosity: current knowledge and applications in livestock.
Animal genetics    December 1, 2016   Volume 48, Issue 3 255-271 doi: 10.1111/age.12526
Peripolli E, Munari DP, Silva MVGB, Lima ALF, Irgang R, Baldi F.This review presents a broader approach to the implementation and study of runs of homozygosity (ROH) in animal populations, focusing on identifying and characterizing ROH and their practical implications. ROH are continuous homozygous segments that are common in individuals and populations. The ability of these homozygous segments to give insight into a population's genetic events makes them a useful tool that can provide information about the demographic evolution of a population over time. Furthermore, ROH provide useful information about the genetic relatedness among individuals, helping t...
Genetic characterization of the Miyako horse based on polymorphisms of microsatellites and mitochondrial DNA.
The Journal of veterinary medical science    October 28, 2016   Volume 79, Issue 1 218-223 doi: 10.1292/jvms.16-0111
Senju N, Tozaki T, Kakoi H, Almunia J, Maeda M, Matsuyama R, Takasu M.To help plan conservation of the endangered Miyako horse, a biological resource of the Miyako Islands in Japan, we characterized the genetics of the breed by genotyping 32 microsatellites and identifying mitochondrial DNA haplotypes. We also calculated genetic distances between individuals based on the proportion of shared alleles and visualized the genetic relationships with a phylogenetic tree. Two important results were obtained. One is that accurate pedigree registration of the horse by using microsatellites is possible, as the exclusion power of parentage testing is 0.999998. Another is t...
Genetic correlations between dressage, show jumping and studbook-entry inspection traits in a process of specialization in Dutch Warmblood horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    September 27, 2016   Volume 134, Issue 2 162-171 doi: 10.1111/jbg.12241
Rovere G, Ducro BJ, van Arendonk JA, Norberg E, Madsen P.Sport performance in dressage and show jumping are two important traits in the breeding goals of many studbooks. To determine the optimum selection scheme for jumping and dressage, knowledge is needed on the genetic correlation between both disciplines and between traits measured early in life and performance in competition in each discipline. This study aimed to estimate genetic parameters to support decision-making on specialization of breeding horses for dressage and show jumping in Dutch warmblood horses. Genetic correlations between performance of horses in dressage and show jumping were ...
A case study utilizing myofascial release, acupressure and trigger point therapy to treat bilateral “Stringhalt” in a 12 year old Akhal-Teke horse.
Journal of bodywork and movement therapies    September 16, 2016   Volume 21, Issue 3 589-593 doi: 10.1016/j.jbmt.2016.08.019
Brockman T."Stringhalt" is a horse condition that causes one or both hind legs to spasm when walking, trotting or backing. The condition is thought to be related to a neurological cause from either plant toxicity or peripheral nerve injury. The prognosis is poor and the horse's performance and quality of life can be affected. Treatment has included surgically cutting the digital extensors with varied results. The objective of the study is to utilize soft tissue release via acupressure, trigger point and myofascial release to decrease symptoms of stringhalt. The case study is a 12 year old Akhal-Teke hors...
An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture.
G3 (Bethesda, Md.)    September 8, 2016   Volume 6, Issue 9 2963-2970 doi: 10.1534/g3.116.032433
Murgiano L, Waluk DP, Towers R, Wiedemar N, Dietrich J, Jagannathan V, Drögemüller M, Balmer P, Druet T, Galichet A, Penedo MC, Müller EJ....We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)" for this specific form of brindle. In some BR1 horses, the stripes were also differentially pigmented. Pedigree analyses were suggestive of a monogenic X-chromosomal semidominant mode of inheritance. Haplotype analyses identified a 5 Mb candidate region on chromosome X. Whole genome sequencing of four BR1 and 60 nonbrindle horses identified 61 private v...
Heritability and prevalence of selected osteochondrosis lesions in yearling Thoroughbred horses.
Equine veterinary journal    September 4, 2016   Volume 49, Issue 3 282-287 doi: 10.1111/evj.12613
Russell J, Matika O, Russell T, Reardon RJ.Osteochondrosis is considered multifactorial in origin, with factors such as nutrition, conformation, body size, trauma and genetics thought to contribute to its pathogenesis. Few studies have investigated the effects of genetic variability of osteochondrosis in Thoroughbreds. Objective: To describe the prevalence and genetic variability of a subset of osteochondrosis lesions in a group of Thoroughbred yearlings. Methods: Retrospective cohort study. Methods: Radiographs of 1962 Thoroughbred yearlings were retrieved from clinical records obtained between 2005 and 2013. Pedigree information was ...
Genetic diversity of Thoroughbred horse population from Bosnia and Herzegovina based on 17 microsatellite markers.
The Japanese journal of veterinary research    September 1, 2016   Volume 64, Issue 3 215-220 
Rukavian D, Hasanbasic D, Ramic J, Zahirovic A, Ajanovic A, Beganovic K, Durmic-Pasic A, Kalamujic B, Pojskic N.The focus of this study was on genetic diversity of TB horse population raised in B&H. Genomic DNA was genotyped by using 17 microsatellite markers. A total of 103 alleles were detected. The average number of alleles per locus was 6.059 and effective number of alleles was 3.293. Means of observed and expected heterozygosity were calculated 0.645 and 0.696, respectively. The average PIC values was 0.649 and inbreeding coefficient was 0.090. Based on all observed parameters, ASB2 locus showed the highest genetic diversity while locus HMS2 was the least diverse. These results suggest that the pop...
Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development. Bolzon C, Joonè CJ, Schulman ML, Harper CK, Villagómez DA, King WA, Révay T.Disorders of sex development (DSD) have long been documented in domestic animal species including horses. However, there is only a single report of an androgen receptor (AR) mutation causative of such a DSD syndrome in a horse pedigree. Here, we present a new familial AR mutation in horses. A missense mutation (c.2042G>C) at AR exon 4 explains the segregation of the DSD in a Thoroughbred horse pedigree. The mutation, expected to affect the ligand-binding domain of the AR protein, led to complete androgen insensitivity of 64,XY SRY+, testicular DSD individuals. Additionally, the design of a ...
Heritabilities of health traits in Swiss Warmblood horses.
Equine veterinary journal    December 25, 2015   Volume 49, Issue 1 15-18 doi: 10.1111/evj.12537
Lauper M, Gerber V, Ramseyer A, Burger D, Lüth A, Koch C, Dolf G.There is a lack of evidence regarding genetic parameters of health traits in Swiss Warmblood horses. Objective: To estimate heritabilities of equine sarcoid disease, horn quality of hooves, prognathism and increased filling of talocrural joints as a possible indicator for osteochondrosis in Swiss Warmblood horses examined at the field tests for 3-year-olds between 2005 and 2013. Methods: Retrospective analysis of breed society database. Methods: Swiss Warmblood horses were examined clinically by 13 veterinarians at field tests in Switzerland between 2005 and 2013. The presence of sarcoids, hor...
Genetic Diversity, Parentage Verification, and Genetic Bottlenecks Evaluation in Iranian Turkmen Horse Breed.
Genetika    November 27, 2015   Volume 51, Issue 9 1066-1074 doi: 10.7868/s0016675815090088
Rahimi-Mianji G, Nejati-Javaremi A, Farhadi A.The present study was undertaken to genetically evaluate Turkmen horses for genetic diversity and to evaluate whether they have experienced any recent genetic bottlenecks. A total of 565 individuals from Turkmen horses were characterized for within breed diversity using 12 microsatellite markers. The estimated mean allelic diversity was (9.42 ± 1.78) per locus, with a total of 131 alleles in genotyped samples. A high level of genetic variability within this breed was observed in terms of high values of effective number of alleles (4.70 ± 1.36), observed heterozygosity (0.757 ± 0.19), expect...
Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting.
Animal genetics    November 16, 2015   Volume 47, Issue 1 91-101 doi: 10.1111/age.12375
Holl HM, Brooks SA, Archer S, Brown K, Malvick J, Penedo MC, Bellone RR.Leopard complex spotting (LP), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique depigmentation patterns in the horse. Although the LP mutation allows for expression of the various patterns, other loci are responsible for modification of the extent of white. Pedigree analysis of families segregating for high levels of patterning indicated a single dominant gene, named Pattern-1 (PATN1), as a major modifier of LP. Linkage analysis in two half-sibling families segregating for PATN1 identified a 15-Mb region on ECA3p that warranted further investigation. Wh...
Should we use the single nucleotide polymorphism linked to in genomic evaluation of French trotter?
Journal of animal science    November 3, 2015   Volume 93, Issue 10 4651-4659 doi: 10.2527/jas.2015-9224
Brard S, Ricard A.An A/C mutation responsible for the ability to pace in horses was recently discovered in the gene. It has also been proven that allele C has a negative effect on trotters' performances. However, in French trotters (FT), the frequency of allele A is only 77% due to an unexpected positive effect of allele C in late-career FT performances. Here we set out to ascertain whether the genotype at SNP (linked to ) should be used to compute EBV for FT. We used the genotypes of 630 horses, with 41,711 SNP retained. The pedigree comprised 5,699 horses. Qualification status (trotters need to complete a 2,0...
A genetic analysis of the Italian Salernitano horse.
Animal : an international journal of animal bioscience    July 6, 2015   Volume 9, Issue 10 1610-1616 doi: 10.1017/S1751731115001019
Criscione A, Moltisanti V, Chies L, Marletta D, Bordonaro S.Salernitano (SAL) is an ancient Italian horse breed developed over the course of the ages together with Napoletano and, during the 20th century, by crossing with Thoroughbred horse lines. Excellent in hurdle jumping, this breed is currently facing a concrete risk of extinction due to the lack of appropriate management strategies. This research is the first SAL genetic characterization that aims to set up the basic knowledge for a conservation plan. A representative sample of 61 SALs was analyzed by means of a set of 16 microsatellites markers (short tandem repeats (STRs)). The sequence of hype...
Racehorses are getting faster.
Biology letters    June 26, 2015   Volume 11, Issue 6 20150310 doi: 10.1098/rsbl.2015.0310
Sharman P, Wilson AJ.Previous studies have concluded that thoroughbred racehorse speed is improving very slowly, if at all, despite heritable variation for performance and putatively intensive selective breeding. This has led to the suggestion that racehorses have reached a selection limit. However, previous studies have been limited, focusing only on the winning times of a few elite races run over middle and long distances, and failing to account for potentially confounding factors. Using a much larger dataset covering the full range of race distances and accounting for variation in factors such as ground softnes...
Effect of specialization on genetic parameters of studbook-entry inspection in Dutch Warmblood horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    May 27, 2015   Volume 132, Issue 6 441-448 doi: 10.1111/jbg.12166
Rovere G, Madsen P, Norberg E, van Arendonk JA, Ducro BJ.Recent studies on data from the Dutch Warmblood Studbook (KWPN) have shown that the ongoing specialization of horses for either dressage (DH) or show jumping (JH) has led to a decreasing genetic relationship between the two subpopulations. The aim of this study was to analyse the effect of the specialization process on the genetic parameters of traits measured in the studbook-entry inspection of KWPN during the last fifteen years. Data from 18,125 DH and 23,800 JH recorded from 1998 until 2013 were used to analyse 13 traits scored in both DH and JH. Analyses were performed in a Bayesian framew...
Potential role of maternal lineage in the thoroughbred breeding strategy.
Reproduction, fertility, and development    May 5, 2015   doi: 10.1071/RD15063
Lin X, Zhou S, Wen L, Davie A, Yao X, Liu W, Zhang Y.Many studies have focused on identifying the genes or single nucleotide polymorphisms associated with the athletic ability of thoroughbreds, but few have considered differences in maternal and paternal heritability of athletic ability. Herein, we report on our association study of career race performances of 675 Australian thoroughbreds with their pedigrees. Racing performance data (prize money per start) were collected from the Bloodhound database. The performance of all horses was categorised as either poor or elite athletic achievement. Then, 675 foals were divided by their parents' perform...
Morphological and genetic characterization of an emerging Azorean horse breed: the Terceira Pony.
Frontiers in genetics    February 27, 2015   Volume 6 62 doi: 10.3389/fgene.2015.00062
Lopes MS, Mendonça D, Rojer H, Cabral V, Bettencourt SX, da Câmara Machado A.The Terceira Pony is a horse indigenous to Terceira Island in the Azores. These horses were very important during the colonization of the island. Due to their very balanced proportions and correct gaits, and with an average withers height of 1.28 m, the Terceira Pony is often confused with a miniature pure-bred Lusitano. This population was officially recognized as the fourth Portuguese equine breed by the national authorities in January, 2014. The aim of this study was to analyze the morphology and the genetic diversity by means of microsatellite markers of this emerging horse breed. The biom...
Ancient DNA. The thoroughly bred horse.
Science (New York, N.Y.)    December 20, 2014   Volume 346, Issue 6216 1439 doi: 10.1126/science.346.6216.1439
Gibbons A.No abstract available
Limbal squamous cell carcinoma in Haflinger horses.
Veterinary ophthalmology    October 14, 2014   Volume 18, Issue 5 404-408 doi: 10.1111/vop.12229
Lassaline M, Cranford TL, Latimer CA, Bellone RR.To describe the prevalence of LSCC in Haflinger horses and to analyze affected horses' pedigrees investigating the genetic mode of inheritance. Methods: Fifteen horses met inclusion criterion of (i) being of the Haflinger breed, as confirmed by North American Haflinger Registry pedigree and (ii) being diagnosed with LSCC, as confirmed by clinical examination by a veterinary ophthalmologist or by histopathology. Pedigrees could not be obtained for four additional horses diagnosed with LSCC that had been identified as Haflingers. Methods: Retrospective medical record review of all 19 horses was ...
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