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Topic:Inbreeding

Inbreeding in horses refers to the mating of individuals that are closely related genetically, resulting in offspring with a higher degree of genetic similarity. This practice can lead to an increased risk of homozygosity for deleterious alleles, which may affect health, performance, and reproductive traits. Inbreeding is often measured by the inbreeding coefficient, which quantifies the probability that two alleles at a locus are identical by descent. While inbreeding can consolidate desirable traits within a breed, it may also reduce genetic diversity and increase the likelihood of inherited disorders. This page compiles peer-reviewed research studies and scholarly articles that explore the genetic, physiological, and health implications of inbreeding in equine populations.
Fertility Assessment in Sorraia Stallions by Sperm-Fish and Fkbp6 Genotyping.
Reproduction in domestic animals = Zuchthygiene    March 28, 2016   Volume 51, Issue 3 351-359 doi: 10.1111/rda.12686
Kjöllerström HJ, do Mar Oom M, Chowdhary BP, Raudsepp T.The Sorraia, a critically endangered indigenous Iberian horse breed, is characterized by low genetic variability, high rate of inbreeding, bad sperm quality and subfertility. Here, we studied 11 phenotypically normal but subfertile Sorraia stallions by karyotyping, sex chromosome sperm-FISH and molecular analysis of FKBP6 - a susceptibility locus for impaired acrosome reaction (IAR). The stallions had normal sperm concentration (>300 million cells/ml), but the numbers of progressively motile sperm (21%) and morphologically normal sperm (28%) were invariably low. All stallions had a normal 6...
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...
Assessment of demographic bottleneck in Indian horse and endangered pony breeds.
Journal of genetics    November 6, 2015   Volume 94, Issue 4 e56-e62 doi: 10.1007/s12041-015-0570-5
Gupta AK, Chauhan M, Bhardwaj A, Vijh RK.No abstract available
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
BMC genomics    October 9, 2015   Volume 16 761 doi: 10.1186/s12864-015-1936-z
Ducro BJ, Schurink A, Bastiaansen JW, Boegheim IJ, van Steenbeek FG, Vos-Loohuis M, Nijman IJ, Monroe GR, Hellinga I, Dibbits BW, Back W, Leegwater PA.Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation. Results: A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement o...
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses.
BMC genomics    October 9, 2015   Volume 16 764 doi: 10.1186/s12864-015-1977-3
Metzger J, Karwath M, Tonda R, Beltran S, Águeda L, Gut M, Gut IG, Distl O.Modern horses represent heterogeneous populations specifically selected for appearance and performance. Genomic regions under high selective pressure show characteristic runs of homozygosity (ROH) which represent a low genetic diversity. This study aims at detecting the number and functional distribution of ROHs in different horse populations using next generation sequencing data. Methods: Next generation sequencing was performed for two Sorraia, one Dülmen Horse, one Arabian, one Saxon-Thuringian Heavy Warmblood, one Thoroughbred and four Hanoverian. After quality control reads were mapped t...
Evolutionary Genomics and Conservation of the Endangered Przewalski’s Horse.
Current biology : CB    September 24, 2015   Volume 25, Issue 19 2577-2583 doi: 10.1016/j.cub.2015.08.032
Przewalski's horses (PHs, Equus ferus ssp. przewalskii) were discovered in the Asian steppes in the 1870s and represent the last remaining true wild horses. PHs became extinct in the wild in the 1960s but survived in captivity, thanks to major conservation efforts. The current population is still endangered, with just 2,109 individuals, one-quarter of which are in Chinese and Mongolian reintroduction reserves [1]. These horses descend from a founding population of 12 wild-caught PHs and possibly up to four domesticated individuals [2-4]. With a stocky build, an erect mane, and stripped and sho...
Small Ne of the Isolated and Unmanaged Horse Population on Sable Island.
The Journal of heredity    July 13, 2015   Volume 106, Issue 5 660-665 doi: 10.1093/jhered/esv051
Uzans AJ, Lucas Z, McLeod BA, Frasier TR.For small, isolated populations 2 common conservation concerns relate to genetic threats: inbreeding and negative consequences associated with loss of genetic diversity due to drift. Mitigating these threats often involves conservation actions that can be controversial, such as translocations or captive breeding programs. Although such actions have been successful in some situations, in others they have had undesirable outcomes. Here, we estimated the effective population size (N e ) of the Sable Island horses to assess the risk to this population of these genetic threats. We found surprising ...
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...
Application of the ASVCP guidelines for the establishment of haematologic and biochemical reference intervals in Icelandic horses in Austria.
Acta veterinaria Scandinavica    June 14, 2015   Volume 57, Issue 1 30 doi: 10.1186/s13028-015-0120-4
Leidinger EF, Leidinger J, Figl J, Rumpler B, Schwendenwein I.Despite the increasing popularity of Icelandic horses, published reference intervals (RIs) in this breed are rare. Due to their isolation and their small gene pool, alterations in some variables are likely and some possible breed-specific peculiarities have been described. The purpose of the present study was the establishment of comprehensive RIs in Icelandic horses according to recently published guidelines. In a prospective observational study, blood samples were collected from the jugular vein of 142 Icelandic horses into EDTA and serum tubes. Reference intervals were established for haema...
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...
Prehistoric genomes reveal the genetic foundation and cost of horse domestication.
Proceedings of the National Academy of Sciences of the United States of America    December 15, 2014   Volume 111, Issue 52 E5661-E5669 doi: 10.1073/pnas.1416991111
Schubert M, Jónsson H, Chang D, Der Sarkissian C, Ermini L, Ginolhac A, Albrechtsen A, Dupanloup I, Foucal A, Petersen B, Fumagalli M, Raghavan M....The domestication of the horse ∼ 5.5 kya and the emergence of mounted riding, chariotry, and cavalry dramatically transformed human civilization. However, the genetics underlying horse domestication are difficult to reconstruct, given the near extinction of wild horses. We therefore sequenced two ancient horse genomes from Taymyr, Russia (at 7.4- and 24.3-fold coverage), both predating the earliest archeological evidence of domestication. We compared these genomes with genomes of domesticated horses and the wild Przewalski's horse and found genetic structure within Eurasia in the Late Pleist...
The legend of the Canadian horse: genetic diversity and breed origin.
The Journal of heredity    November 25, 2014   Volume 106, Issue 1 37-44 doi: 10.1093/jhered/esu074
Khanshour A, Juras R, Blackburn R, Cothran EG.The Canadian breed of horse invokes a fascinating chapter of North American history and as such it is now a heritage breed and the national horse of Canada. The aims of this study were to determine the level of genetic diversity in the Canadian, investigate the possible foundation breeds and the role it had in the development of the US horse breeds, such as Morgan Horse. We tested a total of 981 horses by using 15 microsatellite markers. We found that Canadian horses have high values of genetic diversity indices and show no evidence of a serious loss of genetic diversity and the inbreeding coe...
Breed predisposition and heritability of atrial fibrillation in the Standardbred horse: a retrospective case-control study.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology    May 19, 2014   Volume 16, Issue 3 173-184 doi: 10.1016/j.jvc.2014.03.006
Physick-Sheard P, Kraus M, Basrur P, McGurrin K, Kenney D, Schenkel F.To assess evidence for genetic contributions to atrial fibrillation (AF) in the Standardbred horse. Methods: Equine referrals to the Ontario Veterinary College Health Sciences Centre (OVCHSC) for 1985-2009, and age and gait matched breed registry controls. Methods: Breeds presenting ≥ 5 times annually were tabulated (admission year and diagnosis; total 40,039; AF 396; no AF 39,643), and breed and year effects examined. Heritability and inbreeding coefficients were determined for Standardbred AF cases and racing contemporaries, and odds ratios for AF were calculated for frequently occurring s...
Genetic diversity and bottleneck studies in endangered Bhutia and Manipuri pony breeds.
Molecular biology reports    October 23, 2013   Volume 40, Issue 12 6935-6943 doi: 10.1007/s11033-013-2813-y
Gupta AK, Chauhan M, Bhardwaj A.For studying the genetic diversity and bottleneck problem in Bhutia and Manipuri pony breeds of India, we analysed DNA samples of 34 Bhutia and 50 Manipuri, true to breed, ponies using 47 polymorphic microsatellite markers. All the microsatellites were observed to be highly polymorphic in nature in both Bhutia and Manipuri breeds with mean no. of alleles as 8.702 ± 0.0493 and 8.416 ± 0.0548 respectively. Genetic diversity values in terms of heterozygosity values within individual breeds were also high with very low inbreeding (Fis 0.102 and 0.055 in Bhutia and Manipuri ponies, respective...
Mitochondrial and pedigree analysis in Przewalski’s horse populations: implications for genetic management and reintroductions.
Mitochondrial DNA    July 1, 2013   Volume 25, Issue 4 313-318 doi: 10.3109/19401736.2013.800487
Liu G, Xu CQ, Cao Q, Zimmermann W, Songer M, Zhao SS, Li K, Hu DF.Przewalski's horses have been imported from the western zoos to China since 1985. Yet the genetic diversity in China's populations has not been studied, thus lacking of such knowledge inevitably affects this population's management. The aim of this study was to assess genetic diversity in Chinese population of Przewalski's horses via mitochondrial DNA (mtDNA) control region and pedigree analysis. Methods: Two captive and one reintroduced populations were examined based on mitochondrial DNA control region variation via fecal sampling from 2010 to 2012, together with pedigree analysis. Results: ...
Genetic diversity and conservation in a small endangered horse population.
Journal of applied genetics    May 7, 2013   Volume 54, Issue 3 285-292 doi: 10.1007/s13353-013-0151-3
Janova E, Futas J, Klumplerova M, Putnova L, Vrtkova I, Vyskocil M, Frolkova P, Horin P.The Old Kladruber horses arose in the 17th century as a breed used for ceremonial purposes. Currently, grey and black coat colour varieties exist as two sub-populations with different recent breeding history. As the population underwent historical bottlenecks and intensive inbreeding, loss of genetic variation is considered as the major threat. Therefore, genetic diversity in neutral and non-neutral molecular markers was examined in the current nucleus population. Fifty microsatellites, 13 single nucleotide polymorphisms (SNPs) in immunity-related genes, three mutations in coat colour genes an...
Genetic structure and gene flows within horses: a genealogical study at the french population scale.
PloS one    April 22, 2013   Volume 8, Issue 4 e61544 doi: 10.1371/journal.pone.0061544
Pirault P, Danvy S, Verrier E, Leroy G.Since horse breeds constitute populations submitted to variable and multiple outcrossing events, we analyzed the genetic structure and gene flows considering horses raised in France. We used genealogical data, with a reference population of 547,620 horses born in France between 2002 and 2011, grouped according to 55 breed origins. On average, individuals had 6.3 equivalent generations known. Considering different population levels, fixation index decreased from an overall species FIT of 1.37%, to an average [Formula: see text] of -0.07% when considering the 55 origins, showing that most horse ...
Methods to estimate effective population size using pedigree data: Examples in dog, sheep, cattle and horse.
Genetics, selection, evolution : GSE    January 2, 2013   Volume 45, Issue 1 1 doi: 10.1186/1297-9686-45-1
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 ...
Implementation of Optimum Contributions selection in endangered local breeds: the case of the Menorca Horse population.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    December 27, 2012   Volume 130, Issue 3 218-226 doi: 10.1111/jbg.12023
Solé M, Valera M, Gómez MD, Cervantes I, Fernández J.Limiting the inbreeding rate (∆F) while maximizing genetic gain for any trait of economic interest is especially important in small populations of local breeds, like the Menorca Horse. In this breed, dressage performance is important for the profitability of the breed and should be accounted in the selection criterion. The aim of this study was to assess if a breeding programme aiming at improved dressage performance is feasible in such a small breed. To perform the analysis, animals that were currently available for breeding (between 3 and 20 years) were used. Selection was based on the es...
Explaining spatial heterogeneity in population dynamics and genetics from spatial variation in resources for a large herbivore.
PloS one    October 31, 2012   Volume 7, Issue 10 e47858 doi: 10.1371/journal.pone.0047858
Contasti AL, Tissier EJ, Johnstone JF, McLoughlin PD.Fine-scale spatial variation in genetic relatedness and inbreeding occur across continuous distributions of several populations of vertebrates; however, the basis of observed variation is often left untested. Here we test the hypothesis that prior observations of spatial patterns in genetics for an island population of feral horses (Sable Island, Canada) were the result of spatial variation in population dynamics, itself based in spatial heterogeneity in underlying habitat quality. In order to assess how genetic and population structuring related to habitat, we used hierarchical cluster analys...
Ophthalmological findings in a closed herd of Lipizzaners.
Equine veterinary journal    September 26, 2012   Volume 45, Issue 2 209-213 doi: 10.1111/j.2042-3306.2012.00630.x
Rushton J, Tichy A, Brem G, Druml T, Nell B.There are no studies on the ophthalmic health status in the Lipizzaner breed. Objective: To perform an ophthalmological survey in a closed herd in 3 housing systems. Methods: All horses at the Federal Stud Piber, Heldenberg and the Spanish Riding School Vienna were subjected to ophthalmological examination. Findings were documented and correlated with factors such as age, gender, location and housing situation. The interrelation of abnormalities of different regions was determined by calculating accuracy. Pedigree analysis of horses affected by cataract was performed. Results: A total of 267 h...
Optimal contribution selection applied to the Norwegian and the North-Swedish cold-blooded trotter – a feasibility study.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    May 12, 2012   Volume 130, Issue 3 170-177 doi: 10.1111/j.1439-0388.2012.01005.x
Olsen HF, Meuwissen T, Klemetsdal G.The aim of this study was to examine how to apply optimal contribution selection (OCS) in the Norwegian and the North-Swedish cold-blooded trotter and give practical recommendations for the future. OCS was implemented using the software Gencont with overlapping generations and selected a few, but young sires, as these turn over the generations faster and thus is less related to the mare candidates. In addition, a number of Swedish sires were selected as they were less related to the selection candidates. We concluded that implementing OCS is feasible to select sires (there is no selection on m...
Genetic variability in local Brazilian horse lines using microsatellite markers.
Genetics and molecular research : GMR    April 10, 2012   Volume 11, Issue 2 881-890 doi: 10.4238/2012.April.10.4
Silva AC, Paiva SR, Albuquerque MS, Egito AA, Santos SA, Lima FC, Castro ST, Mariante AS, Correa PS, McManus CM.Genetic variability at 11 microsatellite markers was analyzed in five naturalized/local Brazilian horse breeds or genetic groups. Blood samples were collected from 328 animals of the breeds Campeira (Santa Catarina State), Lavradeira (Roraima State), Pantaneira (Pantanal Mato-Grossense), Mangalarga Marchador (Minas Gerais State), as well as the genetic group Baixadeiro (Maranhão State), and the exotic breeds English Thoroughbred and Arab. We found significant genetic variability within evaluated microsatellite loci, with observed heterozygosis varying between 0.426 and 0.768 and polymorphism ...
Microsatellite markers based genetic diversity and bottleneck studies in Zanskari pony.
Gene    March 13, 2012   Volume 499, Issue 2 357-361 doi: 10.1016/j.gene.2012.03.008
Gupta AK, Chauhan M, Bhardwaj A, Tandon SN.Genetic diversity in Zanskari pony breed was evaluated at 48 microsatellite loci using fifty adult, healthy and unrelated animals. Allele frequency data was used to detect genetic diversity and bottleneck. The estimated average number of alleles (±s.e.) was 8.5208±2.5010 with a total of 409 alleles. A high level of genetic diversity within this breed was observed in terms of number of alleles, observed heterozygosity (0.6763±0.1704), expected Leven's heterozygosity (0.7724±0.795), expected Nei's heterozygosity (0.7644±0.0787) and polymorphism information content (>0.5). In-breeding coe...
Population statistics and biological traits of endangered kiso horse.
Journal of equine science    February 28, 2012   Volume 22, Issue 4 67-72 doi: 10.1294/jes.22.67
Takasu M, Hiramatsu N, Tozaki T, Kakoi H, Hasegawa T, Maeda M, Kusuda S, Doi O, Murase T, Mukoyama H.The objective of this study was to clarify the current status of endangered Kiso horse, population statistics and biological traits, in order to take a step for the conservation by scientific approach. We surveyed 125 Kiso horses (86.2% of the whole breed), analyzed the construction of the population, and calculated the coefficient of inbreeding and effective population size. Moreover, we confirmed coat color variations and the traditional traits of the Kiso horse, and measured their height at the withers and chest circumference to clarify their physical characteristics. The population pyramid...
Abnormal reproductive patterns in Przewalski’s mares are associated with a loss in gene diversity.
Biology of reproduction    February 9, 2012   Volume 86, Issue 2 28 doi: 10.1095/biolreprod.111.092676
Collins CW, Songsasen NS, Vick MM, Wolfe BA, Weiss RB, Keefer CL, Monfort SL.The ex situ population of the Przewalski's horse (Equus ferus przewalskii) is not self-sustaining (20% foaling rate), and the demography is skewed toward aging individuals with low gene diversity. We designed the present study to gain a better understanding of the reproductive biology of the Przewalski's mare and to determine whether age and gene diversity influenced reproductive function. Urine samples were collected 3-7 days/wk from 19 mares from May to September, and ultrasound examinations of follicular structures were performed 3 days/wk for 5 wk from May through July in nine individuals....
A high density SNP array for the domestic horse and extant Perissodactyla: utility for association mapping, genetic diversity, and phylogeny studies.
PLoS genetics    January 12, 2012   Volume 8, Issue 1 e1002451 doi: 10.1371/journal.pgen.1002451
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 ...
Genetic structure and differentiation of the Italian catria horse.
The Journal of heredity    December 14, 2011   Volume 103, Issue 1 134-139 doi: 10.1093/jhered/esr121
Bigi D, Perrotta G.Catria is 1 of the 22 native Italian horse breeds that now survive from a larger number. Thirty individuals, representative of the Catria horse, were analyzed for 11 microsatellites and compared with data of 10 breeds reared in Italy. Three different approaches, genetic distances, correspondence analysis, and clustering methods, were considered to study genetic relationships among Catria and the other horse populations. Genetic differentiation among breeds was highly significant (P < 0.01) for all loci. Average F(ST) values indicate that around 10% of the total genetic variation was explain...
Inbreeding in the Thoroughbred horse.
Animal genetics    November 8, 2011   Volume 43, Issue 3 340-342 doi: 10.1111/j.1365-2052.2011.02259.x
Binns MM, Boehler DA, Bailey E, Lear TL, Cardwell JM, Lambert DH.Changes in the inbreeding coefficient, F, in the Thoroughbred horse over the past 45 years have been investigated by genotyping 467 Thoroughbred horses (born between 1961 and 2006) using the Illumina Equine SNP50 bead chip, which comprises 54,602 SNPs uniformly distributed across the equine genome. The Spearman rank correlation coefficient, r, between the year of birth and F was estimated. The results indicate that inbreeding in Thoroughbreds has increased over the past 40 years, with r = 0.24, P < 0.001 demonstrating that there is a highly significant, though relatively weak correlation be...
Population screening of endangered horse breeds for the foal immunodeficiency syndrome mutation.
The Veterinary record    October 20, 2011   Volume 169, Issue 25 655 doi: 10.1136/vr.100235
Fox-Clipsham LY, Brown EE, Carter SD, Swinburne JE.The Fell and Dales are UK pony breeds that have small populations and may be at risk from in-breeding and inherited diseases. Foal immunodeficiency syndrome (FIS) is a lethal inherited disease caused by the recessive mutation of a single gene, which affects both Fell and Dales ponies and potentially other breeds that have interbred with either of these. FIS, previously known as Fell pony syndrome, is characterised by progressive anaemia and severe B lymphocyte deficiency. The identification of the causal mutation for this disease led to the recent development of a DNA-based carrier test. In th...