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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.
Genetic analyses for conservation of the traditional Tokara horse using 31 microsatellite markers.
Journal of equine science    December 18, 2018   Volume 29, Issue 4 97-104 doi: 10.1294/jes.29.97
Senokuchi A, Ishikawa S, Tozaki T, Takasu M, Kakoi H, Misumi K, Hobo S.In order to promote conservation of the traditional Tokara horse in its remaining three breeding areas in Japan (Nakanoshima, Kaimondake, and Iriki), we genotyped 123 horses using 31 microsatellite markers and determined their genetic diversity. On average, the number of alleles (N), observed heterozygosity (H), expected heterozygosity (H), and inbreeding coefficient (F) among all horses were 3.0, 0.424, 0.481, and 0.108, respectively. Compared with other endangered horse breeds, we found that, even though the size of the Tokara horse population has recently increased, the N, H, and H of Tokar...
Evaluation of recent changes in genetic variability in Japanese thoroughbred population based on a short tandem repeat parentage panel.
Animal science journal = Nihon chikusan Gakkaiho    December 16, 2018   Volume 90, Issue 2 151-157 doi: 10.1111/asj.13143
Kakoi H, Kikuchi M, Tozaki T, Hirota KI, Nagata SI.The integrity of thoroughbreds is maintained under strict regulation involving DNA parentage testing, which is robust in a population with high genetic variability. The genetic variability of the thoroughbred population is possibly fluctuating because of selective breeding that has focused on adaptations for racing performance. To monitor genetic variability within the population and the effectiveness of short tandem repeat (STR) parentage testing, we investigated allele frequencies and the exclusion probability (PE) of 16-17 loci of a parentage panel in the Japanese thoroughbred population ov...
Genetic variability of Akhal-Teke horses bred in Italy.
PeerJ    September 6, 2018   Volume 6 e4889 doi: 10.7717/peerj.4889
Cozzi MC, Strillacci MG, Valiati P, Rogliano E, Bagnato A, Longeri M.The Akhal-Teke horse (AKH) is native of the modern Turkmenistan area. It was introduced in Italy from 1991 to 2000 mainly as an endurance horse. This paper characterizes the genetic variability of the whole Italian AKH horse population and evaluates their inbreeding level by analyzing microsatellite markers and mitochondrial D-Loop sequences. Methods: Seventeen microsatellite marker loci were genotyped on 95 DNA samples from almost all the AKH horses bred in Italy in the last 20 years. Standard genetic variability measures (Ho, He, FIS) were compared against the same variables published on oth...
Exploring genetic diversity in an Italian horse native breed to develop strategies for preservation and management.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    August 22, 2018   Volume 135, Issue 6 450-459 doi: 10.1111/jbg.12357
Ablondi M, Vasini M, Beretti V, Superchi P, Sabbioni A.Genetic diversity is a key factor for both adaptation and response to selection. The loss of genetic diversity causes a decrease in individual fitness, and it has a dramatically negative effect on population lifespan in the long term. This study aimed at exploring the genetic diversity at pedigree level of the Bardigiano horse breed, which is a native breed from Italy shaped for living in rural areas. In 1977, the Bardigiano studbook was founded to preserve the breed and for improving its use for riding and draft purposes. Pedigree data contained 9,469 horses, of which 3,416 were alive. Demog...
Genome-wide analyses of the Jeju, Thoroughbred, and Jeju crossbred horse populations using the high density SNP array.
Genes & genomics    August 11, 2018   Volume 40, Issue 11 1249-1258 doi: 10.1007/s13258-018-0722-0
Kim NY, Seong HS, Kim DC, Park NG, Yang BC, Son JK, Shin SM, Woo JH, Shin MC, Yoo JH, Choi JW.The Jeju horse is an indigenous Korean horse breed that is currently registered with the Food and Agriculture Organization of the United Nations. However, there is severe lack of genomic studies on Jeju horse. This study was conducted to investigate genetic characteristics of horses including Jeju horse, Thoroughbred and Jeju crossbred (Jeju × Thoroughbred) populations. We compared the genomes of three horse populations using the Equine SNP70 Beadchip array. Short-range Linkage disequilibrium was the highest in Thoroughbred, whereas r values were lowest in Jeju horse. Expected heterozygos...
Genetic structure and connectivity analysis in a large domestic livestock meta-population: The case of the Pura Raza Español horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    July 24, 2018   Volume 135, Issue 6 460-471 doi: 10.1111/jbg.12352
Solé M, Valera M, Fernández J.The Pura Raza Español (PRE) is an autochthonous Spanish horse population distributed in 65 countries and managed by a single association. Since 1960s, breeding animals have been steadily exported to other countries to establish local subpopulations. We analysed the genetic structure of a PRE horse meta-population (MP) of 215,500 animals from countries with at least 80 active animals (27 countries comprising 77% of the total animals in the complete pedigree). Genotypes from active animals (59% of the total animals in the complete pedigree) were also studied. Genetic analysis of the MP was perf...
Genetic diversity and population structure of three traditional horse breeds of Bhutan based on 29 DNA microsatellite markers.
PloS one    June 27, 2018   Volume 13, Issue 6 e0199376 doi: 10.1371/journal.pone.0199376
Dorji J, Tamang S, Tshewang T, Dorji T, Dorji TY.The genetic variability and population structure of three Bhutanese traditional horse breeds were assessed through genotyping of 74 horses (Boeta 25, Sharta 14 and Yuta 35) for 29 microsatellite DNA loci. Altogether, 282 alleles were detected across 29 polymorphic loci. The allelic diversity (NE) (Boeta 4.94; Sharta 4.65; Yuta 5.30) and gene diversities (HE) (Boeta 0.78; Sharta 0.77; Yuta 0.79) were high. None of the breeds deviated significantly from the Hardy-Weinberg equilibrium. There was no sign of significant population bottleneck for all the breeds. The inbreeding estimates (FIS) of the...
Analysis of founders and performance test effects on an autochthonous horse population through pedigree analysis: structure, genetic variability and inbreeding.
Animal : an international journal of animal bioscience    May 29, 2018   Volume 13, Issue 1 15-24 doi: 10.1017/S1751731118001180
Giontella A, Pieramati C, Silvestrelli M, Sarti FM.The Maremmano is an autochthonous Italian horse breed, which probably descended from the native horses of the Etruscans (VI century B.C.); the Studbook was acknowledged in 1980, and it includes 12 368 horses born from that year up to 2015. The aim of this study was to evaluate the effect of the selection program on the genetic variability of the Maremmano population; the analysis was performed using both the 'Endog v 4.8' program available at http://webs.ucm.es/info/prodanim/html/JP_Web.htm and in-house software on official pedigree data. Four Reference Populations were considered, and the mos...
Elevated urinary excretion of free pyridinoline in Friesian horses suggests a breed-specific increase in collagen degradation.
BMC veterinary research    April 25, 2018   Volume 14, Issue 1 139 doi: 10.1186/s12917-018-1454-8
Saey V, Tang J, Ducatelle R, Croubels S, De Baere S, Schauvliege S, van Loon G, Chiers K.Friesian horses are known for their high inbreeding rate resulting in several genetic diseases such as hydrocephaly and dwarfism. This last decade, several studies focused on two other presumed hereditary traits in Friesian horses: megaoesophagus and aortic rupture. The pathogenesis of these diseases remains obscure but an important role of collagen has been hypothesized. The purpose of this study was to examine possible breed-related differences in collagen catabolism. Urinary specimens from Friesian (n = 17, median age 10 years old) and Warmblood horses (n = 17, median age 10 years...
Founder-specific inbreeding depression affects racing performance in Thoroughbred horses.
Scientific reports    April 18, 2018   Volume 8, Issue 1 6167 doi: 10.1038/s41598-018-24663-x
Todd ET, Ho SYW, Thomson PC, Ang RA, Velie BD, Hamilton NA.The Thoroughbred horse has played an important role in both sporting and economic aspects of society since the establishment of the breed in the 1700s. The extensive pedigree and phenotypic information available for the Thoroughbred horse population provides a unique opportunity to examine the effects of 300 years of selective breeding on genetic load. By analysing the relationship between inbreeding and racing performance of 135,572 individuals, we found that selective breeding has not efficiently alleviated the Australian Thoroughbred population of its genetic load. However, we found evidenc...
Pedigree analysis and inbreeding effects over morphological traits in Campolina horse population.
Animal : an international journal of animal bioscience    February 22, 2018   1-10 doi: 10.1017/S175173111800023X
Bussiman FO, Perez BC, Ventura RV, Peixoto MGCD, Curi RA, Balieiro JCC.Genetic improvement, without control of inbreeding, can go to loss of genetic variability, reducing the potential for genetic gains in the domestic populations. The aim of this study was to analyze the population structure and the inbreeding depression in Campolina horses. Phenotype information from 43 465 individuals was analyzed, data provided by the Campolina Breeders Association. A pedigree file containing 107 951 horses was used to connected the phenotyped individuals. The inbreeding coefficient was performed by use of the diagonal of the relationship matrix and the genealogical parameter...
Determinants of gestation length in Thoroughbred mares on German stud farms.
Animal reproduction science    February 7, 2018   Volume 191 22-33 doi: 10.1016/j.anireprosci.2018.02.001
Ewert M, Lüders I, Böröcz J, Uphaus H, Distl O, Sieme H.The aim of the present study was to analyze the effects of stallion and mare, their ages, and maternal lineage on the gestation length (GL) in Thoroughbreds. In addition, additive genetic effects of the dam, stallion and fetus were analyzed. Data were taken from 1993 through 2009, and included 16,226 pregnancies from 5959 Th oroughbred mares mated with 290 different stallions. All analyses were performed using linear mixed models. The GL ranged from 306 to 390 days, with a mean length of 347.0 ± 14.4 days. Mating of mares with stallions aged 17 years and older resulted in a significantly ...
Genetic analysis of maternal and paternal lineages in Kabardian horses by uniparental molecular markers.
Open veterinary journal    February 2, 2018   Volume 8, Issue 1 40-46 doi: 10.4314/ovj.v8i1.7
Khaudov AD, Duduev AS, Kokov ZA, Amshokov KK, Zhekamukhov MK, Zaitsev AM, Reissmann M.Studies of mitochondrial DNA (mtDNA) as well as the non-recombining part of the Y chromosome help to understand the origin and distribution of maternal and paternal lineages. The Kabardian horse from Northern Caucasia which is well-known for strength, stamina and endurance in distance riding has a large gap in its breeding documentation especially in the recent past. A 309 bp fragment of the mitochondrial D-loop (156 Kabardian horses) and six mutations in Y chromosome (49 Kabardian stallions), respectively, were analyzed to get a better insight into breeding history, phylogenetic relationship ...
Genetic analysis of the Hungarian draft horse population using partial mitochondrial DNA D-loop sequencing.
PeerJ    January 31, 2018   Volume 6 e4198 doi: 10.7717/peerj.4198
Csizmár N, Mihók S, Jávor A, Kusza S.The Hungarian draft is a horse breed with a recent mixed ancestry created in the 1920s by crossing local mares with draught horses imported from France and Belgium. The interest in its conservation and characterization has increased over the last few years. The aim of this work is to contribute to the characterization of the endangered Hungarian heavy draft horse populations in order to obtain useful information to implement conservation strategies for these genetic stocks. Methods: To genetically characterize the breed and to set up the basis for a conservation program, in the present study a...
Genetic monitoring of horses in the Czech Republic: A large-scale study with a focus on the Czech autochthonous breeds.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    January 19, 2018   Volume 135, Issue 1 73-83 doi: 10.1111/jbg.12313
Putnová L, Štohl R, Vrtková I.We propose the first comprehensive in-depth study monitoring horses in the Czech Republic. We scanned 9,289 animals from 44 populations for 17 equine STRs. Other equids analysed involved Equus przewalskii and Equus asinus. The total of 228 different alleles were detected, with the mean number of 13.4 per locus. The highest allelic richness (AR) was found in the Welsh Part Bred (6.01), followed by the Camargue (5.93) and Czech Sport Pony (5.91), whereas the Friesian exhibited the lowest AR (3.06). Interpopulation differences explained approximately nine per cent of the total genetic diversity. ...
Population Networks Associated with Runs of Homozygosity Reveal New Insights into the Breeding History of the Haflinger Horse.
The Journal of heredity    January 3, 2018   Volume 109, Issue 4 384-392 doi: 10.1093/jhered/esx114
Druml T, Neuditschko M, Grilz-Seger G, Horna M, Ricard A, Mesaric M, Cotman M, Pausch H, Brem G.Within the scope of current genetic diversity analyses, population structure and homozygosity measures are independently analyzed and interpreted. To enhance analytical power, we combined the visualization of recently described high-resolution population networks with runs of homozygosity (ROH). In this study, we demonstrate that this approach enabled us to reveal important aspects of the breeding history of the Haflinger horse. We collected high-density genotype information of 531 horses originating from 7 populations which were involved in the formation of the Haflinger, namely 32 Italian Ha...
Assessment of genomic inbreeding in Polish Konik horses.
Polish journal of veterinary sciences    November 23, 2017   Volume 20, Issue 3 603-605 doi: 10.1515/pjvs-2017-0074
Kamiński S, Hering DM, Jaworski Z, Zabolewicz T, Ruść A.The aim of this study was to assess the inbreeding coefficient of Polish Konik horses based on runs of homozygosity (ROH). Ninety six horses kept in 6 herds located across Poland were genotyped with the use of EquineSNP60 BeadChip (Illumina). SNP markers with a Minor Allele Frequency lower than 0.01 and SNPs assigned to chromosome X or Y were excluded from the study. A total of 50 708 SNPs were included for statistical analysis (SVS software, Golden Helix). The analysis showed that the population is in genetic equilibrium, with He and Ho estimates both equal to 0.3086. Seven categories of Runs...
Effects of inbreeding and other systematic effects on fertility of Black Forest Draught horses in Germany.
Acta veterinaria Scandinavica    October 18, 2017   Volume 59, Issue 1 70 doi: 10.1186/s13028-017-0338-4
Müller-Unterberg M, Wallmann S, Distl O.The Black Forest Draught horse (BFDH) is an endangered German coldblood breed with its origin in the area of the Black Forest in South Germany. In this retrospective study, the influence of the inbreeding coefficient on foaling rates was investigated using records from ten breeding seasons. Due to the small population size of BFDH, the level of inbreeding is increasing and may have an effect on foaling rates.The data of the present study included all coverings reported for 1024 BFDH mares in the years 2001-2009. These mares were covered by 32 BFDH stallions from the State Stud Marbach. Data fr...
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...
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...
Ancient genomic changes associated with domestication of the horse.
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 ...
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...
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...
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
BMC genomics    October 28, 2016   Volume 17, Issue 1 839 doi: 10.1186/s12864-016-3186-0
Leegwater PA, Vos-Loohuis M, Ducro BJ, Boegheim IJ, van Steenbeek FG, Nijman IJ, Monroe GR, Bastiaansen JW, Dibbits BW, van de Goor LH, Hellinga I....Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease proce...
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...
Friesian horses as a possible model for human acquired aortopulmonary fistulation.
BMC research notes    August 15, 2016   Volume 9, Issue 1 405 doi: 10.1186/s13104-016-2201-5
Saey V, Vandecasteele T, van Loon G, Cornillie P, Ploeg M, Delesalle C, Gröne A, Gielen I, Ducatelle R, Chiers K.Acquired aortopulmonary fistulation is a rare condition in humans. It usually results as a late complication of a true or pseudoaneurysm of the thoracic aorta. It is most commonly associated with trauma or surgery, less commonly with atherosclerosis, inflammation, hypertension or Marfan's syndrome. Aortopulmonary fistulation is also seen as a rare complication of acute aortic dissection. On rare occasions, acquired aortopulmonary fistulation is reported in aged patients without any of the above mentioned triggering factors. Thus, these cases should be considered as idiopathic aortopulmonary fi...
Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.
Animal genetics    August 1, 2016   Volume 48, Issue 1 108-112 doi: 10.1111/age.12481
Druml T, Grilz-Seger G, Neuditschko M, Brem G.The aim of this study was to determine the allele frequency of the glycogen synthase 1 (GYS1) mutation associated with polysaccharide storage myopathy type 1 in the Austrian Noriker horse. Furthermore, we examined the influence of population substructures on the allele distribution. The study was based upon a comprehensive population sample (208 breeding stallions and 309 mares) and a complete cohort of unselected offspring from the year 2014 (1553 foals). The mean proportion of GYS1 carrier animals in the foal cohort was 33%, ranging from 15% to 50% according to population substructures based...
Effective population sizes in cattle, sheep, horses, pigs and goats estimated from census and herdbook data.
Animal : an international journal of animal bioscience    May 10, 2016   Volume 10, Issue 11 1778-1785 doi: 10.1017/S1751731116000914
Hall SJ.Accurate measures of effective population sizes (Ne ) in livestock require good quality data and specialized skills for their computation and analysis. Ne can be estimated by Wright's equation Ne =4MF/(M+ F) (M, F being sires and dams, respectively), but this requires assumptions which are often not met. Total census sizes Nc of livestock breeds are collated globally. This paper investigates whether estimates of Ne can be made from Nc ; this would facilitate conservation monitoring. Some Ne methodologies avoid the assumptions of Wright's equation and permit measurement, rather than estimation,...
Genetic relationship between the Nordestino horse and national and international horse breeds.
Genetics and molecular research : GMR    April 26, 2016   Volume 15, Issue 2 doi: 10.4238/gmr.15027881
Pires DA, Coelho EG, Melo JB, Oliveira DA, Ribeiro MN, Gus Cothran E, Juras R.Knowledge of genetic diversity and relationships between breeds is very important for conservation programs. Hair samples were collected from 393 individual Nordestino horses and genotyped using 14 microsatellite markers in order to investigate the genetic relationship between this breed and 66 international horse breeds. There was high allelic diversity and inbreeding coefficient within population values were not significant, which was probably due to crossbreeding. Despite the Nordestino horse population being in Hardy-Weinberg equilibrium, a global deficit of heterozygotes was observed. Thi...
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