Variation in TBX3 Gene Region in Dun Coat Color Polish Konik Horses

Stefaniuk‐Szmukier, Monika; Ropka‐Molik, Katarzyna; Piórkowska, Katarzyna; Szmatoła, Tomasz; Długosz, Bogusława; Pisarczyk, Weronika; Bugno‐Poniewierska, Monika

doi:10.1016/j.jevs.2016.10.003

Cited by 12 publications

(7 citation statements)

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“…Another locus which was analyzed in details was a genome region on ECA8 spanning TBX3 gene. Previous studies showed that the dun phenotype (which is characteristic for the studied Polish Konik horse) is related to mutations occurring in TBX3 gene [21,27]. The analysis of diversifying selection signatures characteristic for individual breeds performed in this study showed that the strongest selection signal found in the Polish Konik directly overlapped with this locus (ECA8: 17.9–18.6 Mb).…”

Section: Resultsmentioning

confidence: 50%

A genome-wide scan for diversifying selection signatures in selected horse breeds

et al. 2019

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The genetic differentiation of the current horse population was evolutionarily created by natural or artificial selection which shaped the genomes of individual breeds in several unique ways. The availability of high throughput genotyping methods created the opportunity to study this genetic variation on a genome-wide level allowing detection of genome regions divergently selected between separate breeds as well as among different horse types sharing similar phenotypic features. In this study, we used the population differentiation index (FST) that is generally used for measuring locus-specific allele frequencies variation between populations, to detect selection signatures among six horse breeds maintained in Poland. These breeds can be classified into three major categories, including light, draft and primitive horses, selected mainly in terms of type (utility), exterior, performance, size, coat color and appearance. The analysis of the most pronounced selection signals found in this study allowed us to detect several genomic regions and genes connected with processes potentially important for breed phenotypic differentiation and associated with energy homeostasis during physical effort, heart functioning, fertility, disease resistance and motor coordination. Our results also confirmed previously described association of loci on ECA3 (spanning LCORL and NCAPG genes) and ECA11 (spanning LASP1 gene) with the regulation of body size in our draft and primitive (small size) horses. The efficiency of the applied FST-based approach was also confirmed by the identification of a robust selection signal in the blue dun colored Polish Konik horses at the locus of TBX3 gene, which was previously shown to be responsible for dun coat color dilution in other horse breeds. FST-based method showed to be efficient in detection of diversifying selection signatures in the analyzed horse breeds. Especially pronounced signals were observed at the loci responsible for fixed breed-specific features. Several candidate genes under selection were proposed in this study for traits selected in separate breeds and horse types, however, further functional and comparative studies are needed to confirm and explain their effect on the observed genetic diversity of the horse breeds.

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Section: Resultsmentioning

confidence: 50%

A genome-wide scan for diversifying selection signatures in selected horse breeds

et al. 2019

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“…There is a hypothesis that the Polish Konik horse exhibits the external features of the extinct Tarpan (Equus ferus ferus) and there is some evidence that Tarpans were crossbred with local primitive domestic horses [2]. Besides wild-type mouse-colored coats being a good adaptation to life in forest conditions [3], Polish Konik horses (Figure 1) present a characteristic primitive coat color-a Dun type with a predominant black Grullo color [4]. The name "Polish Konik" was introduced by Professor Tadeusz Vetulani in 1925, and to date "Polish Konik Horse" is the nomenclature recommended by the Polish Horse Breeders Association.…”

Section: Introductionmentioning

confidence: 99%

Genetic Diversity and Population Structure of Polish Konik Horse Based on Individuals from All the Male Founder Lines and Microsatellite Markers

Fornal

Katarzyna

Ząbek

et al. 2020

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The Polish Konik horse is a primitive native breed included in the genetic resource conservation program in Poland. After World War II, intensive breeding work began, aimed at rebuilding this breed. Now, the whole Polish Konik population is represented by six male founder lines (Wicek, Myszak, Glejt I, Goraj, Chochlik and Liliput). Individuals representing all six paternal lineages were selected based on their breeding documentation. We performed a fragment analysis with 17 microsatellite markers (STRs) recommended by the International Society for Animal Genetics (ISAG). The genetic diversity and structure within the paternal lineages and the whole of the studied group were investigated. The average allelic richness was 6.497 for the whole studied group. The fixation index (FST; measure of population differentiation) was low (about 3%), the mean inbreeding coefficient (FIT) was low and close to 0, and the mean inbreeding index value (FIS) was negative. The mean expected heterozygosity was established at 0.7046 and was lower than the observed heterozygosity. The power of discrimination and power of exclusion were 99.9999%. The cumulative parentage exclusion probability equaled 99.9269% when one parental genotype was known and 99.9996% with both parents’ genotypic information was available. About 3% of the genetic variation was caused by differences in the breed origin and about 97% was attributed to differences among individuals. Our analysis revealed that there has been no inbreeding in the Polish Konik breed for the studied population. The genetic diversity was high, and its parameters were similar to those calculated for native breeds from other countries reported in the literature. However, due to the small number of breed founders and paternal lineages with unknown representation, the population’s genetic diversity and structure should be monitored regularly.

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“…The dun mutation causes radially asymmetric expression of the transcription factor TBX3 in hair follicles, leading to a circumferential distribution of melanocytes in the individual hairs. Polish Konik horses have been reported to carry two new variants in this locus [18] .…”

Section: Coat Color Variationmentioning

confidence: 99%

Genomic regions under selection for important traits in domestic horse breeds

Liu¹,

Ma²,

Jiang³

2017

Front. Agr. Sci. Eng.

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Horses were domesticated 5500 years ago, thousands of years later than other domestic animals; however, in this relatively short period, domestic horses have had a great impact on human history by accelerating civilization, revolutionizing warfare and advancing agricultural production. Modern breeding using markerassisted selection has greatly accelerated breeding progress. Therefore, identification of genetic markers underlying the traits of interest in domestic horses is the basis for the modern breeding system. In this review, we present an overview of genetic mapping studies and genome wide analyses to identify the genomic regions targeted by positive selection for four important aspects of horses, coat color, racing performance, gait and height at withers. The MC1R locus, for example, has been shown to be the main gene responsible for chestnut color, and the MSTN locus has been shown to control the muscle fiber growth in racing breeds. The missense mutation in DMRT3 is the causal mutation for the alternate gaits in horses. Height at withers, a quantitative trait, was mapped to four major loci (3:105547002, 6:81481064, 9:75550059 and 11:232597 32) that can explain 83% of the height variations in domestic horses.

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Variation in TBX3 Gene Region in Dun Coat Color Polish Konik Horses

Cited by 12 publications

References 9 publications

A genome-wide scan for diversifying selection signatures in selected horse breeds

A genome-wide scan for diversifying selection signatures in selected horse breeds

Genetic Diversity and Population Structure of Polish Konik Horse Based on Individuals from All the Male Founder Lines and Microsatellite Markers

Genomic regions under selection for important traits in domestic horse breeds

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