Publications by authors named "Thomas Druml"

Article Synopsis
  • Melanoma is highly prevalent in gray horses, with rates exceeding 50%, and genetic predisposition has been linked to a specific duplication in the STX17 gene.
  • A study conducted a genome-wide association analysis on 141 Lipizzan horses, identifying the DPF3 gene on chromosome 24 as a potential factor in melanoma development.
  • Further research involving 1210 horses from multiple breeds suggests that a specific genotype of the DPF3 gene may help suppress melanoma, highlighting its importance for gray horses at risk of developing this condition.
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Article Synopsis
  • - The study focuses on vitiligo-like depigmentation in horses, particularly in gray horses, which shows a much higher prevalence (26-67%) compared to non-gray horses (0.8-3.5%).
  • - Researchers conducted a genome-wide association study (GWAS) using SNP data from 256 horses to identify candidate genes linked to this autoimmune skin disorder, ultimately finding seven potential genes related to immune response and tumor suppression.
  • - The findings suggest a complex relationship between vitiligo and cancer, indicating that certain genes are involved in both conditions, and highlight the need for further studies to explore these connections.
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The roan coat color in horses is characterized by dispersed white hair and dark points. This phenotype segregates in a broad range of horse breeds, while the underlying genetic background is still unknown. Previous studies mapped the roan locus to the KIT gene on equine chromosome 3 (ECA3).

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Intensive artificial and natural selection have shaped substantial variation among European horse breeds. Whereas most equine selection signature studies employ divergent genetic population structures in order to derive specific inter-breed targets of selection, we screened a total of 1476 horses originating from 12 breeds for the loss of genetic diversity by runs of homozygosity (ROH) utilizing a 670,000 single nucleotide polymorphism (SNP) genotyping array. Overlapping homozygous regions (ROH islands) indicating signatures of selection were identified by breed and similarities/dissimilarities between populations were evaluated.

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The evaluation of conformation traits is an important part of selection for breeding stallions and mares. Some of these judged conformation traits involve joint angles that are associated with performance, health, and longevity. To improve our understanding of the genetic background of joint angles in horses, we have objectively measured the angles of the poll, elbow, carpal, fetlock (front and hind), hip, stifle, and hock joints based on one photograph of each of the 300 Franches-Montagnes (FM) and 224 Lipizzan (LIP) horses.

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Article Synopsis
  • The study investigated the population structure and levels of autozygosity in 377 Lipizzan horses from five European stud farms using a high-density genotyping array to identify regions of homozygosity in their genomes.
  • The analysis revealed distinct subpopulations based on geographical origin, with Austrian horses showing the highest levels of homozygosity followed by Croatian, Slovakian, and Hungarian horses.
  • Gene ontology analysis of the identified homozygous regions highlighted processes related to embryonic morphogenesis and included key genes associated with traits like greying in horses.
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Linear description (LD) of conformation traits was introduced in horse breeding to minimise subjectivity in scoring. However, recent studies have shown that LD traits show essentially the same problems as traditionally scored traits, such as data converging around the mean value with very small standard deviations. To improve the assessment of conformation traits of horses, we investigated the application of the recently described horse shape space model based upon 403 digitised photographs of 243 Franches-Montagnes (FM) stallions and extracted joint angles based on specific landmark triplets.

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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.

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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.

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Genetic analyses of coat colors are frequently restricted to subjectively categorized phenotype information. The aim of this study was to develop a method to numerically quantify the variability of leopard complex (LP) spotting phenotypes introducing tools from image analysis. Generalized Procrustes analysis eliminates systematic errors due to imaging process.

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Article Synopsis
  • The Y chromosome in horses reveals limited genetic diversity among males, contrasting with the rich variety found in their mitochondrial DNA.
  • By using advanced sequencing methods, researchers identified the first polymorphic Y-chromosomal markers, showing only six distinct haplotypes (HT) in modern horses, all tracing back to a common ancestor.
  • The influence of popular stallions, particularly the Thoroughbred "Eclipse," has significantly shaped the Y-chromosomal variation in contemporary horse breeds, often leading to the replacement of native Y chromosomes with those of Thoroughbreds.
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The dominant phenotype of greying with age in horses, caused by a 4.6-kb duplication in intron 6 of STX17, is associated with a high incidence of melanoma and vitiligo-like skin depigmentation. However, the progressive greying and the incidence of melanoma, vitiligo-like depigmentation, and amount of speckling in these horses do not follow a simple inheritance pattern.

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Background: At present the Croatian Turopolje pig population comprises about 157 breeding animals. In Austria, 324 Turopolje pigs originating from six Croatian founder animals are registered. Multiple bottlenecks have occurred in this population, one major one rather recently and several more older and moderate ones.

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In horses, graying with age is an autosomal dominant trait associated with a high incidence of melanoma and vitiligo-like depigmentation. Here we show that the Gray phenotype is caused by a 4.6-kb duplication in intron 6 of STX17 (syntaxin-17) that constitutes a cis-acting regulatory mutation.

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Equine melanoma shows striking features particularly with regard to clinical development in grey horses: in contrast to malignant melanoma in humans and in solid coloured horses that are characterized by early onset of metastasis, pigment cell tumours display almost benign clinical features in ageing grey horses. Through evolution, grey horses appear to be in a favourable position in regard to the biological behaviour of melanomas. Yet unknown factors inhibiting or retarding early melanoma metastasis may be responsible for this phenomenon.

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