Publications by authors named "Doris Rigler"

A missense mutation in damage-specific DNA binding protein 2 (DDB2 c.1013 C>T; p.Thr338Met) has been described as a risk factor for ocular squamous cell carcinoma (OSCC) in the Haflinger breed.

View Article and Find Full Text PDF
Article Synopsis
  • Horses have been shaped by human needs through selective breeding, leading to a very uniform male-specific portion of the Y chromosome (MSY) across modern breeds.
  • The study analyzed 1,517 males from 189 horse breeds, revealing the significant influence of Oriental stallions, especially Arabian and English Thoroughbred, over the past few centuries.
  • Additionally, the research uncovered two major historical waves of horse dissemination, including the "Spanish influence" from the Iberian Peninsula and the spread during the Ottoman Empire's expansion, highlighting the complex ancestry of modern horses.
View Article and Find Full Text PDF

The Y chromosome carries information about the demography of paternal lineages, and thus, can prove invaluable for retracing both the evolutionary trajectory of wild animals and the breeding history of domesticates. In horses, the Y chromosome shows a limited, but highly informative, sequence diversity, supporting the increasing breeding influence of Oriental lineages during the last 1500 years. Here, we augment the primary horse Y-phylogeny, which is currently mainly based on modern horse breeds of economic interest, with haplotypes (HT) segregating in remote horse populations around the world.

View Article and Find Full Text PDF

In horses, demographic patterns are complex due to historical migrations and eventful breeding histories. Particularly puzzling is the ancestry of the North African horse, a founding horse breed, shaped by numerous influences throughout history. A genetic marker particularly suitable to investigate the paternal demographic history of populations is the non-recombining male-specific region of the Y chromosome (MSY).

View Article and Find Full Text PDF

The Y chromosome is a valuable genetic marker for studying the origin and influence of paternal lineages in populations. In this study, we conducted Y-chromosomal lineage-tracing in Arabian horses. First, we resolved a Y haplotype phylogeny based on the next generation sequencing data of 157 males from several breeds.

View Article and Find Full Text PDF

The Estonian Native Horse (ENH) is a medium-size pony found mainly in the western islands of Estonia and is well-adapted to the harsh northern climate and poor pastures. The ancestry of the ENH is debated, including alleged claims about direct descendance from the extinct Tarpan. Here we conducted a detailed analysis of the genetic makeup and relationships of the ENH based on the genotypes of 15 autosomal short tandem repeats (STRs), 18 Y chromosomal single nucleotide polymorphisms (SNPs), mitochondrial D-loop sequence and lateral gait allele in .

View Article and Find Full Text PDF
Article Synopsis
  • The study explores the use of Y chromosome analysis to trace paternal lineage in horses, focusing on the fine-scaled haplotyping of various breeds.
  • Researchers sequenced a draft reference of the Y chromosome, identifying 58 haplotypes and three major haplogroups, with significant findings in Central European and North American horse breeds.
  • The project resolved historical lineage questions, particularly concerning English Thoroughbred stallions and the parentage of 'Galopin', and highlighted rapid diversification in male lineages after horse domestication.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Background: Epithelial-mesenchymal transition (EMT) is an important process in embryonic development, especially during gastrulation and organ formation. Furthermore EMT is widely observed in pathological conditions, e.g.

View Article and Find Full Text PDF

The transcription factor STAT1 is essential for interferon (IFN)-mediated immunity in humans and mice. STAT1 function is tightly regulated, and both loss- and gain-of-function mutations result in severe immune diseases. The two alternatively spliced isoforms, STAT1α and STAT1β, differ with regard to a C-terminal transactivation domain, which is absent in STAT1β.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to investigate how the gene Tyk2 influences the expression and release of IL-27 in macrophages when activated by TLR4.
  • Macrophages from Tyk2-deficient mice produced significantly less IL-27(p28) after activation compared to those from wild-type mice, indicating Tyk2's crucial role in this process.
  • In vivo experiments showed that Tyk2-/- mice had better survival rates during severe infections, and reduced levels of IL-27 were linked to improved outcomes, highlighting Tyk2's potential role in adverse responses during systemic inflammatory responses.
View Article and Find Full Text PDF
Article Synopsis
  • - The transcription factor STAT1 is crucial for natural killer (NK) cells, which act as the body's first line of defense against tumors and viral infections.
  • - A specific mutation in STAT1 called Stat1-S727A boosts NK cell effectiveness against various tumors by increasing levels of perforin and granzyme B.
  • - Targeting the phosphorylation process of STAT1 by inhibiting cyclin-dependent kinase 8 (CDK8) could be a new way to enhance NK cell tumor-fighting abilities.
View Article and Find Full Text PDF

Lipopolysaccharide (LPS) is an integral structural component of the outer membrane of Gram-negative bacteria and the principal active agent in the pathogenesis of endotoxin shock. LPS is a potent inducer of a variety of cytokines and inflammatory agents that lead to a profound alteration of gene expression patterns in cells and organs. The gene coding for the inducible nitric oxide synthase (iNOS) is highly responsive to LPS in vitro and in vivo and accounts for the production of nitric oxide (NO).

View Article and Find Full Text PDF