The paternally inherited, male-specific part of the Y chromosome (MSY) is an ideal marker for studying the origin, genealogies, and historical connections of horse patrilines. Here, we performed fine-scaled MSY haplotype (HT) analysis in two Baroque horse breeds, the Lipizzaner and the Kladruber, both known for their long-standing tradition of sire line breeding and interconnected genealogies. We genotyped 95 MSY markers using KASP technology in 90 stallions representing all patrilines of both breeds.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
December 2024
Inclusive citizen science, an emerging field, has seen extensive research. Prior studies primarily concentrated on creating theoretical models and practical strategies for diversifying citizen science (CS) projects. These studies relied on ethical frameworks or post-project empirical observations.
View Article and Find Full Text PDFThe 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 PDFIn 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 PDFThe 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 PDFElectrochemical migration (ECM) forming dendritic short circuits is a major reliability limiting factor in microcircuits. Gold, which is a noble metal, has been regarded as a metallization that can withstand corrosion and also ECM, therefore its application in high-reliability metallization and surface finishing systems became widespread although it has a relatively high and fluctuating price. Gold electrochemical short circuits have been found only in the case of halogen (e.
View Article and Find Full Text PDFThe 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 PDFThe Mongolian horse represents one of the most ancient extant horse populations. In this study we determined the male-specific region of the Y chromosome (MSY) haplotype distribution in 60 Chinese Mongolian horses representing five distinct populations. Cosmopolitan male lineages were predominant in horses from one improved (Sanhe), one Chinese Mongolian subtype (Baicha Iron Hoof) and one indigenous (Abaga Black) population.
View Article and Find Full Text PDFHumans have shaped the population history of the horse ever since domestication about 5500 years ago. Comparative analyses of the Y chromosome can illuminate the paternal origin of modern horse breeds. This may also reveal different breeding strategies that led to the formation of extant breeds.
View Article and Find Full Text PDFThe 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 PDFBackground: 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 PDFThe 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 PDFThe long term effect of the human body on a pyrolytic carbon covered C/C composite maxillofacial implant (CarBulat(Tm)) was investigated by comparing the structure, the surface morphology and composition of an implant retrieved after 8 years to a sterilized, but not implanted one. Although the thickness of the carbon fibres constituting the implants did not change during the 8 year period, the surface of the implant retrieved was covered with a thin surface layer not present on the unimplanted implant. The composition of this layer is identical to the composition of the underlying carbon fibres.
View Article and Find Full Text PDFIn their previous report, the authors presented observations regarding the long-term application of carbon/carbon implants. After evaluating the good functional and aesthetic results, the effect of the human body on the structure and morphology of the implants was investigated with state of the art methods. An implant retrieved from the body after eight years was compared to implants which were sterilized but not implanted (reference).
View Article and Find Full Text PDFWe have systematically compared copy number variant (CNV) detection on eleven microarrays to evaluate data quality and CNV calling, reproducibility, concordance across array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different analytic tools applied to the same raw data typically yield CNV calls with <50% concordance. Moreover, reproducibility in replicate experiments is <70% for most platforms.
View Article and Find Full Text PDFThe spatial resolution of microarray-based comparative genomic hybridization (array-CGH) is dependent on the length and density of target DNA sequences covering the chromosomal region of interest. Here we describe the methods developed at the Wellcome Trust Sanger Institute (Cambridge, UK) to construct microarrays comprising large-insert clones available through genome sequencing projects. These methods are applicable to Bacterial and Phage Artificial Chromosomes (BAC and PAC) as well as fosmid and cosmid clones.
View Article and Find Full Text PDFLipopolysaccharide (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 PDFPhosphorylated histone H2AX (gammaH2AX) is generated in nucleosomes flanking sites of DNA double-strand breaks, triggering the recruitment of DNA-damage response proteins such as MDC1 and 53BP1. Here, we study shortened telomeres in senescent human cells. We show that most telomeres trigger gammaH2AX formation, which spreads up to 570 kb into the subtelomeric regions.
View Article and Find Full Text PDFHeterogeneity in the genome copy number of tissues is of particular importance in solid tumor biology. Furthermore, many clinical applications such as pre-implantation and non-invasive prenatal diagnosis would benefit from the ability to characterize individual single cells. As the amount of DNA from single cells is so small, several PCR protocols have been developed in an attempt to achieve unbiased amplification.
View Article and Find Full Text PDFThis study describes a new tool for accurate and reliable high-throughput detection of copy number variation in the human genome. We have constructed a large-insert clone DNA microarray covering the entire human genome in tiling path resolution that we have used to identify copy number variation in human populations. Crucial to this study has been the development of a robust array platform and analytic process for the automated identification of copy number variants (CNVs).
View Article and Find Full Text PDFAdolescent perceptions of the impact of illness were measured through the administration of an original questionnaire to 345 healthy adolescents and 168 adolescents with diabetes mellitus, cystic fibrosis, cancer, and cardiac, renal, or rheumatologic diseases. Total impact of illness (e.g.
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