A5029969915- Genetic and phenotypic traits in livestock
- melanin and skin pigmentation
- Skin and Cellular Biology Research
- Genetic Mapping and Diversity in Plants and Animals
- Wnt/β-catenin signaling in development and cancer
- Animal Genetics and Reproduction
- RNA regulation and disease
- Neurological diseases and metabolism
- Veterinary Equine Medical Research
- dental development and anomalies
- Molecular Biology Techniques and Applications
- Connective tissue disorders research
- Genomics and Phylogenetic Studies
- Hair Growth and Disorders
- Genetic diversity and population structure
- Cancer-related molecular mechanisms research
- RNA Research and Splicing
- Biochemical Analysis and Sensing Techniques
- Glycosylation and Glycoproteins Research
- Cancer-related gene regulation
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Dermatology and Skin Diseases
- Cell Adhesion Molecules Research
- RNA and protein synthesis mechanisms
University of Bern
2016-2025
University Hospital of Bern
2020
Hirslanden Klinik Aarau
2020
Ushio (Japan)
2020
Kyoto University
2020
University of Veterinary Medicine Vienna
2005-2018
Bern University of Applied Sciences
2014-2017
Agroscope
2014-2017
University of Zurich
2009-2015
University of Veterinary Medicine Hannover, Foundation
2000-2009
A Horse Is a Horse, of Course The history horse domestication is closely tied to the human society. Wade et al. (p. 865 ) report on sequencing and provide single nucleotide polymorphism map ( Equus caballus genome. Horses are member order perissodactyla (odd-toed animals with hooves). analysis reveals an evolutionarily new centromere equine chromosome 11 that displays properties immature but fully functioning devoid centromeric satellite sequence. findings clarify nature genetic diversity...
Whole transcriptome sequencing (RNA-seq) has become a standard for cataloguing and monitoring RNA populations. One of the main bottlenecks, however, is to correctly identify different classes RNAs among plethora reconstructed transcripts, particularly those that will be translated (mRNAs) from class long non-coding (lncRNAs). Here, we present FEELnc (FlExible Extraction LncRNAs), an alignment-free program accurately annotates lncRNAs based on Random Forest model trained with general features...
Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping array, breed-specific targets of selection were identified using an FST-based statistic calculated 500-kb windows across the genome. A 5.5-Mb region ECA18, which myostatin (MSTN) gene was centered, contained highest signature both Paint Quarter...
Horses were domesticated from the Eurasian steppes 5,000–6,000 years ago. Since then, use of horses for transportation, warfare, and agriculture, as well selection desired traits fitness, has resulted in diverse populations distributed across world, many which have become or are process becoming formally organized into closed, breeding (breeds). This report describes a genome-wide set autosomal SNPs 814 36 breeds to provide first detailed description equine breed diversity. FST calculations,...
An equine SNP genotyping array was developed and evaluated on a panel of samples representing 14 domestic horse breeds 18 evolutionarily related species. More than 54,000 polymorphic SNPs provided an average inter-SNP spacing ∼43 kb. The mean minor allele frequency across 0.23, the number within ranged from 43,287 to 52,085. Genome-wide linkage disequilibrium (LD) in most declined rapidly over first 50–100 kb reached background levels 1–2 Mb. extent LD level inbreeding were highest...
Ancient genomics of horse domestication The the was a seminal event in human cultural evolution. Librado et al. obtained genome sequences from 14 horses Bronze and Iron Ages, about 2000 to 4000 years ago, soon after domestication. They identified variants determining coat color genes selected during process. could also see evidence admixture with archaic demography process, which included accumulation deleterious variants. appears have undergone different type process than animals that were...
The domestic dog serves as an excellent model to investigate the genetic basis of disease. More than 400 heritable traits analogous human diseases have been described in dogs. To further canine medical genetics research, we established Dog Biomedical Variant Database Consortium (DBVDC) and present a comprehensive list functionally annotated genome variants that were identified with whole sequencing 582 dogs from 126 breeds eight wolves. genomes used study minimum coverage 10× average ~24×....
The international Dog10K project aims to sequence and analyze several thousand canine genomes. Incorporating 20 × data from 1987 individuals, including 1611 dogs (321 breeds), 309 village dogs, 63 wolves, four coyotes, we identify genomic variation across the canid family, setting stage for detailed studies of domestication, behavior, morphology, disease susceptibility, genome architecture function.
Leopard complex spotting is a group of white patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate for both CSNB and LP. RNA-Seq data pinpointed 1378 bp insertion intron TRPM1 potential cause. This insertion, long terminal repeat (LTR) endogenous retrovirus, was completely...
The molecular analysis of genes influencing human height has been notoriously difficult. Genome-wide association studies (GWAS) for in humans based on tens thousands to hundreds samples so far revealed ∼200 loci explaining only 20% the heritability. In domestic animals isolated populations with a greatly reduced genetic heterogeneity facilitate more efficient complex traits. We performed genome-wide study 1,077 Franches-Montagnes (FM) horses using ∼40,000 SNPs. Our two QTL at withers...
Significance Yakutia is among the coldest regions in Northern Hemisphere, showing ∼40% of its territory above Arctic Circle. Native horses are particularly adapted to this environment, with body sizes and thick winter coats minimizing heat loss. We sequenced complete genomes two ancient nine present-day Yakutian elucidate their evolutionary origins. find that contemporary population descends from domestic livestock, likely brought by early horse-riders who settled region a few centuries ago....
Collagen is the most abundant protein in animals and a major component of extracellular matrix tissues such as skin bone. A distinctive structural feature all collagen types unique triple-helical structure formed by tandem repeats consensus sequence Xaa-Yaa-Gly, which Xaa Yaa frequently are proline hydroxyproline, respectively. Hsp47/SERPINH1 procollagen-specific molecular chaperone that, unlike other chaperones, specifically recognizes folded conformation its client. Reduced functional...
During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White patterns horses are a complex trait with large phenotypic variance ranging from minimal markings up completely horses. The “splashed white” pattern is primarily characterized by an extremely blaze, often accompanied extended at distal limbs blue...
Mexican and Peruvian hairless dogs Chinese crested are characterized by missing hair teeth, a phenotype termed canine ectodermal dysplasia (CED). CED is inherited as monogenic autosomal semidominant trait. With genomewide association analysis we mapped the mutation to 102–kilo–base pair interval on chromosome 17. The associated contains previously uncharacterized member of forkhead box transcription factor family (FOXI3), which specifically expressed in developing teeth. Mutation revealed...
To date, genome-scale analyses in the domestic horse have been limited by suboptimal single nucleotide polymorphism (SNP) density and uneven genomic coverage of current SNP genotyping arrays. The recent availability whole genome sequences has created opportunity to develop a next generation, high-density equine array. Using sequence from 153 individuals representing 24 distinct breeds collated genomics community, we cataloged over 23 million de novo discovered genetic variants. Leveraging...
ABSTRACT Dogs are the most phenotypically diverse mammalian species, and they possess more known heritable disorders than any other non-human mammal. Efforts to catalog characterize genetic variation across well-chosen populations of canines necessary advance our understanding their evolutionary history architecture. To date, no organized effort has been undertaken sequence world's canid populations. The Dog10K Consortium (http://www.dog10kgenomes.org) is an international collaboration...
In morphological terms, "form" is used to describe an object's shape and size. dogs, facial form stunningly diverse. Facial retrusion, the proximodistal shortening of snout widening hard palate common brachycephalic dogs a welfare concern, as incidence respiratory distress ocular trauma observed in this class highly correlated with their skull form. Progress identify molecular underpinnings retrusion limited association missense mutation BMP3 among small dogs. Here, we morphometrics...
White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes horses. It shows considerable phenotypic variation, ranging from ∼50% depigmented areas up to completely coat. In the horse, four roan, sabino, tobiano, and dominant were independently mapped chromosomal region on ECA 3 harboring KIT gene. plays an important role melanoblast survival during embryonic development. We determined sequence...
The susceptibility of humans to the variant Creutzfeldt-Jakob disease is greatly influenced by polymorphisms within human prion protein gene (PRNP). Similar genetic differences exist in sheep, which PRNP modify scrapie. However, known coding bovine have little or no effect on spongiform encephalopathy (BSE) cattle. We recently found a tentative association between promoter and BSE German cattle (Sander, P., Hamann, H., Pfeiffer, I., Wemheuer, W., Brenig, B., Groschup, M., Ziegler, U., Distl,...
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It characterized by extremely fragile bones teeth. Most human some canine OI cases are caused mutations the COL1A1 COL1A2 genes encoding subunits of collagen I. Recently, CRTAP LEPRE1 were found to cause rare forms OI. Many exist where causative mutation has not yet been found. We investigated Dachshunds with an autosomal recessive form Genotyping only five affected dogs on 50 k SNP chip allowed us localize...