A5011731295- Hair Growth and Disorders
- dental development and anomalies
- Skin and Cellular Biology Research
- Metabolism and Genetic Disorders
- Wnt/β-catenin signaling in development and cancer
- Lipoproteins and Cardiovascular Health
- Parathyroid Disorders and Treatments
- Bone health and treatments
- Hemoglobinopathies and Related Disorders
- Cancer-related gene regulation
- Biomedical Research and Pathophysiology
- Liver Disease Diagnosis and Treatment
- Erythrocyte Function and Pathophysiology
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Diabetes and associated disorders
- Cellular Mechanics and Interactions
- Liver Disease and Transplantation
- Dermatological and Skeletal Disorders
- Cancer, Lipids, and Metabolism
- Hereditary Neurological Disorders
- Thyroid Disorders and Treatments
- RNA regulation and disease
- Mitochondrial Function and Pathology
Roslin Institute
2015-2025
University of Edinburgh
2015-2025
Institute of Genetics and Cancer
2013
RIKEN Center for Brain Science
2013
University of Cambridge
2013
University of Manchester
2004-2009
John Innes Centre
2004
University of Washington
2004
Case Western Reserve University
2001
Baylor College of Medicine
1999-2001
Abstract We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. evaluated 14 traits on an ordinal scale and found significant ( P values<5 × 10 −8 ) at single-nucleotide polymorphisms (SNPs) four genomic regions three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) wing (7p13 20p11). In subsample of ∼3,000 individuals we obtained quantitative related to 9 the phenotypes and, also, measure nasion position. Quantitative analyses...
Abstract We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial (beard thickness, monobrow, eyebrow thickness). found 18 signals reaching significance ( P values 5 × 10 −8 to 3 −119 ), including novel associations. These include loci shape balding, the first reported beard thickness. A newly identified locus influencing includes Q30R substitution Protease Serine S1 family member 53 PRSS53 ). demonstrate...
Fingerprints are complex and individually unique patterns in the skin. Established prenatally, molecular cellular mechanisms that guide fingerprint ridge formation their intricate arrangements unknown. Here we show ridges epithelial structures undergo a truncated hair follicle developmental program fail to recruit mesenchymal condensate. Their spatial pattern is established by Turing reaction-diffusion system, based on signaling between EDAR, WNT, antagonistic BMP pathways. These signals...
In RNA interference (RNAi), double-stranded (dsRNA) triggers degradation of homologous messenger RNA. many organisms, RNA-dependent polymerase (RdRp) is required to initiate or amplify RNAi, but the substrate for dsRNA synthesis in vivo not known. Here, we show that RdRp-dependent transgene silencing Arabidopsis was caused by mutation XRN4, which a ribonuclease (RNase) implicated mRNA turnover means decapping and 5'-3' exonucleolysis. When both XRN4 RdRp were mutated, plants accumulated...
tabby and downless mutant mice have apparently identical defects in teeth, hair sweat glands. Recently, genes responsible for these spontaneous mutations been identified. (Dl) encodes Edar, a novel member of the tumour necrosis factor (TNF) receptor family, containing characteristic extracellular cysteine rich fold, single transmembrane region death homology domain close to C terminus. (Ta) ectodysplasin-A (Eda) type II membrane protein TNF ligand family an internal collagen-like domain. As...
Hair follicles are spaced apart from one another at regular intervals through the skin. Although predominantly epidermal structures, classical tissue recombination experiments indicated that underlying dermis defines their location during development. many molecules involved in hair follicle formation have been identified, molecular interactions determine emergent property of pattern remained elusive. We used embryonic skin cultures to dissect signaling responses and patterning outcomes as...
Two theories address the origin of repeating patterns, such as hair follicles, limb digits, and intestinal villi, during development. The Turing reaction–diffusion system posits that interacting diffusible signals produced by static cells first define a prepattern then induces cell rearrangements to produce an anatomical structure. second theory, mesenchymal self-organisation, proposes mobile can form periodic patterns aggregates directly, without reference any prepattern. Early follicle...
Appropriate development of stratified, squamous, keratinizing epithelia, such as the epidermis and oral generates an outer protective permeability barrier that prevents water loss, entry toxins, microbial invasion. During embryogenesis, immature ectoderm initially consists a single layer undifferentiated, cuboidal epithelial cells stratifies to produce flattened periderm unknown function. Here, we determined form in distinct pattern early exhibit highly polarized expression adhesion...
The different segments of the nephron and glomerulus in kidney balance processes water homeostasis, solute recovery, blood filtration, metabolite excretion. When segment function is disrupted, a range pathological features are presented. Little known about patterning during embryogenesis. In this study, we demonstrate that early patterned by gradient β-catenin activity along axis tubule. By modifying activity, force cells within nephrons to differentiate according imposed level, thereby...
Feathers are arranged in a precise pattern avian skin. They first arise during development row along the dorsal midline, with rows of new feather buds added sequentially spreading wave. We show that patterning feathers relies on coupled fibroblast growth factor (FGF) and bone morphogenetic protein (BMP) signalling together mesenchymal cell movement, acting coordinated reaction-diffusion-taxis system. This periodic system is partly mechanochemical, mechanical-chemical integration occurring...
•Tail interfollicular epidermis comprises two distinct differentiated lineages•The lineages are maintained by unipotent progenitors that differ in cell-cycle time•The independent of hair follicles and melanocytes•The regulated Wnt, Edaradd, Lrig1 Current models how mouse tail (IFE) is overlook the coexistence terminal differentiation programs: parakeratotic (scale) orthokeratotic (interscale). Lineage tracing clonal analysis revealed scale interscale cells underlying basal layer, with...
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find significant at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion antitragus (linear regression P values 2 × 10(-8) to 3 10(-14)). Four traits are associated with functional variant the Ectodysplasin A receptor (EDAR) gene, key regulator embryonic skin appendage development. confirm expression Edar developing...
Hair morphology differs dramatically between human populations: people of East Asian ancestry typically have a coarse hair texture, with individual fibers being straight, large diameter, and cylindrical when compared to European or African origin. Ectodysplasin-A receptor (EDAR) is cell surface the tumor necrosis factor (TNFR) family involved in development follicles, teeth, sweat glands. Analyses genome-wide polymorphism data from multiple populations suggest that EDAR experienced strong...
Vertebrate skin is characterized by its patterned array of appendages, whether feathers, hairs, or scales. In avian the distribution feathers occurs on two distinct spatial levels. Grouping within discrete tracts, with bare lying between termed macropattern, while smaller scale periodic spacing individual referred to as micropattern. The degree integration patterning mechanisms that operate these scales during development and underlying remarkable evolvability macropatterns are unknown. A...
Scaleless (sc/sc) chickens carry a single recessive mutation that causes lack of almost all body feathers, as well foot scales and spurs, due to failure skin patterning during embryogenesis. This spontaneous mutant line, first described in the 1950s, has been used extensively explore tissue interactions involved ectodermal appendage formation embryonic skin. Moreover, trait is potentially useful tropical agriculture ability featherless tolerate heat, which at present major constraint...