Genetics of human hair form diversity

Información del proyecto

HairGen

Identificador del acuerdo de subvención: 706429

DOI

10.3030/706429

Proyecto cerrado

Fecha de la firma de la CE 4 Marzo 2016

Fecha de inicio 1 Septiembre 2016

Fecha de finalización 25 Septiembre 2018

Financiado con arreglo a

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Coste total

€ 195 454,80

Aportación de la UE

€ 195 454,80

Coordinado por

THE UNIVERSITY OF EDINBURGH
United Kingdom

Objetivo

One of the key challenges in human genetics is to understand the genetic architecture of phenotypic traits. Hair comprises a distinct part of one’s physical identity and its form varies across and within populations. Despite the significant progress made by genome-wide association studies (GWAS), much of the human hair variation remains unexplained. Therefore, a comprehensive study focused on uncovering genetic determinants of human hair form is needed.
The aims of the present project are three fold. First, to use self-reported hair forms as a paradigm to perform in-depth macroscopic and microscopic analyses focusing on hair dimensions that may vary across major hair forms. Additionally, curliness of hair samples will be quantified. Second, to perform a genome-wide association study to identify loci underlying contemporary variation in hair form. To this end, we have hair samples from ~2,700 participants collected from a diverse set of populations and genotypes for >600,000 SNPs. Third, to select the most promising of the identified variants for functional analysis and use the cutting-edge technology of CRISPR/cas9 genome editing in mice to evaluate the hair phenotypes. This will be further complemented with assessment of their skin via histological methods to study the structural and developmental changes associated with the variants.
The project will help to refine the available methods for classification of hair form and identify some of the genes underlying variation in hair form. Most importantly, HairGen will use the novel approach of genome editing in mice to investigate the functional role of the variant, thereby contributing to broader knowledge in the field. This proposal brings together a fellow with relevant background in study of phenotypic trait together with leading experts in the field of anthropology, molecular genetics, and phenotype modeling.

Ámbito científico (EuroSciVoc)

• ciencias naturales › ciencias biológicas › biología molecular › genética molecular
• ciencias médicas y de la salud › biotecnología médica › ingeniería genética › terapia génica
• ciencias naturales › matemáticas › matemáticas puras › análisis matemático › análisis funcional
• ciencias médicas y de la salud › medicina básica › genética médica
• ciencias naturales › ciencias biológicas › genética › genoma

Palabras clave

• hair
• hair form
• phenotype
• genome editing
• mice
• CRISPR
• phenotypic trait
• human
• genetics
• curliness
• SNP
• genotype

Programa(s)

• H2020-EU.1.3. - EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions PROGRAMA PRINCIPAL
  
• H2020-EU.1.3.2. - Nurturing excellence by means of cross-border and cross-sector mobility
  

Tema(s)

• MSCA-IF-2015-EF - Marie Skłodowska-Curie Individual Fellowships (IF-EF)
  

Régimen de financiación

MSCA-IF - Marie Skłodowska-Curie Individual Fellowships (IF)

Convocatoria de propuestas

H2020-MSCA-IF-2015

Coordinador

THE UNIVERSITY OF EDINBURGH

• Aportación neta de la UEn: € 195 454,80
• Dirección: OLD COLLEGE, SOUTH BRIDGE ; EH8 9YL Edinburgh ; Reino Unido
• Región: Scotland › Eastern Scotland › Edinburgh
• Tipo de actividad: Higher or Secondary Education Establishments
• Coste total: € 195 454,80