HairGen · Genetics of human hair form diversity
Horizon 2020 — Marie Skłodowska-Curie Actions
- Duration
- 2016-09-01 → 2018-09-25
- EU contribution
- €195,455
- Participants
- 1
- Scheme
- MSCA-IF
Lines connect the coordinator with its partners.
Results in brief
Genetics of human hair form diversity
We are all enthralled by the human diversity existing around us. Much of what makes us different from each other is our genes. The irony however is that there is not one switch on and off mechanism that makes us distinct but a number of these switches. Studying genes and understanding their complex interactions is important – firstly to unravel the biological adaptations that have occurred in the past and secondly to harness the information for the betterment of public health today and in the future. For this, there is a vital need to carry forward the existing information available from the genome-wide association studies to understand gene function, related biology and influence on disease phenotypes. Human hair shape varies across geographically distinct populations in its shape, color, texture and growth patterns. It is indeed very intriguing to know why we have different hair shapes across the world, which genes and variants are responsible for this diversity, how they work and whether they influence differences in disease incidence in modern populations with different ancestries. The main objectives of the current project were firstly to perform the downstream elucidation of one of the identified variant in a gene coding for serine protease to gain insight on its role in human hair diversity. Secondly, to perform phenotypic assessment for the skin and gland phenotypes to identify other effects of the variant. Thirdly, to elucidate the molecular mechanism of the gene; by studying its expression and interaction with candidate molecular pathways. The main advantage of the project that makes it progressive in the state-of-the-art is that it uses the powerful tool of genome editing in generation of mouse models and the fact that this gene is conserved in mice allows us to undertake the functional follow-up of the variant effectively. The team uses integrated approach of functional genomics, molecular biology, developmental biology and population genetics to contribute towards better understanding of the genetic architecture of the human hair shape.
Data: CORDIS, © European Union
Project objective
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.
Original text from CORDIS.
Participants
- THE UNIVERSITY OF EDINBURGH · EdinburghCoordinatorUnited Kingdom
Links
Data: CORDIS, © European Union