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.
