Istituto Toscano Tumori, Firenze | Italy
Paroxysmal nocturnal haemoglobinuria is a unique example of a clonal (non-cancer) human disorder in which a somatic mutation of a specific X-linked gene (PIG-A) confers onto a haematopoietic clone a growth advantage only under certain conditions which we are in the process of pinpointing. Upon discovering that rare PIG-A mutant cells exist in all normal people, we are investigating the genetic determinants of the somatic mutation rate as a novel quantitative trait.
Keywords: PNH / G6PD / human genetics / somatic mutations / cancer susceptibility genes
Subject area(s): Genome Stability & Dynamics | Molecular Medicine