Thesis / Dissertation

Determining the impact of Recql4 mutations on normal homeostasis, tumour development, and functional genetic interactions

Wilson Javier Castillo Tandazo, Carl Walkley (ed.)

Published : 2020

Abstract

Since mutations in the RECQL4 gene were identified as causative of Rothmund-Thomson syndrome (RTS) more than twenty years ago, some inroads have been made in the understanding of this disease and its mutations. It has been discovered that the majority of these mutations are nonsense and frameshift mutations resulting in truncating protein products that delete both the helicase and the C-terminal domain. The deletion of these domains results in a dysfunctional RECQL4 protein and the development of the variable clinical spectrum and the increased predisposition to malignancies, typical of RTS. Several Recql4-mutated mice have been generated as a model for RTS. Although these models have cont..

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