Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila.

ABSTRACT: Notch signaling is involved in the development of almost all organ systems and is required post-developmentally to modulate tissue homeostasis. Rare variants in Notch signaling pathway genes are found in patients with rare Mendelian disorders, while unique or recurrent somatic mutations in a similar set of genes are identified in cancer. The human genome contains four genes that encode Notch receptors, NOTCH1-4, all of which are linked to genetic diseases and cancer. Although some mutations have been classified as clear loss- or gain-of-function alleles based on cellular or rodent based assay systems, the functional consequence of many variants/mutations in human Notch receptors remain unknown. In this review, I will first provide an overview of the domain structure of Notch receptors and

SUBMITTER: Yamamoto S 

PROVIDER: S-EPMC7401704 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature