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

• Published in: Development, growth & differentiation Vol. 62; no. 1; pp. 15 - 34
• Main Author: Yamamoto, Shinya
• Format: Journal Article
• Language: English
• Published: Japan Wiley Subscription Services, Inc 01.01.2020
• Subjects: Alleles; Amino Acid Substitution; Animals; cancer; Drosophila; Drosophila melanogaster; Drosophila Proteins - chemistry; Drosophila Proteins - genetics; Drosophila Proteins - metabolism; Gene mapping; Genes; Genetic screening; Homeostasis; Insects; Kinases; Mendelian diseases; Missense mutation; Mutants; Mutation; Mutation, Missense; Notch signaling pathway; Notch1 protein; Phenotypes; Protein Domains; Receptor mechanisms; Receptors, Notch - chemistry; Receptors, Notch - genetics; Receptors, Notch - metabolism; Signal transduction; structure function analysis; Structure-Activity Relationship; Structure-function relationships; variants of unknown significance (VUS); Notch signaling pathway; Mendelian diseases; cancer; Drosophila melanogaster; structure function analysis; variants of unknown significance (VUS)

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...