Functional Analysis of Human NF1 in Drosophila

Abstract

Neurofibromatosis type 1 (NF1) is a common single gene neurogenetic disorder characterized by tumors in peripheral nerve terminals. A large fraction of patients also have learning problem. Such learning phenotypes have been recapitulated in animal models, including in mouse and Drosophila mutants. This proposal mainly examines functions of the neurofibromatosis type 1 (NF1) gene and its regulated signal transduction pathways in learning and memory in Drosophila. We have reported in previous annual report that the NF1 C-terminal mediating Gsa/NF1-dependent activation of adenylyl cyclase (AC) and the GAP-related domain (GRD) for regulating Ras activity, such as Ras/NF1-dependent AC activation. Over last funding period, we mainly focused on studying roles of these two distinct functional domains in learning and memory. Our study revealed that both immediate memory and long-term memory (LTM) are abnormal in NF1 mutants. Our analysis of effects of clinically relevant mutant NF1 genes concluded that LTM formation only requires GAP function of NF1 and is mediate by the GRD while immediate memory only involves the C-terminal. Thus, NF1 is required for formation of two memory components but through distinct functional domains that regulates different signal transduction pathways.

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Document Details

Document Type
Technical Report
Publication Date
Dec 01, 2008
Accession Number
ADA490394

Entities

People

  • Yi Zhong

Organizations

  • Cold Spring Harbor Laboratory

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Brain
  • Cell Physiological Processes
  • Cells
  • Cognition
  • Diptera
  • Diseases And Disorders
  • Enzyme Inhibitors
  • Genes
  • Genetics
  • Health Services
  • Neoplasms
  • Nervous System
  • Neurofibromatosis
  • Neuromuscular Diseases
  • New York
  • Peripheral Nervous System
  • Phenotypes

Fields of Study

  • Biology

Readers

  • Molecular Biology and Genetics
  • Neural Network Machine Learning.
  • Neurological Diseases/Conditions/Disorders