Accession Number:



NF1 Neuronal Genotype-Phenotype Relationships

Descriptive Note:

[Technical Report, Annual Report]

Corporate Author:

Massachusetts General Hospital

Personal Author(s):

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This project examines pathogenic NF1 missense mutations. We have modeled these mutations in Drosophila transgenes in order to investigate their molecular and cellular consequences in vivo. We have examined their ability to rescue Ras signaling in neurons in Drosophila deficient for endogenous NF1. Further, we have assessed their ability to rescue NF1 mutant developmental and adult-specific defects, including organismal growth, climbing ability and sleepcircadian behaviors. These assays have identified previously unexplored regions of the neurofibromin protein that are required for correct function in Drosophila. We will use these insights for subsequent CRISPRCas9 gene editing of human induced pluripotent stem cells iPSCs to model specific missense mutations of interest and examine their functional consequences in derived neurons.

Subject Categories:

  • Medicine and Medical Research
  • Genetic Engineering and Molecular Biology

Distribution Statement:

[A, Approved For Public Release]