Accession Number:

ADA604200

Title:

Investigation Into the Role of C17orf79/COPR5 in E2F/DP Target Gene Overexpression in NF1 Microdeletion Syndrome

Descriptive Note:

Annual rept. 1 May 2013-30 Apr 2014

Corporate Author:

MASSACHUSETTS GENERAL HOSPITAL BOSTON

Personal Author(s):

• Bernards, Andre

Report Date:

2014-05-01

Pagination or Media Count:

9.0

Abstract:

The5-10 of NF1 patients who harbor so-called microdeletions often develop high numbers of neurofibromas at an early age. Similar enhanced tumorigenesis is not seen in pateinets with smaller deletions that remove just the NF1 gene, arguing that one or more of the 20 genes acts as a tumor burden modifier. Underlying this project was our finding that fibroblast and Schwann cells over-express multiple E2FDP target genes, and that siRNA mediated suppression of C17orf79COPR5 partially phenocopied this expression signature. However, results obtainted to date have cast doubt on our hypothesis C17orf79COPR5 is the long sought for NF1 tumor burden modifier. Thus, new containing fibroblasts failed to show the E2FDP target gene over-expression signature, and while it is possible that trivial reasons are responsible for this negatie result, work by others has implicated another gene, SUZ-12 as a likely tumor burgen modifier. Whether C17orf79COPR5 acts in conjunction with SUZ12 to promote tumorigenesis remains to be determined.

Descriptors:

• *FIBROBLASTS
• *FIBROSIS
• *NEOPLASMS
• *NEUROBLASTOMA
• *SIGNS AND SYMPTOMS
• GENETIC ENGINEERING
• IDENTIFICATION

Subject Categories:

• Anatomy and Physiology
• Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE