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


Full Text : http://www.dtic.mil/get-tr-doc/pdf?AD=ADA604200


Report Date : May 2014


Pagination or Media Count : 9


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 E2F/DP target genes, and that siRNA mediated suppression of C17orf79/COPR5 partially phenocopied this expression signature. However, results obtainted to date have cast doubt on our hypothesis C17orf79/COPR5 is the long sought for NF1 tumor burden modifier. Thus, new containing fibroblasts failed to show the E2F/DP 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 C17orf79/COPR5 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