PMID- 16823502
OWN - NLM
STAT- MEDLINE
DCOM- 20070123
LR  - 20071109
IS  - 0001-6322 (Print)
IS  - 0001-6322 (Linking)
VI  - 112
IP  - 4
DP  - 2006 Oct
TI  - Molecular genetic analysis of the REST/NRSF gene in nervous system tumors.
PG  - 483-90
AB  - The gene for RE1-silencing transcription factor (REST) alias neuron-restrictive 
      silencer factor NRSF, acts as a transcriptional repressor in the neuronal 
      differentiation pathways in non-neuronal cells, and plays an important role in 
      neuronal development. Inactivating mutations or overexpression of REST have 
      previously been reported in various types of cancer, but no data is available for 
      the role of REST alterations in gliomas. REST gene was screened for mutations in 
      161 nervous system tumors consisting of astrocytomas, glioblastomas, 
      oligodendrogliomas, oligoastrocytomas, medulloblastomas, meningiomas and 
      schwannomas. REST exons 1-3 were analyzed using denaturing high-performance 
      liquid chromatography (DHPLC) and direct sequencing. The gene copy numbers of 
      REST were investigated by chromogenic (CISH) and fluorescence in situ 
      hybridization (FISH) techniques. Non-synonymous SNPs (P797L, P815S) were found in 
      eight different brain tumor samples. No truncating or activating novel mutations 
      of REST were discovered. Since REST is located at 4q12, a chromosome region 
      implicated in brain tumorigenesis, we conducted gene copy number analyses in 
      medulloblastomas and gliomas. The majority of gliomas (67%) demonstrated 
      low-level amplifications of REST, and only one oligodendroglioma showed 
      high-level amplification of the gene. In medulloblastomas, 38% of samples were 
      determined as aneuploidic, no high-level amplifications were found. Our data 
      suggests that REST is neither activated nor inactivated via mutations in gliomas, 
      while high-level amplification may rarely occur.
FAU - Blom, Tea
AU  - Blom T
AD  - Molecular Cancer Biology Program, University of Helsinki, Biomedicum Helsinki, 
      Haartmaninkatu 8, P.O. Box 180, 00014 Helsinki, Finland.
FAU - Tynninen, Olli
AU  - Tynninen O
FAU - Puputti, Marjut
AU  - Puputti M
FAU - Halonen, Maija
AU  - Halonen M
FAU - Paetau, Anders
AU  - Paetau A
FAU - Haapasalo, Hannu
AU  - Haapasalo H
FAU - Tanner, Minna
AU  - Tanner M
FAU - Nupponen, Nina N
AU  - Nupponen NN
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060706
PL  - Germany
TA  - Acta Neuropathol
JT  - Acta neuropathologica
JID - 0412041
RN  - 0 (RE1-silencing transcription factor)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Chi-Square Distribution
MH  - Chromatography, High Pressure Liquid/methods
MH  - Exons
MH  - Glioma/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Molecular Biology/methods
MH  - Nervous System Neoplasms/*genetics
MH  - Repressor Proteins/*genetics
MH  - Transcription Factors/*genetics
EDAT- 2006/07/11 09:00
MHDA- 2007/01/24 09:00
CRDT- 2006/07/11 09:00
PHST- 2006/02/23 00:00 [received]
PHST- 2006/06/12 00:00 [accepted]
PHST- 2006/06/09 00:00 [revised]
PHST- 2006/07/11 09:00 [pubmed]
PHST- 2007/01/24 09:00 [medline]
PHST- 2006/07/11 09:00 [entrez]
AID - 10.1007/s00401-006-0102-8 [doi]
PST - ppublish
SO  - Acta Neuropathol. 2006 Oct;112(4):483-90. doi: 10.1007/s00401-006-0102-8. Epub 
      2006 Jul 6.