Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/109926
Title: Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression Levels
Authors: Crespo, Inês 
Tão, Hermínio 
Nieto, Ana Belen
Rebelo, Olinda 
Domingues, Patrícia 
Vital, Ana Luísa 
Patino, Maria del Carmen
Barbosa, Marcos 
Lopes, M. C. 
Oliveira, C. R. 
Orfão, Alberto 
Tabernero, María Dolores 
Issue Date: 2012
Publisher: Public Library of Science
Project: FCT PIC/IC/83108/2007 
SFRH/BD/23086/2005 
SFRH/BD/11820/2003 
Fundación Mutua Madrileña, Madrid, Spain [AP87692011 
Instituto de Salud Carlos III, Ministerio de Ciencia e Innovacio´ n, Madrid, Spain [RTICC RD06/0020/0035 
Serial title, monograph or event: PLoS ONE
Volume: 7
Issue: 9
Abstract: Background: Glioblastoma multiforme (GBM) displays multiple amplicons and homozygous deletions that involve relevant pathogenic genes and other genes whose role remains unknown. Methodology: Single-nucleotide polymorphism (SNP)-arrays were used to determine the frequency of recurrent amplicons and homozygous deletions in GBM (n = 46), and to evaluate the impact of copy number alterations (CNA) on mRNA levels of the genes involved. Principal Findings: Recurrent amplicons were detected for chromosomes 7 (50%), 12 (22%), 1 (11%), 4 (9%), 11 (4%), and 17 (4%), whereas homozygous deletions involved chromosomes 9p21 (52%) and 10q (22%). Most genes that displayed a high correlation between DNA CNA and mRNA levels were coded in the amplified chromosomes. For some amplicons the impact of DNA CNA on mRNA expression was restricted to a single gene (e.g., EGFR at 7p11.2), while for others it involved multiple genes (e.g., 11 and 5 genes at 12q14.1–q15 and 4q12, respectively). Despite homozygous del(9p21) and del(10q23.31) included multiple genes, association between these DNA CNA and RNA expression was restricted to the MTAP gene. Conclusions: Overall, our results showed a high frequency of amplicons and homozygous deletions in GBM with variable impact on the expression of the genes involved, and they contributed to the identification of other potentially relevant genes.
URI: http://hdl.handle.net/10316/109926
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0046088
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
FFUC- Artigos em Revistas Internacionais
I&D CNC - Artigos em Revistas Internacionais

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