NDLI: Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors

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Year: 2008 Volume: 7 Issue: 1

Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Araújo, J. J. Almeida, L. O. Custódio, A. C. Rey, J. A. Clara, C. A. Casartelli, C. Almeida, J. R. W. Santos, M. J.
Description	Country affiliation: Brazil Responsible library: BR26.1 Author Affiliation: Almeida, L. O ( Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Laboratório de Oncogenética. Ribeirão Preto. BR); Almeida, J. R. W ( Hospital Universitário La Paz. Laboratorio de Oncogenética Molecular. Unidad de Investigación. Madrid. ES); Araújo, J. J ( Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Laboratório de Oncogenética. Ribeirão Preto. BR); Casartelli, C ( Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Laboratório de Oncogenética. Ribeirão Preto. BR); Santos, M. J ( Hospital Universitário La Paz. Laboratorio de Oncogenética Molecular. Unidad de Investigación. Madrid. ES); Custódio, A. C ( Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Laboratório de Oncogenética. Ribeirão Preto. BR); Rey, J. A ( Hospital Universitário La Paz. Laboratorio de Oncogenética Molecular. Unidad de Investigación. Madrid. ES); Clara, C. A ( Hospital Universitário La Paz. Laboratorio de Oncogenética Molecular. Unidad de Investigación. Madrid. ES)
Abstract	The cancer is one of the most common and severe problems in clinical medicine, and nervous system tumors represent about 2% of the types of cancer. The central role of the nervous system in the maintenance of vital activities and the functional consequences of the loss of neurons can explain how severe brain cancers are. The cell cycle is a highly complex process, with a wide number of regulatory proteins involved, and such proteins can suffer alterations that transform normal cells into malignant ones. The INK4 family members (CDK inhibitors) are the cell cycle regulators that block the progression of the cycle through the R point, causing an arrest in G1 stage. The p14ARF (alternative reading frame) gene is a tumor suppressor that inhibits p53 degradation during the progression of the cell cycle. The PTEN gene is related to the induction of growth suppression through cell cycle arrest, to apoptosis and to the inhibition of cell adhesion and migration. The purpose of the present study was to assess the mutational state of the genes p14ARF, p15INK4b, p16INK4a, and PTEN in 64 human nervous system tumor samples. Homozygous deletions were found in exon 2 of the p15INK4b gene and exon 3 of the p16INK4a gene in two schwannomas. Three samples showed a guanine deletion (63 codon) which led to a loss of heterozygosity in the p15 gene, and no alterations could be seen in the PTEN gene. Although the group of patients was heterogeneous, our results are in accordance with other different studies that indicate that homozygous deletion and loss of heterozygosity in the INK4 family members are frequently observed in nervous system tumors.
e-ISSN	16765680
Journal	Genetics and Molecular Research
Issue Number	2
Volume Number	7
Language	English
Publisher	Fundação de Pesquisas Científicas de Ribeirão Preto
Publisher Place	Brazil
Access Restriction	Open
Subject Keyword	Cyclin-dependent Kinase Inhibitor P15 Genetics Cyclin-dependent Kinase Inhibitor P16 Nervous System Neoplasms Tumor Suppressor Protein P14arf Pathology Dna Mutational Analysis Gene Deletion Homozygote Loss Of Heterozygosity Pten Phosphohydrolase Polymerase Chain Reaction Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics
Content Type	Text
Resource Type	Article

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