ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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The Retinoblastoma Susceptibility Gene, And Retinoblastoma
Dr.Süleyman AYDIN,a Dr.Emrah ÇAYLAK,a Dr.Süleyman YILDIRIM,b
Dr.Nermin KILIÇ,a Dr.Fazilet ERMAN,a Dr.Nimet KABAKUŞc
aBiyokimya AD, bGöz Hastalıkları AD, cÇocuk Nörolojisi AD, Fırat Üniversitesi Tıp Fakültesi, ELAZIĞ
Oncogenic stimuli are thought to induce many pathways in normal cells in order to protect against transformation. Retinoblastoma tumor-suppressor protein (pRB) (related with many pocket proteins) controls the G1/S transition in the cell cycle by binding and inactivating E2F transcription factor. Retinoblastoma protein (Rb)/E2F pathway play a pivotal role in regulating eukaryotic cell cycle progression (normal development and cancer prevention) apoptosis, and terminal differentiation. pRB changes the chromatin structure at the E2F-responsive promoter, thus controlling the transcriptional activity of E2F.
Cyclin-dependent kinases (Cdks) phosphorylate pRB and disrupt association between pRB and E2F. Also, E2F1 plays a critical role in cell proliferation, and its function is controlled by the retinoblastoma (RB) protein. Furthermore, growth arrest correlated with increased binding of p21 and p27 to cyclin-dependent kinase-2 (Cdk2), and inhibition of Cdk2 kinase activity. Cdk2 relocalization to the cytoplasm correlated with dephosphorylation of nuclear retinoblastoma tumor suppressor protein and lowered nuclear Cdk2 activity
Retinoblastoma is a malignant tumor of the eye, originating from progenitors of retinal sensory cells. It might be either hereditary or sporadic in appearance. The hereditary form is generally bilateral and multifocal, whereas the sporadic form is unifocal or unilateral. Retinoblastoma occurs with RB1 gene mutation in the long arm of chromosome 13.
Changes in the retinoblastoma (Rb) gene have been correlated with a large number and wide variety of human tumors. Thus, the goal of this study was to review and evaluate the recent investigation regarding retinoblastoma gene (RB1) and associated gene product.Keywords: Retinoblastoma, malignant tumor, RB1 geneTurkiye Klinikleri J Med Sci 2004, 24:173-177
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