Novel missense mutation in FHIT gene: interpreting the effect in HPV-mediated cervical cancer in Indian women

Kausar Neyaz, Md. ; Hussain, Showket ; Imtaiyaz Hassan, Md. ; Das, Bhudev C. ; Husain, Syed Akhtar ; Bharadwaj, Mausumi (2010) Novel missense mutation in FHIT gene: interpreting the effect in HPV-mediated cervical cancer in Indian women Molecular and Cellular Biochemistry, 335 (1-2). pp. 53-58. ISSN 0300-8177

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Official URL: http://www.springerlink.com/content/075157606v7x12...

Related URL: http://dx.doi.org/10.1007/s11010-009-0240-0

Abstract

Human papillomavirus (HPV) is considered to be a major etiological factor but is not sufficient for the development of cervical cancer. Other host factors including altered tumor suppressor gene activities might contribute to the carcinogenic process. Fragile Histidine Triad (FHIT) has been shown to play a pivotal role in carcinogenesis. Therefore, we made an attempt to find out point mutation of FHIT gene in HPV mediated cervical cancer in Indian women. 112 cases of cervical carcinoma tissue biopsies and 38 cervical scrapes samples of normal cytology were employed for this study. Herein, we report a novel mutation identified at nucleotide position 655, at codon 98 from CAT → CGT with ultimate replacement of amino acid Histidine by Arginine in cervical cancer cases. Molecular modeling was performed to predict the effect of this mutation in disease pathology. We predict that this change, His to Arg substitution in substrate-binding domain may generate catalytically inactive protein with loss of tumor suppressor activity.

Item Type:Article
Source:Copyright of this article belongs to Springer-Verlag.
Keywords:Cervical Cancer; Human Papillomavirus; HPV; FHIT; Mutation
ID Code:8484
Deposited On:27 Oct 2010 06:27
Last Modified:30 May 2011 07:22

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