PMID: 9425594Jan 13, 1998Paper

Disorders of DNA replication and repair

Current Opinion in Pediatrics
A D Auerbach, P C Verlander

Abstract

Most of the genes involved in the pathogenesis of the DNA replication and repair syndromes have now been cloned, and our understanding of the basis for the pleiotropic phenotype associated with many of these syndromes has rapidly and dramatically expanded. The elucidation of the specific interactions between proteins that comprise the transcription factor complex TFIIH raises the possibility that nucleotide excision repair, RNA polymerase II transcription, and cell cycle control are connected. Defects in the XPB, XPD, and XPG genes can result in three different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on the specific mutation involved. The recent cloning of the genes involved in Bloom syndrome (BLM) and Werner syndrome (WRN) show that both are DNA and RNA helicases with homology to each other and to other DExH box helicases, yet the mechanism by which defects in these genes cause such different phenotypes is not yet understood. The ataxia-telangiectasia gene (ATM) is involved in a variety of signal transduction pathways that regulate the cellular response to normal proliferative stimuli as well as the response to DNA damage, and the disruption of these signal transduction pathways p...Continue Reading

Citations

Aug 16, 2000·Pediatric Clinics of North America·R Sidbury, A S Paller
May 29, 2002·Experimental Hematology·Helmut HanenbergArleen D Auerbach
Apr 25, 2002·Proceedings of the National Academy of Sciences of the United States of America·Karen M VasquezPeter M Glazer
Feb 28, 2002·Proceedings of the National Academy of Sciences of the United States of America·Shiquan LiuGlenn Merlino
Dec 6, 2012·Oxidative Medicine and Cellular Longevity·Juan Cristóbal Conde-PérezprinaMina Konigsberg
Apr 18, 2001·Chemistry & Biology·H Arthanari, P H Bolton
Mar 30, 2001·Nature Genetics·H Youssoufian
Feb 4, 2003·Nature Reviews. Cancer·Andrei V Gudkov, Elena A Komarova
Nov 7, 1998·Nature Genetics·J P de WinterH Joenje
Jun 11, 1999·Journal of Pediatric Hematology/oncology·R E GoldsbyC S Bruggers
Mar 19, 2003·Oncogene·Hasan SekerCurtis C Harris
Jul 3, 1999·The Journal of Biological Chemistry·Z DongP L Chen

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