Telomere dysfunction in genome instability syndromes

Mutation Research
Elsa Callén, Jordi Surrallés

Abstract

Telomeres are nucleoprotein complexes located at the end of eukaryotic chromosomes. They have essential roles in preventing terminal fusions, protecting chromosome ends from degradation, and in chromosome positioning in the nucleus. These terminal structures consist of a tandemly repeated DNA sequence (TTAGGG in vertebrates) that varies in length from 5 to 15 kb in humans. Several proteins are attached to this telomeric DNA, some of which are also involved in different DNA damage response pathways, including Ku80, Mre11, NBS and BLM, among others. Mutations in the genes encoding these proteins cause a number of rare genetic syndromes characterized by chromosome and/or genetic instability and cancer predisposition. Deletions or mutations in any of these genes may also cause a telomere defect resulting in accelerated telomere shortening, lack of end-capping function, and/or end-to-end chromosome fusions. This telomere phenotype is also known to promote chromosomal instability and carcinogenesis. Therefore, it is essential to understand the interplay between telomere biology and genome stability. This review is focused in the dual role of chromosome fragility proteins in telomere maintenance.

References

Nov 1, 1992·Molecular and Cellular Biology·Z ZhongT de Lange
Nov 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·R C AllsoppC B Harley
Jul 1, 1992·Experimental Gerontology·C B HarleyR C Allsopp
Dec 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·A DvirW S Dynan
May 1, 1992·The American Journal of Pediatric Hematology/oncology·C A Strathdee, M Buchwald
Jun 20, 1992·Journal of Molecular Biology·M Z LevyC B Harley
Mar 1, 1991·Mutation Research·C B Harley
Feb 1, 1992·Genes & Development·J H WrightV A Zakian
Jan 1, 1991·Mutation Research·J LindseyH J Cooke
Dec 1, 1990·Molecular and Cellular Biology·T CarterS DeLeon
Feb 1, 1990·Molecular and Cellular Biology·T de LangeH E Varmus
May 31, 1990·Nature·C B HarleyC W Greider
Aug 30, 1990·Nature·N D HastieR C Allshire
May 1, 1989·Human Genetics·B R Young, R B Painter
Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·K FukuchiR J Monnat
Jan 1, 1989·Molecular and Cellular Biology·E R Henderson, E H Blackburn
Sep 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·R K MoyzisJ R Wu
Apr 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·E H Blackburn, S S Chiou
Sep 1, 1995·Science·J FengJ Yu
Jan 1, 1995·Cytogenetics and Cell Genetics·T K PanditaC R Geard
Jan 3, 1995·Proceedings of the National Academy of Sciences of the United States of America·P A KrukV A Bohr
Oct 11, 1994·Proceedings of the National Academy of Sciences of the United States of America·H VaziriP M Lansdorp
Apr 12, 1994·Proceedings of the National Academy of Sciences of the United States of America·C M CounterC B Harley
Nov 19, 1993·Cell·L L Sandell, V A Zakian
May 3, 1996·Cell·R J WellingerV A Zakian
Jul 1, 1996·Nature Genetics·J A MetcalfeA M Taylor
Jul 12, 1996·Cell·C BarlowA Wynshaw-Boris
Oct 10, 1996·Experimental Cell Research·A G BodnarC P Chiu
Feb 1, 1996·Journal of Medical Genetics·I van der BurgtC Weemaes
Jan 1, 1997·Clinical Immunology and Immunopathology·K E SullivanS P Lees-Miller
Feb 20, 1997·Nature·B van Steensel, T de Lange

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Citations

Nov 26, 2008·Journal of Applied Genetics·Kamila CzornakKrystyna H Chrzanowska
May 20, 2008·Human Molecular Genetics·Massimo ManginoNilesh J Samani
Aug 24, 2012·Journal of the National Cancer Institute·Shyng-Shiou F YuanSteven Lo
Mar 4, 2011·Biological Procedures Online·Nathan J O'Callaghan, Michael Fenech
Jul 8, 2010·Journal of Cell Science·Erica K BensonStuart A Aaronson
May 22, 2013·PloS One·Domenico La TorreAntonino Germanò
Mar 14, 2014·PloS One·Jennifer Moreno-PalomoAlba Hernández
Feb 14, 2014·The Journal of Nutrition, Health & Aging·N J O'CallaghanM Fenech
Oct 4, 2011·Clinical Nutrition : Official Journal of the European Society of Parenteral and Enteral Nutrition·Nathan J O'CallaghanMichael A Conlon
Sep 24, 2011·Mutation Research·Razinah SharifMichael Fenech
Aug 31, 2010·Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft·Thomas KlonischSabine Mai
May 26, 2009·Mutation Research·Kornelia NevelingDetlev Schindler
Oct 27, 2015·Genetic Testing and Molecular Biomarkers·Ayse Tarbin JannuzziGül Özhan
Dec 8, 2007·Mechanisms of Ageing and Development·Predrag Slijepcevic
Jul 3, 2007·Toxicology Letters·M CastellaJ Surralles
Apr 24, 2007·Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]·Mansher Singh, Anirban Maitra
Jul 22, 2006·International Journal of Cancer. Journal International Du Cancer·Marco BisoffiJeffrey K Griffith
Dec 18, 2008·International Journal of Cancer. Journal International Du Cancer·Jing ShenRegina M Santella
Nov 9, 2011·Depression and Anxiety·Stefanie MalanSoraya Seedat
Jul 29, 2008·Biochemical Pharmacology·David A GewirtzLynne W Elmore
Apr 8, 2006·Critical Reviews in Oncology/hematology·Charles Edward Jefford, Irmgard Irminger-Finger
Feb 24, 2006·Mutation Research·Alejandro D Bolzán, Martha S Bianchi
Jan 17, 2015·Nutrition·Elizabeth MilneMichael Fenech
Feb 5, 2008·Critical Reviews in Oncology/hematology·Christophe Michel RaynaudJean-Charles Soria
Oct 31, 2013·International Journal of Radiation Biology·Francesco BerardinelliAntonio Antoccia
Apr 5, 2015·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·Bing SunYun-Ling Zheng
Jun 9, 2012·Mutation Research·Eileen PernotElisabeth Cardis
Dec 1, 2007·Biochimica Et Biophysica Acta·Alessandra MasciPaolo Sarti
Jun 24, 2016·Genetic Testing and Molecular Biomarkers·Ezgi OztasGul Ozhan

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