Diseases Associated with Mutation of Replication and Repair Proteins

被引:5
作者
Cotterill, Sue [1 ]
机构
[1] St Georges Univ London, London, England
来源
DROSOPHILA MODELS FOR HUMAN DISEASES | 2018年 / 1076卷
关键词
DNA replication; DNA repair; Disease; Drosophila; DNA-REPAIR; DROSOPHILA-MELANOGASTER; S PHASE; COMPLEX; GENE; RECOMBINATION; INSIGHTS; MUTANTS; DEFECTS; REVEALS;
D O I
10.1007/978-981-13-0529-0_12
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Alterations in proteins that function in DNA replication and repair have been implicated in the development of human diseases including cancer, premature ageing, skeletal disorders, mental retardation, microcephaly, and neurodegeneration. Drosophila has orthologues of most human replication and repair proteins and high conservation of the relevant cellular pathways, thus providing a versatile system in which to study how these pathways are corrupted leading to the diseased state. In this chapter I will briefly review the diseases associated with defects in replication and repair proteins and discuss how past and future studies on the Drosophila orthologues of such proteins can contribute to the dissection of the mechanisms involved in disease development.
引用
收藏
页码:215 / 234
页数:20
相关论文
共 81 条
[1]   Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway [J].
Alderton, GK ;
Joenje, H ;
Varon, R ;
Borglum, AD ;
Jeggo, PA ;
O'Driscoll, M .
HUMAN MOLECULAR GENETICS, 2004, 13 (24) :3127-3138
[2]  
[Anonymous], COLD SPRING HARB PER
[3]   ATM and ATR signaling at a glance (vol 128, pg 4255, 2015) [J].
Awasthi, Poorwa ;
Foiani, Marco ;
Kumar, Amit .
JOURNAL OF CELL SCIENCE, 2016, 129 (06) :1285-1285
[4]   GENETIC-CONTROLS OF MEIOTIC RECOMBINATION AND SOMATIC DNA METABOLISM IN DROSOPHILA-MELANOGASTER [J].
BAKER, BS ;
BOYD, JB ;
CARPENTER, ATC ;
GREEN, MM ;
NGUYEN, TD ;
RIPOLL, P ;
SMITH, PD .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1976, 73 (11) :4140-4144
[5]   Hypomorphic PCNA mutation underlies a human DNA repair disorder [J].
Baple, Emma L. ;
Chambers, Helen ;
Cross, Harold E. ;
Fawcett, Heather ;
Nakazawa, Yuka ;
Chioza, Barry A. ;
Harlalka, Gaurav V. ;
Mansour, Sahar ;
Sreekantan-Nair, Ajith ;
Patton, Michael A. ;
Muggenthaler, Martina ;
Rich, Phillip ;
Wagner, Karin ;
Coblentz, Roselyn ;
Stein, Constance K. ;
Last, James I. ;
Taylor, A. Malcolm R. ;
Jackson, Andrew P. ;
Ogi, Tomoo ;
Lehmann, Alan R. ;
Green, Catherine M. ;
Crosby, Andrew H. .
JOURNAL OF CLINICAL INVESTIGATION, 2014, 124 (07) :3137-3146
[6]   Mutations in the pre-replication complex cause Meier-Gorlin syndrome [J].
Bicknell, Louise S. ;
Bongers, Ernie M. H. F. ;
Leitch, Andrea ;
Brown, Stephen ;
Schoots, Jeroen ;
Harley, Margaret E. ;
Aftimos, Salim ;
Al-Aama, Jumana Y. ;
Bober, Michael ;
Brown, Paul A. J. ;
van Bokhoven, Hans ;
Dean, John ;
Edrees, Alaa Y. ;
Feingold, Murray ;
Fryer, Alan ;
Hoefsloot, Lies H. ;
Kau, Nikolaus ;
Knoers, Nine V. A. M. ;
MacKenzie, James ;
Opitz, John M. ;
Sarda, Pierre ;
Ross, Alison ;
Temple, I. Karen ;
Toutain, Annick ;
Wise, Carol A. ;
Wright, Michael ;
Jackson, Andrew P. .
NATURE GENETICS, 2011, 43 (04) :356-+
[7]   ATM, ATR, and DNA-PK: The Trinity at the Heart of the DNA Damage Response [J].
Blackford, Andrew N. ;
Jackson, Stephen P. .
MOLECULAR CELL, 2017, 66 (06) :801-817
[8]   New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family [J].
Bouali, Nouha ;
Francou, Bruno ;
Bouligand, Jerome ;
Imanci, Dilek ;
Dirnassi, Sarra ;
Tosca, Lucie ;
Zaouali, Mania ;
Mougou, Soumaya ;
Young, Jacques ;
Saad, Ali ;
Mantel, Anne Guiochon .
FERTILITY AND STERILITY, 2017, 108 (04) :694-702
[9]  
BOYD JB, 1976, GENETICS, V84, P485
[10]  
BOYD JB, 1981, GENETICS, V97, P607