Genome destabilization by homologous recombination in the germ line

被引:167
作者
Sasaki, Mariko [1 ,2 ]
Lange, Julian [1 ]
Keeney, Scott [1 ,2 ,3 ]
机构
[1] Mem Sloan Kettering Canc Ctr, Program Mol Biol, New York, NY 10065 USA
[2] Cornell Univ, Weill Grad Sch Med Sci, New York, NY 10065 USA
[3] Howard Hughes Med Inst, New York, NY 10065 USA
基金
美国国家卫生研究院;
关键词
HUMAN Y-CHROMOSOME; DOUBLE-STRAND BREAKS; MISMATCH REPAIR PROTEINS; MEIOTIC RECOMBINATION; GENE CONVERSION; HOT-SPOTS; COPY-NUMBER; INTRACHROMOSOMAL RECOMBINATION; SEGMENTAL DUPLICATIONS; ECTOPIC RECOMBINATION;
D O I
10.1038/nrm2849
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Meiotic recombination, which promotes proper homologous chromosome segregation at the first meiotic division, normally occurs between allelic sequences on homologues. However, recombination can also take place between non-allelic DNA segments that share high sequence identity. Such non-allelic homologous recombination (NAHR) can markedly alter genome architecture during gametogenesis by generating chromosomal rearrangements. Indeed, NAHR-mediated deletions, duplications, inversions and other alterations have been implicated in numerous human genetic disorders. Studies in yeast have provided insights into the molecular mechanisms of meiotic NAHR as well as the cellular strategies that limit it.
引用
收藏
页码:182 / 195
页数:14
相关论文
共 154 条
[1]   Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations [J].
Agulnik, AI ;
Zharkikh, A ;
Boettger-Tong, H ;
Bourgeron, T ;
McElreavey, K ;
Bishop, CE .
HUMAN MOLECULAR GENETICS, 1998, 7 (09) :1371-1377
[2]   Human spermatozoa: The future of sex [J].
Aitken, RJ ;
Graves, JAM .
NATURE, 2002, 415 (6875) :963-963
[3]   Differential timing and control of noncrossover and crossover recombination during meiosis [J].
Allers, T ;
Lichten, M .
CELL, 2001, 106 (01) :47-57
[4]  
Anderson LK, 1999, GENETICS, V151, P1569
[5]   Molecular aspects of meiotic chromosome synapsis and recombination [J].
Anuradha, S ;
Muniyappa, K .
PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, VOL 79, 2005, 79 :49-132
[6]   A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations [J].
Aradhya, S ;
Woffendin, H ;
Jakins, T ;
Bardaro, T ;
Esposito, T ;
Smahi, A ;
Shaw, C ;
Levy, M ;
Munnich, A ;
D'Urso, M ;
Lewis, RA ;
Kenwrick, S ;
Nelson, DL .
HUMAN MOLECULAR GENETICS, 2001, 10 (19) :2171-2179
[7]   Recent segmental duplications in the human genome [J].
Bailey, JA ;
Gu, ZP ;
Clark, RA ;
Reinert, K ;
Samonte, RV ;
Schwartz, S ;
Adams, MD ;
Myers, EW ;
Li, PW ;
Eichler, EE .
SCIENCE, 2002, 297 (5583) :1003-1007
[8]   Primate segmental duplications: crucibles of evolution, diversity and disease [J].
Bailey, Jeffrey A. ;
Eichler, Evan E. .
NATURE REVIEWS GENETICS, 2006, 7 (07) :552-564
[9]   Meiotic recombination at the ends of chromosomes in Saccharomyces cerevisiae [J].
Barton, Arnold B. ;
Pekosz, Michael R. ;
Kurvathi, Rohini S. ;
Kaback, David B. .
GENETICS, 2008, 179 (03) :1221-1235
[10]   Alu repeats and human genomic diversity [J].
Batzer, MA ;
Deininger, PL .
NATURE REVIEWS GENETICS, 2002, 3 (05) :370-379