Human aneuploidy: mechanisms and new insights into an age-old problem

被引:720
作者
Nagaoka, So I. [1 ]
Hassold, Terry J. [1 ]
Hunt, Patricia A. [1 ]
机构
[1] Washington State Univ, Sch Mol Biosci, Ctr Reprod Biol, Pullman, WA 99164 USA
基金
美国国家卫生研究院;
关键词
SPINDLE-ASSEMBLY CHECKPOINT; BISPHENOL-A EXPOSURE; EMBRYONIC STEM-CELLS; PREIMPLANTATION GENETIC DIAGNOSIS; 1ST MEIOTIC DIVISION; PROPHASE-I ARREST; MATERNAL AGE; HUMAN OOCYTES; MEIOSIS-I; GERM-CELLS;
D O I
10.1038/nrg3245
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Trisomic and monosomic (aneuploid) embryos account for at least 10% of human pregnancies and, for women nearing the end of their reproductive lifespan, the incidence may exceed 50%. The errors that lead to aneuploidy almost always occur in the oocyte but, despite intensive investigation, the underlying molecular basis has remained elusive. Recent studies of humans and model organisms have shed new light on the complexity of meiotic defects, providing evidence that the age-related increase in errors in the human female is not attributable to a single factor but to an interplay between unique features of oogenesis and a host of endogenous and exogenous factors.
引用
收藏
页码:493 / 504
页数:12
相关论文
共 134 条
[1]   In vitro post-meiotic germ cell development from human embryonic stem cells [J].
Aflatoonian, B. ;
Ruban, L. ;
Jones, M. ;
Aflatoonian, R. ;
Fazeli, A. ;
Moore, H. D. .
HUMAN REPRODUCTION, 2009, 24 (12) :3150-3159
[2]   Bisphenol A impairs the double-strand break repair machinery in the germline and causes chromosome abnormalities [J].
Allard, Patrick ;
Colaiacovo, Monica P. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (47) :20405-20410
[3]  
ANGELL RR, 1991, HUM GENET, V86, P383
[4]   1ST MEIOTIC DIVISION ABNORMALITIES IN HUMAN OOCYTES - MECHANISM OF TRISOMY FORMATION [J].
ANGELL, RR ;
XIAN, J ;
KEITH, J ;
LEDGER, W ;
BAIRD, DT .
CYTOGENETICS AND CELL GENETICS, 1994, 65 (03) :194-202
[5]  
[Anonymous], 2009, Obstet Gynecol, V113, P766, DOI 10.1097/AOG.0b013e31819e9f05
[6]   Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis [J].
Baarends, WM ;
Wassenaar, E ;
van der Laan, R ;
Hoogerbrugge, J ;
Sleddens-Linkels, E ;
Hoeijmakers, JHJ ;
de Boer, P ;
Grootegoed, JA .
MOLECULAR AND CELLULAR BIOLOGY, 2005, 25 (03) :1041-1053
[7]   Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo:: a randomized controlled trial [J].
Baart, Esther B. ;
Martini, Elena ;
Eijkemans, Marinus J. ;
Van Opstal, Diane ;
Beckers, Nicole G. M. ;
Verhoeff, Arie ;
Macklon, Nicolas S. ;
Fauser, Bart C. J. M. .
HUMAN REPRODUCTION, 2007, 22 (04) :980-988
[8]   A dominant, recombination-defective allele of Dmc1 causing male-specific sterility [J].
Bannister, Laura A. ;
Pezza, Roberto J. ;
Donaldson, Janet R. ;
de Rooij, Dirk G. ;
Schimenti, Kerry J. ;
Camerini-Otero, R. Daniel ;
Schimenti, John C. .
PLOS BIOLOGY, 2007, 5 (05) :1016-1025
[9]  
Battaglia DE, 1996, HUM REPROD, V11, P2217
[10]   Chromosome synapsis defects and sexually dimorphic meiotic progression in mice lacking Spo11 [J].
Baudat, F ;
Manova, K ;
Yuen, JP ;
Jasin, M ;
Keeney, S .
MOLECULAR CELL, 2000, 6 (05) :989-998