Document Detail

Molecular basis of maternal age-related increase in oocyte aneuploidy.
MedLine Citation:
PMID:  22348779     Owner:  NLM     Status:  In-Data-Review    
Aneuploidy is one of the most common and serious pregnancy complications in humans. Most conceptuses with autosomal aneuploidy die in utero, resulting in early pregnancy loss. However, some fetuses with aneuploidy survive to term but suffer from disorders associated with congenital anomalies and mental retardation, such as Down syndrome with trisomy 21. Three general characteristics of this condition are well acknowledged: (i) in most cases the extra chromosome is of maternal origin; (ii) most cases are derived from a malsegregation event in meiosis I; and (iii) the frequency of these errors increases with maternal age. The basis for the age-dependent increase in meiosis I errors has been a long-standing enigma. Many investigators have addressed the nature of this biological phenomenon through genomic analyses of extra chromosome 21 using polymorphic markers to determine the frequency or location of crossovers that should ensure faithful chromosome segregation. Cytogenetic analyses of in vitro unfertilized oocytes have also been performed. However, no definitive conclusions regarding meiosis I errors have yet been reached from such studies. Recent findings in conditional knock-out mice for meiosis-specific cohesin have shed further light on this issue. The present review focuses on the current understanding of age-related aneuploidy and provides an overview of the mechanisms involved. We refer to recent data to illustrate some of the new paradigms that have arisen in this field.
Hiroki Kurahashi; Makiko Tsutsumi; Sachie Nishiyama; Hiroshi Kogo; Hidehito Inagaki; Tamae Ohye
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Congenital anomalies     Volume:  52     ISSN:  1741-4520     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-02-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  8-15     Citation Subset:  IM    
Copyright Information:
© 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
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