Maternal origin of the human aneuploidies. Are homolog synapsis and recombination to blame? Notes (learned) from the underbelly Journal Article


Authors: Garcia-Cruz, R.; Roig, I.; Caldés, M. G.
Article Title: Maternal origin of the human aneuploidies. Are homolog synapsis and recombination to blame? Notes (learned) from the underbelly
Abstract: Aneuploidy is the leading cause of mental deficiency in human newborns. Indirect studies suggest that, in most of the cases, the extra chromosome comes from an inaccurate meiotic division. But, particularly, all results seem to indicate that oogenesis is more prone to err than is spermatogenesis. Unfortunately, due to the time-frame in which meiosis takes place in the mammalian males and females, most of the studies performed so far have focused on analyzing male meiosis. Recently, some studies focusing on human meiosis have been published. Some of them revealed important sex-specific differences that may be involved in the predominant involvement of the human female in the genesis of aneuploidy. In this article, the current knowledge we have about human female meiotic synapsis and recombination is summarized and we try to relate it to the human aneuploidy origin. Copyright 2009 © S. Karger AG.
Keywords: unclassified drug; genetics; review; oocyte; pachytene; spermatocyte; mammalia; nuclear protein; genetic variability; nuclear proteins; genetic recombination; recombination, genetic; adaptor proteins, signal transducing; x chromosome; sex difference; chromosome analysis; chromosomes, human; signal transducing adaptor protein; protein mlh1; mlh1 protein, human; aneuploidy; chromosome 13; chromosome 18; chromosome 21; chromosome chiasm; chromosome pairing; human chromosome; mother; synapsis; mothers
Journal Title: Genome Dynamics
Volume: 5
ISSN: 1660-9263
Publisher: S. Karger AG  
Date Published: 2009-01-01
Start Page: 128
End Page: 136
Language: English
DOI: 10.1159/000166638
PUBMED: 18948712
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 4" - "Export Date: 30 November 2010" - "Source: Scopus"
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