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Is germline transmission of MAD2 gene deletion associated with human fetal loss?

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Title Is germline transmission of MAD2 gene deletion associated with human fetal loss?
 
Creator Nath, Somsubhra
Moghe, Mrinalini
Chowdhury, Abhishek
Godbole, Koumudi
Godbole, Girish
Doiphode, Manisha
Roychoudhury, Susanta
 
Subject Cancer Biology and Inflammatory Disorder Division
 
Description The spindle assembly checkpoint (SAC) monitors proper attachment of spindles to the kinetochore during mitotic and
meiotic cell divisions and thus prevents aneuploidy. Chromosomal aneuploidy has been found to be associated with pregnancy loss and birth defects. Mad2 is one of the critical molecules of SAC. Deregulated Mad2 expression has been found to be associated with defective SAC-mediated abnormal meiotic progression in cell studies using animal models. Whether mutation in MAD2L1 is associated with the loss of Mad2 expression in aborted human fetuses is unknown. In this study, a correlation between aneuploidy and MAD2 defect was examined in primary fibroblast cultures obtained from abortuses.We report three trisomic abortuses with undetectable Mad2 expression. Further, quantitative
real-time PCR revealed copy number deletion of MAD2 gene in these fetuses. Analysis of parental DNA samples available from two families revealed copy number loss of the same gene, suggesting Mendelian inheritance of MAD2 deletion. This germline transmission of exonic deletion of MAD2 is possibly associated with its loss of expression resulting in abnormal SAC function, subsequent aneuploidy and pregnancy loss.
 
Publisher Oxford University Press
 
Date 2012
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/2277/1/MOLECULAR_HUMAN_REPRODUCTION__V._18_(_11)_554%2D562_;2012.pdf
Nath, Somsubhra and Moghe, Mrinalini and Chowdhury, Abhishek and Godbole, Koumudi and Godbole, Girish and Doiphode, Manisha and Roychoudhury, Susanta (2012) Is germline transmission of MAD2 gene deletion associated with human fetal loss? Molecular Human Reproduction, 18 (11). pp. 554-562.
 
Relation http://dx.doi.org/10.1093/molehr/gas031
http://www.eprints.iicb.res.in/2277/