Chromosome errors, or aneuploidy, affect an exceptionally high number of human conceptions, causing pregnancy loss and congenital disorders. Here, we have followed chromosome segregation in human oocytes from females aged 9 to 43 years and report that aneuploidy follows a U-curve. Specific segregation error types show different age dependencies, providing a quantitative explanation for the U-curve. Whole-chromosome nondisjunction events are preferentially associated with increased aneuploidy in young girls, whereas centromeric and more extensive cohesion loss limit fertility as women age. Our findings suggest that chromosomal errors originating in oocytes determine the curve of natural fertility in humans.

Chromosome errors in human eggs shape natural fertility over reproductive life span

Cimadomo D.;
2019-01-01

Abstract

Chromosome errors, or aneuploidy, affect an exceptionally high number of human conceptions, causing pregnancy loss and congenital disorders. Here, we have followed chromosome segregation in human oocytes from females aged 9 to 43 years and report that aneuploidy follows a U-curve. Specific segregation error types show different age dependencies, providing a quantitative explanation for the U-curve. Whole-chromosome nondisjunction events are preferentially associated with increased aneuploidy in young girls, whereas centromeric and more extensive cohesion loss limit fertility as women age. Our findings suggest that chromosomal errors originating in oocytes determine the curve of natural fertility in humans.
2019
Esperti anonimi
Inglese
365
6460
1466
1469
4
aneuploidies
30
info:eu-repo/semantics/article
262
Gruhn, J. R.; Zielinska, A. P.; Shukla, V.; Blanshard, R.; Capalbo, A.; Cimadomo, D.; Nikiforov, D.; Chan, A. C. -H.; Newnham, L. J.; Vogel, I.; Scari...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
none
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1531439
Citazioni
  • ???jsp.display-item.citation.pmc??? 236
  • Scopus 388
  • ???jsp.display-item.citation.isi??? 353
social impact