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 / 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.; Scarica, C.; Krapchev, M.; Taylor, D.; Kristensen, S. G.; Cheng, J.; Ernst, E.; Bjorn, A. -M. B.; Colmorn, L. B.; Blayney, M.; Elder, K.; Liss, J.; Hartshorne, G.; Grondahl, M. L.; Rienzi, L.; Ubaldi, F.; Mccoy, R.; Lukaszuk, K.; Andersen, C. Y.; Schuh, M.; Hoffmann, E. R.. - In: SCIENCE. - ISSN 0036-8075. - 365:6460(2019), pp. 1466-1469. [10.1126/science.aav7321]
Chromosome errors in human eggs shape natural fertility over reproductive life span
Capalbo A.;Cimadomo D.;Scarica C.;
2019
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
