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

Jennifer R Gruhn; Agata P Zielinska; Vallari Shukla; Robert Blanshard; Antonio Capalbo; Danilo Cimadomo; Dmitry Nikiforov; Andrew Chi-Ho Chan; Louise J Newnham; Ivan Vogel; Catello Scarica; Marta Krapchev; Deborah Taylor; Stine Gry Kristensen; Junping Cheng; Erik Ernst; Anne-Mette Bay Bjørn; Lotte Berdiin Colmorn; Martyn Blayney; Kay Elder; Joanna Liss; Geraldine Hartshorne; Marie Louise Grøndahl; Laura Rienzi; Filippo Ubaldi; Rajiv McCoy; Krzysztof Lukaszuk; Claus Yding Andersen; Melina Schuh; Eva R Hoffmann

doi:10.1126/science.aav7321

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

Jennifer R Gruhn, Agata P Zielinska, Vallari Shukla, Robert Blanshard, Antonio Capalbo, Danilo Cimadomo, Dmitry Nikiforov, Andrew Chi-Ho Chan, Louise J Newnham, Ivan Vogel, Catello Scarica, Marta Krapchev, Deborah Taylor, Stine Gry Kristensen, Junping Cheng, Erik Ernst, Anne-Mette Bay Bjørn, Lotte Berdiin Colmorn, Martyn Blayney, Kay ElderJoanna Liss, Geraldine Hartshorne, Marie Louise Grøndahl, Laura Rienzi, Filippo Ubaldi, Rajiv McCoy, Krzysztof Lukaszuk, Claus Yding Andersen, Melina Schuh, Eva R Hoffmann

45 Citations (Scopus)

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.

Original language	English
Journal	Science (New York, N.Y.)
Volume	365
Issue number	6460
Pages (from-to)	1466-1469
Number of pages	4
ISSN	0036-8075
DOIs	https://doi.org/10.1126/science.aav7321
Publication status	Published - 27 Sept 2019

Access to Document

10.1126/science.aav7321

Cite this

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., Bjørn, A-M. B., Colmorn, L. B., Blayney, M., ... Hoffmann, E. R. (2019). Chromosome errors in human eggs shape natural fertility over reproductive life span. Science (New York, N.Y.), 365(6460), 1466-1469. https://doi.org/10.1126/science.aav7321

Gruhn, JR, Zielinska, AP, Shukla, V, Blanshard, R, Capalbo, A, Cimadomo, D, Nikiforov, D, Chan, AC-H, Newnham, LJ, Vogel, I, Scarica, C, Krapchev, M, Taylor, D, Kristensen, SG, Cheng, J, Ernst, E, Bjørn, A-MB, Colmorn, LB, Blayney, M, Elder, K, Liss, J, Hartshorne, G, Grøndahl, ML, Rienzi, L, Ubaldi, F, McCoy, R, Lukaszuk, K, Andersen, CY, Schuh, M & Hoffmann, ER 2019, 'Chromosome errors in human eggs shape natural fertility over reproductive life span', Science (New York, N.Y.), vol. 365, no. 6460, pp. 1466-1469. https://doi.org/10.1126/science.aav7321

@article{4c3dace8381c439e8a2fc10c9a5b78ab,

title = "Chromosome errors in human eggs shape natural fertility over reproductive life span",

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.",

author = "Gruhn, {Jennifer R} and Zielinska, {Agata P} and Vallari Shukla and Robert Blanshard and Antonio Capalbo and Danilo Cimadomo and Dmitry Nikiforov and Chan, {Andrew Chi-Ho} and Newnham, {Louise J} and Ivan Vogel and Catello Scarica and Marta Krapchev and Deborah Taylor and Kristensen, {Stine Gry} and Junping Cheng and Erik Ernst and Bj{\o}rn, {Anne-Mette Bay} and Colmorn, {Lotte Berdiin} and Martyn Blayney and Kay Elder and Joanna Liss and Geraldine Hartshorne and Gr{\o}ndahl, {Marie Louise} and Laura Rienzi and Filippo Ubaldi and Rajiv McCoy and Krzysztof Lukaszuk and Andersen, {Claus Yding} and Melina Schuh and Hoffmann, {Eva R}",

note = "Copyright {\textcopyright} 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.",

year = "2019",

month = sep,

day = "27",

doi = "10.1126/science.aav7321",

language = "English",

volume = "365",

pages = "1466--1469",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "6460",

}

TY - JOUR

T1 - Chromosome errors in human eggs shape natural fertility over reproductive life span

AU - Gruhn, Jennifer R

AU - Zielinska, Agata P

AU - Shukla, Vallari

AU - Blanshard, Robert

AU - Capalbo, Antonio

AU - Cimadomo, Danilo

AU - Nikiforov, Dmitry

AU - Chan, Andrew Chi-Ho

AU - Newnham, Louise J

AU - Vogel, Ivan

AU - Scarica, Catello

AU - Krapchev, Marta

AU - Taylor, Deborah

AU - Kristensen, Stine Gry

AU - Cheng, Junping

AU - Ernst, Erik

AU - Bjørn, Anne-Mette Bay

AU - Colmorn, Lotte Berdiin

AU - Blayney, Martyn

AU - Elder, Kay

AU - Liss, Joanna

AU - Hartshorne, Geraldine

AU - Grøndahl, Marie Louise

AU - Rienzi, Laura

AU - Ubaldi, Filippo

AU - McCoy, Rajiv

AU - Lukaszuk, Krzysztof

AU - Andersen, Claus Yding

AU - Schuh, Melina

AU - Hoffmann, Eva R

PY - 2019/9/27

Y1 - 2019/9/27

N2 - 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.

AB - 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.

U2 - 10.1126/science.aav7321

DO - 10.1126/science.aav7321

M3 - Journal article

C2 - 31604276

SN - 0036-8075

VL - 365

SP - 1466

EP - 1469

JO - Science

JF - Science

IS - 6460

ER -

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

Abstract

Access to Document

Fingerprint

Cite this