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Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

journal contribution
posted on 2023-06-09, 03:41 authored by Christian S Ottolini, Louise J Newnham, Antonio Capalbo, Senthilkumar A Natesan, Hrishikesh A Joshi, Danilo Cimadomo, Darren K Griffin, Karen Sage, Michael C Summers, Alan R Thornhill, Elizabeth Housworth, Alex D Herbert, Laura Rienzi, Filippo M Ubaldi, Alan H Handyside, Eva R Hoffmann
Crossover recombination reshuffles genes and prevents errors in segregation that lead to extra or missing chromosomes (aneuploidy) in human eggs, a major cause of pregnancy failure and congenital disorders. Here we generate genome-wide maps of crossovers and chromosome segregation patterns by recovering all three products of single female meioses. Genotyping >4 million informative SNPs from 23 complete meioses allowed us to map 2,032 maternal and 1,342 paternal crossovers and to infer the segregation patterns of 529 chromosome pairs. We uncover a new reverse chromosome segregation pattern in which both homologs separate their sister chromatids at meiosis I; detect selection for higher recombination rates in the female germ line by the elimination of aneuploid embryos; and report chromosomal drive against non-recombinant chromatids at meiosis II. Collectively, our findings show that recombination not only affects homolog segregation at meiosis I but also the fate of sister chromatids at meiosis II.

Funding

Identification of age-related and age-independent changes to meiotic chromosome structure and their association with aneuploidy in human oocytes; G1507; MRC-MEDICAL RESEARCH COUNCIL; MR/M000664/1

History

Publication status

  • Published

Journal

Nature Genetics

ISSN

1061-4036

Publisher

Nature Publishing Group

Volume

47

Page range

727-735

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2016-11-15

First Open Access (FOA) Date

2016-11-15

First Compliant Deposit (FCD) Date

2016-10-24

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