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Nat Genet. 2015 Jul;47(7):727-735. doi: 10.1038/ng.3306. Epub 2015 May 18.

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

Author information

1
The Bridge Centre, London, UK.
2
School of Biosciences, University of Kent, Canterbury, UK.
3
Genome Damage and Stability Centre, School of Life Sciences, University of Sussex, Brighton, UK.
4
G.E.N.E.R.A., Centers for Reproductive Medicine, Rome, Italy.
5
Illumina, Capital Park CPC4, Fulbourn, Cambridge, UK.
6
Department of Mathematics and Statistics, University of Indiana, Bloomington, Indiana, US.
7
Institute of Integrative and Comparative Biology, University of Leeds, Leeds, UK.
#
Contributed equally

Abstract

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.

PMID:
25985139
PMCID:
PMC4770575
DOI:
10.1038/ng.3306
[Indexed for MEDLINE]
Free PMC Article

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