Skip to main content

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

Ottolini, Christian S, Newnham, Louise J, Capalbo, Antonio, Natesan, Senthilkumar A, Joshi, Hrishikesh A, Cimadomo, Danilo, Griffin, Darren K., Sage, Karen, Summers, Michael C, Thornhill, Alan R, and others. (2015) Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nature Genetics, 47 (7). pp. 727-735. ISSN 1061-4036. (doi:10.1038/ng.3306) (KAR id:59356)

PDF Author's Accepted Manuscript
Language: English
Download (1MB) Preview
[thumbnail of Ottolin et al 2015, Nat. Geneti, 47, 727-35 - version submitted to Nature Genetics.pdf]
Preview
This file may not be suitable for users of assistive technology.
Request an accessible format
Official URL
http://doi.org/10.1038/ng.3306

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.

Item Type: Article
DOI/Identification number: 10.1038/ng.3306
Subjects: Q Science
Divisions: Divisions > Division of Natural Sciences > School of Biosciences
Depositing User: Susan Davies
Date Deposited: 01 Dec 2016 15:17 UTC
Last Modified: 06 Feb 2020 10:48 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/59356 (The current URI for this page, for reference purposes)
Griffin, Darren K.: https://orcid.org/0000-0001-7595-3226
  • Depositors only (login required):

Downloads

Downloads per month over past year