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, Housworth, Elizabeth, Herbert, Alex D, Rienzi, Laura, Ubaldi, Filippo M, Handyside, Alan H and Hoffmann, Eva R (2015) Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nature Genetics, 47. pp. 727-735. ISSN 1061-4036

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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
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Depositing User: Louise Newnham
Date Deposited: 15 Nov 2016 17:01
Last Modified: 15 Nov 2016 17:01
URI: http://sro.sussex.ac.uk/id/eprint/64993
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Project NameSussex Project NumberFunderFunder Ref
Identification of age-related and age-independent changes to meiotic chromosome structure and their association with aneuploidy in human oocytesG1507MRC-MEDICAL RESEARCH COUNCILMR/M000664/1