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ArtikelGenome-Wide Maps of Recombination and Chromosome Segregation in Human Oocytes and Embryos Show Selection for Maternal Recombination Rates  
Oleh: Ottolini, Christian S. ; Newnham, Louise J. ; Capalbo, Antonio ; Natesan, Senthilkumar A. ; Joshi, Hrishikesh A. ; Cimadomo, Danilo
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 47 no. 07 (Jul. 2015), page 727-735.
Topik: Cell Biology; Genetics Research; Oogenesis; Personalized Medicine
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    • Nomor Panggil: N12.K
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Isi artikelCrossover 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.
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