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Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data
  1. Jun-Yu Ma1,
  2. Li-Ying Yan2,
  3. Zhen-Bo Wang3,
  4. Shi-Ming Luo1,
  5. William S B Yeung4,
  6. Xiang-Hong Ou1,
  7. Qing-Yuan Sun3,
  8. Jie Qiao2
  1. 1Fertility Preservation Lab, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, Guangzhou, China
  2. 2Center for Reproductive Medicine, Third Hospital, Peking University, Beijing, China
  3. 3State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China
  4. 4Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
  1. Correspondence to Professor Xiang-Hong Ou, Fertility Preservation Lab, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, Guangzhou, China; ouxianghong2003{at}163.com, Professor Qing-Yuan Sun, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; sunqy{at}ioz.ac.cn and Professor Jie Qiao, Center for Reproductive Medicine, Third Hospital, Peking University, Beijing, China; jie.qiao{at}263.net

Abstract

Background The human oocyte transmits one set of haploid genome into female pronucleus (FPN) while discards the remaining genome into the first polar body (PB1) and the second polar body (PB2). The FPN genome carries an assembly of maternal and paternal genome that resulted from homologous recombination during the prophase of the first meiosis. However, how parental genome has been shuffled and transmitted is difficult to assess by analysing only the progeny’s genome.

Objective To assess meiotic chromatid recombination and segregation in human oocytes.

Methods Single cell genome sequencing data of PB1, PB2 and FPN that originated from the same oocyte were used to analyse the human oocyte homologous chromosome interaction and segregation. To analyse whether chromosomes were non-randomly segregated into polar bodies or pronucleus, we analysed the ratio of crossover in PB2 and FPN, and constructed a model to detect the randomness of oocyte chromosome segregation.

Results We found that during oocyte meiosis, in addition to homologous chromosome recombination, there was also a genome conversion phenomenon which generated a non-reciprocal genetic information transmission between homologous chromosomes. We also inferred that during meiosis, DNA breaks and repairs frequently occurred at centromere-adjacent regions. From our data we did not find obvious evidence supporting the crossover number-based or SNP-based meiotic drive in oocytes.

Conclusion In addition to the crossover-based recombination, during human oocyte meiosis, a direct genome conversion between homologous chromosomes is used in some oocytes. Our findings are helpful in understanding the specific features of meiotic chromatid recombination and segregation in human oocytes.

  • meiosis
  • meiotic drive
  • human oocyte
  • polar body
  • female pronucleus

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Footnotes

  • Contributors Q-YS, JQ, X-HO and J-YM designed the study. L-YY collected the data. Z-BW, S-ML and J-YM analysed the data. Q-YS, WSBY and J-YM wrote the manuscript. J-YM submitted the study. Q-YS, JQ and X-HO are responsible for the overall content as guarantors.

  • Funding This work was supported by the National Basic Research Program of China (2011CB944500 and 2012CB944404) and the National Natural Science Foundation of China (31201078, 31401276 and 31471952).

  • Competing interests None declared.

  • Patient consent Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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