title: Genome analyses of single human oocytes.
abstract: Single-cell genome analyses of human oocytes are important for meiosis research and preimplantation genomic screening. However, the nonuniformity of single-cell whole-genome amplification hindered its use. Here, we demonstrate genome analyses of single human oocytes using multiple annealing and looping-based amplification cycle (MALBAC)-based sequencing technology. By sequencing the triads of the first and second polar bodies (PB1 and PB2) and the oocyte pronuclei from same female egg donors, we phase the genomes of these donors with detected SNPs and determine the crossover maps of their oocytes. Our data exhibit an expected crossover interference and indicate a weak chromatid interference. Further, the genome of the oocyte pronucleus, including information regarding aneuploidy and SNPs in disease-associated alleles, can be accurately deduced from the genomes of PB1 and PB2. The MALBAC-based preimplantation genomic screening in in vitro fertilization (IVF) enables accurate and cost-effective selection of normal fertilized eggs for embryo transfer.
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Hou
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Peking-Tsinghua Center for Life Science, Beijing 100084, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Fan
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Liying
authors.initials: L
authors.lastname: Yan
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Li
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lian
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Huang
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Jinsen
authors.initials: J
authors.lastname: Li
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
authors.forename: Liya
authors.initials: L
authors.lastname: Xu
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Ministry of Education Key Laboratory of Cell Proliferation and Differentiation, Beijing 100871, China. Electronic address: tangfuchou@pku.edu.cn.
authors.forename: Fuchou
authors.initials: F
authors.lastname: Tang
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address: xie@chemistry.harvard.edu.
authors.forename: X Sunney
authors.initials: XS
authors.lastname: Xie
authors.affiliation: Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China. Electronic address: jie.qiao@263.net.
authors.forename: Jie
authors.initials: J
authors.lastname: Qiao
mesh_terms: D000328:Adult; D000782:Aneuploidy; D001755:Blastocyst / Q000378:metabolism; D005260:Female; D005307:Fertilization in Vitro; D015894:Genome, Human; D006801:Humans; D009865:Oocytes / Q000378:metabolism*; D059705:Polar Bodies / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*; D059010:Single-Cell Analysis; D014019:Tissue Donors