title: Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing.
abstract: Meiotic recombination creates genetic diversity and ensures segregation of homologous chromosomes. Previous population analyses yielded results averaged among individuals and affected by evolutionary pressures. We sequenced 99 sperm from an Asian male by using the newly developed amplification method-multiple annealing and looping-based amplification cycles-to phase the personal genome and map recombination events at high resolution, which are nonuniformly distributed across the genome in the absence of selection pressure. The paucity of recombination near transcription start sites observed in individual sperm indicates that such a phenomenon is intrinsic to the molecular mechanism of meiosis. Interestingly, a decreased crossover frequency combined with an increase of autosomal aneuploidy is observable on a global per-sperm basis.
authors.affiliation: Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
authors.forename: Sijia
authors.initials: S
authors.lastname: Lu
authors.forename: Chenghang
authors.initials: C
authors.lastname: Zong
authors.forename: Wei
authors.initials: W
authors.lastname: Fan
authors.forename: Mingyu
authors.initials: M
authors.lastname: Yang
authors.forename: Jinsen
authors.initials: J
authors.lastname: Li
authors.forename: Alec R
authors.initials: AR
authors.lastname: Chapman
authors.forename: Ping
authors.initials: P
authors.lastname: Zhu
authors.forename: Xuesong
authors.initials: X
authors.lastname: Hu
authors.forename: Liya
authors.initials: L
authors.lastname: Xu
authors.forename: Liying
authors.initials: L
authors.lastname: Yan
authors.forename: Fan
authors.initials: F
authors.lastname: Bai
authors.forename: Jie
authors.initials: J
authors.lastname: Qiao
authors.forename: Fuchou
authors.initials: F
authors.lastname: Tang
authors.forename: Ruiqiang
authors.initials: R
authors.lastname: Li
authors.forename: X Sunney
authors.initials: XS
authors.lastname: Xie
mesh_terms: D000782:Aneuploidy; D020090:Chromosome Segregation; D002877:Chromosomes, Human / Q000235:genetics; D003434:Crossing Over, Genetic; D015894:Genome, Human; D006239:Haplotypes; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008540:Meiosis; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D011995:Recombination, Genetic; D017422:Sequence Analysis, DNA / Q000379:methods*; D059010:Single-Cell Analysis; D013094:Spermatozoa / Q000502:physiology*; D024363:Transcription Initiation Site