Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

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 metho...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2012-12, Vol.338 (6114), p.1627-1630
Main Authors: Lu, Sijia, Zong, Chenghang, Fan, Wei, Yang, Mingyu, Li, Jinsen, Chapman, Alec R., Zhu, Ping, Hu, Xuesong, Xu, Liya, Yan, Liying, Bai, Fan, Qiao, Jie, Tang, Fuchou, Li, Ruiqiang, Xie, X. Sunney
Format: Article
Language:English
Subjects:
Amplification
Aneuploidy
Annealing
Asian people
Biological and medical sciences
Cell cycle, cell proliferation
Cell division
Cell physiology
Cell separation
Chromosome Segregation
Chromosomes
Chromosomes, Human - genetics
Crossing Over, Genetic
Crossovers
Diploidy
Fundamental and applied biological sciences. Psychology
Gene sequencing
Genetic recombination
Genic rearrangement. Recombination. Transposable element
Genome, Human
Genomes
Genomics
Haplotypes
Heterogeneity
Heterozygote
High-Throughput Nucleotide Sequencing
Human
Human genetics
Humans
Male
Meiosis
Middle Aged
Molecular and cellular biology
Molecular genetics
Mutations
Nucleic Acid Amplification Techniques
Recombination, Genetic
Sequence Analysis, DNA - methods
Sequencing
Single-Cell Analysis
Sperm
Spermatozoa
Spermatozoa - physiology
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1229112