Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing
- 21 December 2012
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 338 (6114), 1627-1630
- https://doi.org/10.1126/science.1229112
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.Keywords
This publication has 37 references indexed in Scilit:
- Accurate whole-genome sequencing and haplotyping from 10 to 20 human cellsNature, 2012
- Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human SpermCell, 2012
- A Fine-Scale Chimpanzee Genetic Map from Population SequencingScience, 2012
- Haplotype phasing: existing methods and new developmentsNature Reviews Genetics, 2011
- A comprehensively molecular haplotype-resolved genome of a European individualGenome Research, 2011
- The landscape of recombination in African AmericansNature, 2011
- Distinct Properties of the XY Pseudoautosomal Region Crucial for Male MeiosisScience, 2011
- Haplotype-resolved genome sequencing of a Gujarati Indian individualNature Biotechnology, 2011
- Whole-genome molecular haplotyping of single cellsNature Biotechnology, 2011
- Direct determination of molecular haplotypes by chromosome microdissectionNature Methods, 2010