Mapping crossover events of mouse meiotic recombination by restriction fragment ligation-based Refresh-seq.
Journal
Cell discovery
ISSN: 2056-5968
Titre abrégé: Cell Discov
Pays: England
ID NLM: 101661034
Informations de publication
Date de publication:
05 Mar 2024
05 Mar 2024
Historique:
received:
02
06
2023
accepted:
11
12
2023
medline:
6
3
2024
pubmed:
6
3
2024
entrez:
5
3
2024
Statut:
epublish
Résumé
Single-cell whole-genome sequencing methods have undergone great improvements over the past decade. However, allele dropout, which means the inability to detect both alleles simultaneously in an individual diploid cell, largely restricts the application of these methods particularly for medical applications. Here, we develop a new single-cell whole-genome sequencing method based on third-generation sequencing (TGS) platform named Refresh-seq (restriction fragment ligation-based genome amplification and TGS). It is based on restriction endonuclease cutting and ligation strategy in which two alleles in an individual cell can be cut into equal fragments and tend to be amplified simultaneously. As a new single-cell long-read genome sequencing method, Refresh-seq features much lower allele dropout rate compared with SMOOTH-seq. Furthermore, we apply Refresh-seq to 688 sperm cells and 272 female haploid cells (secondary polar bodies and parthenogenetic oocytes) from F1 hybrid mice. We acquire high-resolution genetic map of mouse meiosis recombination at low sequencing depth and reveal the sexual dimorphism in meiotic crossovers. We also phase the structure variations (deletions and insertions) in sperm cells and female haploid cells with high precision. Refresh-seq shows great performance in screening aneuploid sperm cells and oocytes due to the low allele dropout rate and has great potential for medical applications such as preimplantation genetic diagnosis.
Identifiants
pubmed: 38443370
doi: 10.1038/s41421-023-00638-9
pii: 10.1038/s41421-023-00638-9
doi:
Types de publication
Journal Article
Langues
eng
Pagination
26Subventions
Organisme : National Natural Science Foundation of China (National Science Foundation of China)
ID : 32288102
Informations de copyright
© 2024. The Author(s).
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