De novo deletions and duplications at recombination hotspots in mouse germlines
UID: 10971
- Description
- Summary from GEO:
"Numerous DNA double-strand breaks (DSBs) arise during meiosis to initiate homologous recombination. These DSBs are usually repaired faithfully, but here we uncover a new type of mutational event in which deletions form via joining of ends from two closely-spaced DSBs (double cuts) within a single hotspot or at adjacent hotspots on the same or different chromatids. Deletions occur in normal meiosis but are much more frequent when DSB formation is dysregulated in the absence of the ATM kinase. Events between chromosome homologs point to multi-chromatid damage and aborted gap repair. Some deletions contain DNA from other hotspots, indicating that double cutting at distant sites creates substrates for insertional mutagenesis. End joining at double cuts can also yield tandem duplications or extrachromosomal circles. Our findings highlight the importance of DSB regulation and reveal a previously hidden potential for meiotic mutagenesis that is likely to affect human health and genome evolution."
Overall design from GEO:
"Amplicon deep sequencing was applied to detect deletions at a single mouse DSB hotspot on Chr1. Four overlapping amplicons across the hotspot were amplified for each genotype: Atm–/–, Atm+/–, Atm+/+ and Spo11–/–). Sixteen samples in total."
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Access via GEO
Accession #: GSE182210Access via BioProject
Accession #: PRJNA755308Access via SRA
Accession #: SRP332728 - Access Restrictions
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Free to All
- Access Instructions
- The NCBI Gene Expression Omnibus, BioProject, and SRA databases provide open access to these files.
- Associated Publications
- Equipment Used
- Dataset Format(s)
- TAR, TXT
- Dataset Size
- 1.4 MB
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