BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes

Niek van Wietmarschen, Sarra Merzouk, Nancy Halsema, Diana C J Spierings, Victor Guryev, Peter M Lansdorp

OnderzoeksoutputAcademicpeer review

33 Citaten (Scopus)
315 Downloads (Pure)

Samenvatting

Bloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand sequencing (Strand-seq) to map the genomic locations of SCEs. Our results show that in the absence of BLM, SCEs in human and murine cells do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex (G4) motifs in transcribed genes. We propose that BLM protects against genome instability by suppressing recombination at sites of G4 structures, particularly in transcribed regions of the genome.

Originele taal-2English
Artikelnummer271
Aantal pagina's12
TijdschriftNature Communications
Volume9
Nummer van het tijdschrift1
Vroegere onlinedatum18-jan-2018
DOI's
StatusPublished - 18-jan-2018

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