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Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

WM. Guiblet, MA. Cremona, M. Cechova, RS. Harris, I. Kejnovská, E. Kejnovsky, K. Eckert, F. Chiaromonte, KD. Makova,

. 2018 ; 28 (12) : 1767-1778. [pub] 20181106

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19028109
E-zdroje Online Plný text

NLK Free Medical Journals od 1991 do Před 6 měsíci
Freely Accessible Science Journals od 1991-08-01 do Před 1 rokem
PubMed Central od 1997 do Před 6 měsíci
Europe PubMed Central od 1997 do Před 6 měsíci
Open Access Digital Library od 1991-08-01
Open Access Digital Library od 1991-08-01

Odkazy

PubMed 30401733
DOI 10.1101/gr.241257.118
Knihovny.cz E-zdroje

DNA conformation may deviate from the classical B-form in ∼13% of the human genome. Non-B DNA regulates many cellular processes; however, its effects on DNA polymerization speed and accuracy have not been investigated genome-wide. Such an inquiry is critical for understanding neurological diseases and cancer genome instability. Here, we present the first simultaneous examination of DNA polymerization kinetics and errors in the human genome sequenced with Single-Molecule Real-Time (SMRT) technology. We show that polymerization speed differs between non-B and B-DNA: It decelerates at G-quadruplexes and fluctuates periodically at disease-causing tandem repeats. Analyzing polymerization kinetics profiles, we predict and validate experimentally non-B DNA formation for a novel motif. We demonstrate that several non-B motifs affect sequencing errors (e.g., G-quadruplexes increase error rates), and that sequencing errors are positively associated with polymerase slowdown. Finally, we show that highly divergent G4 motifs have pronounced polymerization slowdown and high sequencing error rates, suggesting similar mechanisms for sequencing errors and germline mutations.

Citace poskytuje Crossref.org

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