Bending of DNA duplexes with mutation motifs
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F19%3A00108081" target="_blank" >RIV/00216224:14740/19:00108081 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/19:00071195
Result on the web
<a href="https://watermark.silverchair.com/dsz013.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAn0wggJ5BgkqhkiG9w0BBwagggJqMIICZgIBADCCAl8GCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQM2P_kZ8Bb6FuOfMVMAgEQgIICME8CSlfDtGUo2Ntsvr6SFHJpljqvpF_kdltgNIUNdU80L22" target="_blank" >https://watermark.silverchair.com/dsz013.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAn0wggJ5BgkqhkiG9w0BBwagggJqMIICZgIBADCCAl8GCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQM2P_kZ8Bb6FuOfMVMAgEQgIICME8CSlfDtGUo2Ntsvr6SFHJpljqvpF_kdltgNIUNdU80L22</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/dnares/dsz013" target="_blank" >10.1093/dnares/dsz013</a>
Alternative languages
Result language
angličtina
Original language name
Bending of DNA duplexes with mutation motifs
Original language description
Mutations can be induced by environmental factors but also arise spontaneously during DNA replication or due to deamination of methylated cytosines at CpG dinucleotides. Sites where mutations occur with higher frequency than would be expected by chance are termed hotspots while sites that contain mutations rarely are termed coldspots. Mutations are permanently scanned and repaired by repair systems. Among them, the mismatch repair targets base pair mismatches, which are discriminated from canonical base pairs by probing altered elasticity of DNA. Using biased molecular dynamics simulations, we investigated the elasticity of coldspots and hotspots motifs detected in human genes associated with inherited disorders, and also of motifs with Czech population hotspots and de novo mutations. Main attention was paid to mutations leading to G/T and A+/C pairs. We observed that hotspots without CpG/CpHpG sequences are less flexible than coldspots, which indicates that flexible sequences are more effectively repaired. In contrary, hotspots with CpG/CpHpG sequences exhibited increased flexibility as coldspots. Their mutability is more likely related to spontaneous deamination of methylated cytosines leading to C > T mutations, which are primarily targeted by base excision repair. We corroborated conclusions based on computer simulations by measuring melting curves of hotspots and coldspots containing G/T mismatch.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
DNA RESEARCH
ISSN
1340-2838
e-ISSN
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Volume of the periodical
26
Issue of the periodical within the volume
4
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
341-352
UT code for WoS article
000493011000005
EID of the result in the Scopus database
2-s2.0-85071704811