The interplay of mutations and electronic properties in disease-related genes

C.-T. Shih, Stephen A. Wells, C.-L. Hsu, Y.-Y. Cheng, R.A. Römer

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.
Original languageEnglish
Article number272
Number of pages9
JournalScientific Reports
Volume2
Early online date15 Feb 2012
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Mutation
DNA
Genes
Tumor Suppressor Genes
DNA Repair
Early Diagnosis
Databases
Population

Cite this

The interplay of mutations and electronic properties in disease-related genes. / Shih, C.-T.; Wells, Stephen A.; Hsu, C.-L.; Cheng, Y.-Y.; Römer, R.A.

In: Scientific Reports, Vol. 2, 272, 02.2012.

Research output: Contribution to journalArticle

Shih, C.-T. ; Wells, Stephen A. ; Hsu, C.-L. ; Cheng, Y.-Y. ; Römer, R.A. / The interplay of mutations and electronic properties in disease-related genes. In: Scientific Reports. 2012 ; Vol. 2.
@article{8c4e68e0424b4408a0cfbf109dc40504,
title = "The interplay of mutations and electronic properties in disease-related genes",
abstract = "Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.",
author = "C.-T. Shih and Wells, {Stephen A.} and C.-L. Hsu and Y.-Y. Cheng and R.A. R{\"o}mer",
year = "2012",
month = "2",
doi = "10.1038/srep00272",
language = "English",
volume = "2",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Research",

}

TY - JOUR

T1 - The interplay of mutations and electronic properties in disease-related genes

AU - Shih, C.-T.

AU - Wells, Stephen A.

AU - Hsu, C.-L.

AU - Cheng, Y.-Y.

AU - Römer, R.A.

PY - 2012/2

Y1 - 2012/2

N2 - Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.

AB - Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.

UR - http://www.scopus.com/inward/record.url?scp=84859747140&partnerID=8YFLogxK

UR - http://dx.doi.org/10.1038/srep00272

U2 - 10.1038/srep00272

DO - 10.1038/srep00272

M3 - Article

VL - 2

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

M1 - 272

ER -