A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease (Q47902770)

6 February 2018

title

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease (English)

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6 February 2018

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6 February 2018

Albino Bacolla

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Mihir Anant Kamat

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6 February 2018

Nadia Chuzhanova

series ordinal

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6 February 2018

publication date

15 October 2015

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6 February 2018

published in

Human Mutation

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6 February 2018

volume

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6 February 2018

issue

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6 February 2018

page(s)

65-73

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6 February 2018

Causes of genome instability

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Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells

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Guanine holes are prominent targets for mutation in cancer and inherited disease

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Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes

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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

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DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase

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Quantitative visualization of DNA G-quadruplex structures in human cells

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DNA secondary structures: stability and function of G-quadruplex structures

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The human specialized DNA polymerases and non-B DNA: vital relationships to preserve genome integrity

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The role of supercoiling in transcriptional control of MYC and its importance in molecular therapeutics

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Direct Evidence for the Formation of Precatenanes during DNA Replication

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Insights into the mechanism of a G-quadruplex-unwinding DEAH-box helicase

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Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

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Promoter G-quadruplex sequences are targets for base oxidation and strand cleavage during hypoxia-induced transcription

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On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

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DNA secondary structures and epigenetic determinants of cancer genome evolution

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Structural, energetic and dynamic properties of guanine(C8)-thymine(N3) cross-links in DNA provide insights on susceptibility to nucleotide excision repair

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Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints.

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Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation

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G-quadruplex folds of the human telomere sequence alter the site reactivity and reaction pathway of guanine oxidation compared to duplex DNA.

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A distinct triplex DNA unwinding activity of ChlR1 helicase

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On the complexity measures of genetic sequences.

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DNA triplet repeat expansion and mismatch repair

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DHX9 helicase is involved in preventing genomic instability induced by alternatively structured DNA in human cells

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Structural and thermodynamic insight into Escherichia coli UvrABC-mediated incision of cluster diacetylaminofluorene adducts on the NarI sequence.

21 January 2018

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Snaps and mends: DNA breaks and chromosomal translocations

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A preclinical mouse model of glioma with an alternative mechanism of telomere maintenance (ALT).

21 January 2018

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XPD-dependent activation of apoptosis in response to triplex-induced DNA damage

21 January 2018

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Context of deletions and insertions in human coding sequences.

21 January 2018

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The functional response of upstream DNA to dynamic supercoiling in vivo

21 January 2018

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21 January 2018

DNA replication fidelity

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DNA replication fidelity

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21 January 2018

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G-quadruplex structures are stable and detectable in human genomic DNA.

21 January 2018

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Dramatic effect of single-base mutation on the conformational dynamics of human telomeric G-quadruplex

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Metabolism of DNA secondary structures at the eukaryotic replication fork

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G-quadruplex-induced instability during leading-strand replication

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Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequences

21 January 2018

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Short Inverted Repeats Are Hotspots for Genetic Instability: Relevance to Cancer Genomes.

21 January 2018

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Identifying hydrogen bond alignments in multistranded DNA architectures by NMR.

21 January 2018

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DNA sequence context as a determinant of the quantity and chemistry of guanine oxidation produced by hydroxyl radicals and one-electron oxidants

21 January 2018

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Analysis of guanine oxidation products in double-stranded DNA and proposed guanine oxidation pathways in single-stranded, double-stranded or quadruplex DNA.

21 January 2018

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A meta-analysis of nonsense mutations causing human genetic disease.

21 January 2018

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Human polymerase kappa uses a template-slippage deletion mechanism, but can realign the slipped strands to favour base substitution mutations over deletions

21 January 2018

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Three Residues of the Interdomain Linker Determine the Conformation and Single-base Deletion Fidelity of Y-family Translesion Polymerases

21 January 2018

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Existence and consequences of G-quadruplex structures in DNA.

21 January 2018

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G-quadruplex structures formed at the HOX11 breakpoint region contribute to its fragility during t(10;14) translocation in T-cell leukemia

21 January 2018

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PKD1 intron 21: triplex DNA formation and effect on replication

21 January 2018

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DNA structure and human diseases

21 January 2018

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Resistance of bulky DNA lesions to nucleotide excision repair can result from extensive aromatic lesion-base stacking interactions

21 January 2018

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Differential DNA secondary structure-mediated deletion mutation in the leading and lagging strands

21 January 2018

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Small antisense oligonucleotides against G-quadruplexes: specific mRNA translational switches

21 January 2018

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Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity

21 January 2018

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DNA mismatch repair: molecular mechanisms and biological function

21 January 2018

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Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis

21 January 2018

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Non-B DNA Secondary Structures and Their Resolution by RecQ Helicases.

21 January 2018

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DNA structure, mutations, and human genetic disease

21 January 2018

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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

21 January 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

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Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

The repair of G-quadruplex-induced DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

The yin and yang of repair mechanisms in DNA structure-induced genetic instability

21 January 2018

1 reference

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

Non-B DNA conformations, mutagenesis and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22917

Contributions of the specialised DNA polymerases to replication of structured DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

Sites of instability in the human TCF3 (E2A) gene adopt G-quadruplex DNA structures in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22917

Biochemical characterization of Warsaw breakage syndrome helicase

21 January 2018

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Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B.

21 January 2018

1 reference

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Direct observation of guanine radical cation deprotonation in G-quadruplex DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

Poor base stacking at DNA lesions may initiate recognition by many repair proteins

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22917

Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique

21 January 2018

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Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks

21 January 2018

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The Repeat Expansion Diseases: The dark side of DNA repair

21 January 2018

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The NEIL glycosylases remove oxidized guanine lesions from telomeric and promoter quadruplex DNA structures

21 January 2018

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A triplex-forming sequence from the human c-MYC promoter interferes with DNA transcription

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Slipped misalignment mechanisms of deletion formation: in vivo susceptibility to nucleases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22917

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22917

1 reference

6 February 2018

1 reference

6 February 2018