Journal ArticleDOI
Genome instability: a mechanistic view of its causes and consequences
TLDR
The causes and consequences of instability are reviewed with the aim of providing a mechanistic perspective on the origin of genomic instability.Abstract:
Genomic instability in the form of mutations and chromosome rearrangements is usually associated with pathological disorders, and yet it is also crucial for evolution. Two types of elements have a key role in instability leading to rearrangements: those that act in trans to prevent instability--among them are replication, repair and S-phase checkpoint factors--and those that act in cis--chromosomal hotspots of instability such as fragile sites and highly transcribed DNA sequences. Taking these elements as a guide, we review the causes and consequences of instability with the aim of providing a mechanistic perspective on the origin of genomic instability.read more
Citations
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Book ChapterDOI
Photosensitivity, Pigmentary Changes, and Short Stature
TL;DR: An adolescent girl and her cousin presented with features of dwarfism, cafe au lait macules, idiopathic guttate hypomelanosis-like lesions, decreased mentality, and microcephaly.
Journal ArticleDOI
The G9a/CHCHD2/Sirt1 Regulatory Module Acts on RNase H1 to Control R-Loop Formation at rDNA Sites
Le Li,Yequn Wu,Kui Dai,Qing Wang,Shiqi Ye,Qipeng Shi,Zhen-Xia Chen,Yi-chun Huang,Weiwei Zhao,Lijia Li +9 more
TL;DR: Le Li College of Life Sciences Wuhan University as discussed by the authors Yequn Wu College of life sciences Wuhane University Kui Dai College of LLS Wuhana University Qing Wang Wuhanne University Shiqi Ye College of LLS WuhAN University Qipeng Shi College of LS Wuhuan University Zhenfei Chen Chen College of LCW Wuhna University Yi-Chun Huang College of HLWU Weiwei Zhao Wuhanu University Lijia Li ( ljli@whu.edu.cn )
ATRPathwayInhibitionIsSyntheticallyLethalinCancerCells with ERCC1 Deficiency
TL;DR: It is concluded that ATR pathway–targeted drugs may offer particular utility in cancers with reduced ATR pathways function or reduced levels of ERCC4 activity, as well as triple-negative breast cancer cells and non–small cell lung cancer cells depleted of ER CC1 exhibited increased sensitivity to ATR pathogenicity drugs.
Journal ArticleDOI
Science and surmise
TL;DR: An analysis of scrotal asymmetry in ancient greek and roman sculptures revealed that although the ancient artists were correct in tending to place the right testicle higher, they were wrong in so far as they also tended to make the lower testicle the larger.
Journal ArticleDOI
Editorial: Mechanisms guarding the genome
TL;DR: This paper presents a meta-analyses of the determinants of cancer and ageing disease progression and some of the mechanisms leading to cell death and organ failure are studied.
References
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Book
DNA Repair and Mutagenesis
TL;DR: Nucleotide excision repair in mammalian cells: genes and proteins Mismatch repair The SOS response and recombinational repair in prokaryotes Mutagenesis in proKaryote Mutagenisation in eukaryotes Other DNA damage tolerance responses in eUKaryotes.
Journal ArticleDOI
Instability and decay of the primary structure of DNA
TL;DR: The spontaneous decay of DNA is likely to be a major factor in mutagenesis, carcinogenesis and ageing, and also sets limits for the recovery of DNA fragments from fossils.
Journal ArticleDOI
DNA Double-stranded Breaks Induce Histone H2AX Phosphorylation on Serine 139
TL;DR: In this paper, a histone H2AX species that has been phosphorylated specifically at serine 139 was found to be a major component of DNA double-stranded break.
Journal ArticleDOI
ATM Phosphorylates Histone H2AX in Response to DNA Double-strand Breaks
TL;DR: The results clearly establish ATM as the major kinase involved in the phosphorylation of H2AX and suggest that ATM is one of the earliest kinases to be activated in the cellular response to double-strand breaks.
Journal ArticleDOI
Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions
Vassilis G. Gorgoulis,Leandros-Vassilios F. Vassiliou,Panagiotis Karakaidos,Panayotis Zacharatos,Athanassios Kotsinas,Triantafillos Liloglou,Monica Venere,Richard A. DiTullio,Nikolaos G. Kastrinakis,Brynn Levy,Dimitris Kletsas,Akihiro Yoneta,Meenhard Herlyn,Christos Kittas,Thanos D. Halazonetis,Thanos D. Halazonetis +15 more
TL;DR: A panel of human lung hyperplasias, all of which retained wild-type p53 genes and had no signs of gross chromosomal instability, and found signs of a DNA damage response, including histone H2AX and Chk2 phosphorylation, p53 accumulation, focal staining of p53 binding protein 1 (53BP1) and apoptosis as discussed by the authors.