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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Journal ArticleDOI
Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues
Rebecka L. Bourn,Irene De Biase,Ricardo Mouro Pinto,Chiranjeevi Sandi,Sahar Al-Mahdawi,Mark A. Pook,Sanjay I. Bidichandani +6 more
TL;DR: Somatic instability in transgenic mice that carry an expanded (GAA·TTC)n sequence is analyzed in the context of the human FXN locus and it is concluded that Pms2 specifically suppresses large expansions of a pathogenic trinucleotide repeat sequence in neuronal tissues, possibly acting independently of the canonical MMR pathway.
Journal ArticleDOI
Yeast: a simple model system to study complex phenomena of aneuploidy.
TL;DR: The contribution of studies in yeast to current knowledge about aneuploidy is discussed and special emphasis is placed on experimental features that make yeast a simpler and efficient model to investigate the complex questions in the field of aneuPLoidy.
Journal ArticleDOI
The Relationship Between Vitamin B6, Diabetes and Cancer.
Chiara Merigliano,Elisa Mascolo,Romina Burla,Isabella Saggio,Isabella Saggio,Fiammetta Vernì +5 more
TL;DR: This review will explore data obtained in Drosophila revealing the existence of a connection between vitamin B6, DNA damage and diabetes, as flies in the past decade turned out to be a promising model also for metabolic diseases including diabetes.
Journal ArticleDOI
Serine/arginine-rich splicing factor 3 (SRSF3) regulates homologous recombination-mediated DNA repair
Xiaolong He,Pei Zhang +1 more
TL;DR: SRSF3 is a new regulator ofHRR process, which possibly regulates the expression of HRR-related genes indirectly through an epigenetic pathway, and its downregulation of BRCA1, BRIP1 and RAD51 expression was caused by decreased transcription and not due to increased nonsense-mediated mRNA decay.
Journal ArticleDOI
Nonrandom Survival of Gene Conversions among Yeast Ribosomal Proteins Duplicated through Genome Doubling
TL;DR: Although nonsynonymous sites in the coding sequences show strong evidence for the fixation of recent gene conversion events, similar patterns are less evident among the synonymous positions and noncoding regulatory elements in yeast ribosomal protein genes duplicated in a genome duplication.
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.