1.Genome Architecture and Its Roles in Human Copy Number Variation.
Lu CHEN ; Weichen ZHOU ; Ling ZHANG ; Feng ZHANG
Genomics & Informatics 2014;12(4):136-144
Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various genomic features and discuss their contributions to CNV formation. Genomic repeats, including both low-copy and high-copy repeats, play important roles in CNV instability, which was initially known as DNA recombination events. Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. Our review highlights that genome architecture, from DNA sequence to high-order genomic organization, is an important molecular factor in CNV mutagenesis and human genomic instability.
Base Sequence
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DNA
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DNA Copy Number Variations
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DNA Replication
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DNA Replication Timing
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Genome*
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Genome, Human
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Genomic Instability
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Humans
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Mutagenesis
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Recombination, Genetic
2.DNA replication licensing control and rereplication prevention.
Protein & Cell 2010;1(3):227-236
Eukaryotic DNA replication is tightly restricted to only once per cell cycle in order to maintain genome stability. Cells use multiple mechanisms to control the assembly of the prereplication complex (pre-RC), a process known as replication licensing. This review focuses on the regulation of replication licensing by posttranslational modifications of the licensing factors, including phosphorylation, ubiquitylation and acetylation. These modifications are critical in establishing the pre-RC complexes as well as preventing rereplication in each cell cycle. The relationship between rereplication and diseases, including cancer and virus infection, is discussed as well.
Acetylation
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Animals
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Cell Cycle
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DNA Replication
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genetics
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physiology
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DNA Replication Timing
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DNA, Neoplasm
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biosynthesis
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genetics
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Genomic Instability
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Host-Pathogen Interactions
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Humans
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Models, Biological
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Neoplasms
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drug therapy
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genetics
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metabolism
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Phosphorylation
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Protein Processing, Post-Translational
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Ubiquitination
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Virus Diseases
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genetics
;
metabolism