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Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
To assess the distribution and evolutionary conservation of two distinct prokaryotic repetitive elements, consensus oligonucleotides were used in polymerase chain reaction amplification and slot blot hybridization experiments with genomic DNA from diverse eubacterial species.
Mechanisms of change in gene copy number
Current models of the mechanisms that cause copy number variation focus on perturbation of DNA replication and replication of non-contiguous DNA segments and cellular stress might induce repair of broken replication forks to switch from high-fidelity homologous recombination to non-homologous repair, thus promoting copy number change.
The complete genome of an individual by massively parallel DNA sequencing
This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods and demonstrated the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing, which is the first genome sequenced by next-generation technologies.
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
It is proposed that breakage of replication forks in stressed cells that are deficient in homologous recombination induces an aberrant repair process with features of break-induced replication (BIR) that will anneal with microhomology on any single-stranded DNA nearby, priming low-processivity polymerization with multiple template switches generating complex rearrangements, and eventual re-establishment of processive replication.
Mechanisms for human genomic rearrangements
NAHR, NHEJ and FoSTeS probably account for the majority of genomic rearrangements in the human genome and the frequency distribution of the three at a given locus may partially reflect the genomic architecture in proximity to that locus.
Copy number variation in human health, disease, and evolution.
Copy number variation, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution and appear much higher for CNVs than for SNPs.
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
A multi-organ disorder with neuronal degeneration in the central nervous system, peripheral neuronopathy and diluted pigmentation in the ‘pale tremor’ mouse is described and a novel form of autosomal recessive Charcot–Marie–Tooth disorder is designated CMT4J.