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Most DNA in an individual genome is found in chromosomes contained in the nucleus. Multiple forms of extrachromosomal DNA exist, and, while some of these serve important biological functions, [1] they can also play a role in diseases such as cancer. [2] [3] [4]
Extrachromosomal circular DNA (eccDNA) is a type of double-stranded circular DNA structure that was first discovered in 1964 by Alix Bassel and Yasuo Hotta. [1] In contrast to previously identified circular DNA structures (e.g., bacterial plasmids, mitochondrial DNA, circular bacterial chromosomes, or chloroplast DNA), eccDNA are circular DNA found in the eukaryotic nuclei of plant and animal ...
Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]
One of the current projects involving Molecular Cytogenetics involves genomic research on rare cancers, called the Cancer Genome Characterization Initiative (CGCI). [15] The CGCI is a group interested in describing the genetic abnormalities of some rare cancers, by employing advanced sequencing of genomes, exomes, and transcriptomes, which may ...
Circular extrachromosomal DNA are not only found in yeast but other eukaryotic organisms. [15] [16] A regulated formation of eccDNA in preblastua Xenopus embryos has been developed. The population of circular rDNA is decreased in embryos, indicative of the circular rDNA migrating to linear DNA, as was shown in their analysis on 2D gel ...
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Genome annotation is an active area of investigation and involves a number of different organizations in the life science community which publish the results of their efforts in publicly available biological databases accessible via the web and other electronic means. Here is an alphabetical listing of on-going projects relevant to genome ...
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