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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Chromothripsis ： ウィキペディア英語版 Chromothripsis Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. It occurs through one massive genomic rearrangement during a single catastrophic event in the cell's history. It is believed that for the cell to be able to withstand such a destructive event, the occurrence of such an event must be the upper limit of what a cell can tolerate and survive. The chromothripsis phenomenon opposes the conventional theory that cancer is the gradual acquisition of genomic rearrangements and somatic mutations over time. The simplest model as to how these rearrangements occur is through the simultaneous fragmentation of distinct chromosomal regions (breakpoints show a non-random distribution) and then subsequent imperfect reassembly by DNA repair pathways or aberrant DNA replication mechanisms. Chromothripsis occurs early in tumour development and leads to cellular transformation by loss of tumour suppressors and oncogene amplifications. But recently, it has been found that chromothripsis can be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothrypsis of chromosome 2 deleted the disease allele. Chromothripsis is a neologism that comes from the Greek words ''chromo'' which means color (and represents chromosomes because they are strongly stained by particular dyes) and ''thripsis'' which means 'shattering into pieces'.〔 ==First observation== Chromothripsis was first observed in sequencing the genome of a chronic lymphocytic leukaemia. Through paired end sequencing, 42 chromosomal rearrangements were found in the long arm of chromosome 4 and a significant number of rearrangements were found in regions of chromosomes 1, 12, and 15.〔 Subsequent investigations using genome-wide paired-end sequencing and SNP array analysis have found similar patterns of chromothripsis in various human cancers, ''e.g.'', Melanomas, Sarcomas and colorectal, lung and thyroid cancers. In subsequent investigations, about 25% of studied bone cancers displayed evidence of chromothripsis. Chromothripsis has been seen in 2–3% of cancers across all subtypes.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Chromothripsis」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.