Chromothripsis
Chromothripsis
Chromothripsis (pronounced: kro-mo-thrip-sis) is a phenomenon in which there are extensive genomic rearrangements that occur in a one-off cellular crisis. This term was first coined in 2011 by researchers studying the genomes of cancer cells.
Etymology
The term "chromothripsis" is derived from the Greek words "chroma" meaning color, and "thripsis" meaning shattering into pieces. This term was chosen to describe the appearance of shattered chromosomes that are aberrantly pieced together.
Definition
Chromothripsis is a catastrophic cellular event that results in the shattering of one or more chromosomes, followed by the random reassembly of the shattered chromosomal pieces. This process can lead to extensive genomic rearrangements, including deletions, duplications, and inversions of genetic material.
Occurrence
Chromothripsis has been observed in a variety of human diseases, most notably in cancer where it is associated with poor prognosis. It has also been observed in cases of congenital birth defects and in patients with neurodegenerative diseases.
Mechanism
The exact mechanism of chromothripsis is still under investigation. However, it is believed to involve a series of steps including chromosome shattering, DNA repair, and chromosome reassembly. This process is thought to be triggered by various forms of cellular stress, such as DNA damage, telomere dysfunction, and mitotic errors.
Related Terms
See Also
External links
- Medical encyclopedia article on Chromothripsis
- Wikipedia's article - Chromothripsis
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