Chromothriptic
WebNov 13, 2024 · Abstract. Chromothripsis is a form of genome instability by which a presumably single catastrophic event generates extensive genomic … Chromothripsis is a mutational process 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 … See more Chromothripsis was first observed in sequencing the genome of a chronic lymphocytic leukaemia. Through paired end sequencing, 55 chromosomal rearrangements were found in the long arm of … See more • Large numbers of complex rearrangements in localised regions of single chromosomes or chromosome arms (showed by high density and clustered breakpoints) which suggests that chromosomes need to be condensed e.g. in See more One of the main characteristic features of chromothripsis is large numbers of complex rearrangements occurring in localised regions of single chromosomes. The ability to cause such confined damage suggests that chromosomes need to be condensed e.g. in See more Research in patients with chromothripsis-associated cancers may provide some information about prognosis. TP53 mutations and chromothripsis have been linked in SHH medulloblastoma patients. Poor clinical outcomes in neuroblastomas (such as those … See more The most widely accepted and straightforward model for chromothripsis is that within a single chromosome, distinct chromosomal regions become fragmented/shattered … See more Mutations in the TP53 gene can predispose a cell to chromothripsis. Through genome sequencing of a Sonic hedgehog medulloblastoma … See more Chromothripsis has been seen to cause oncogene amplification, amplification of oncogene containing regions and the loss of tumour suppressors. Chromosome segregation errors can lead to DNA damage and chromosomal aberrations such … See more
Chromothriptic
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WebChromosomal rearrangements are generally thought to accumulate gradually over many generations. However, DNA sequencing of cancer and congenital disorders uncovered a new pattern in which multiple rearrangements arise all at once. The most striking example, chromothripsis, is characterized by tens or hundreds of rearrangements confined to a … WebApr 1, 2024 · Chromothripsis is defined as the mechanism by which tens to hundreds of locally clustered DNA rearrangements are formed, typically in one or a few chromosomes, caused by a single event sometimes accompanied by double-minute chromosomes [ 1 ].
WebFeb 9, 2016 · Telomere length and telomere stabilization mechanisms diverge between samples with and without chromothripsis in a given tumor subtype. Longitudinal analyses of the evolution of chromothriptic patterns identify either stable patterns between matched primary and relapsed tumors, or loss of the chromothriptic clone in the relapsed specimen. WebFeb 2, 2015 · Here we describe chromothriptic deletions of one copy of chromosome 2, including deletion of the disease allele CXCR4 R334X, in a patient with WHIM syndrome …
WebFeb 6, 2024 · Subsequent whole-genome mate-pair sequencing confirmed the chromothriptic nature of the rearrangement. The four participating chromosomes were broken into 29 segments longer than 1 kb. Sanger sequencing of all breakpoint junctions revealed additional complexity compatible with the involvement of different repair pathways. WebMay 28, 2024 · The mutagenic event was independent of specific local DNA motifs or de novo point mutations, but may be driven by spermatogenesis-specific factors. These results indicate that during spermatogenesis, a transient multifocal genomic crisis can introduce several chromothriptic and non-chromothriptic changes into the genome.
WebOct 24, 2024 · Description. This sequence change creates a premature translational stop signal (p.Arg334*) in the CXCR4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the CXCR4 protein.
WebSep 27, 2024 · Chromothripsis is a localised catastrophic genome shattering event that can be used to study how the underlying genomic sequence affects this higher order structuring. Since chromothripsis tends to... philosopher\u0027s f1WebChromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a case in … philosopher\u0027s f0WebSep 13, 2012 · Chromothripsis is a phenomenon by which tens to thousands of chromosomal rearrangements occur, with the available evidence indicating that … philosopher\\u0027s f0WebJun 25, 2024 · Single cell multi-omics analysis of chromothriptic medulloblastoma highlights genomic and transcriptomic consequences of genome instability R. Gonzalo Parra* 1,2 , Moritz J Przybilla* 1,2,3 ... philosopher\\u0027s f2WebFeb 5, 2024 · Abstract. Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that … philosopher\u0027s f3WebMay 1, 2016 · In chromothriptic areas you get . alternation of fields, ranges which make payment before . work h etero zygos ity-two co py (no loss o r prof it), with f ields, philosopher\\u0027s f4WebIn chromothriptic medulloblastoma, an ecosystem of cells from multiple genetic clones resisting treatment and leading to relapse highlighted the importance of multi-clone interplay. Finally, we identified a potential role for tumour microtubes in treatment resistance in chromothriptic medulloblastoma, suggesting cell network communication as a ... philosopher\\u0027s f9