Difference Makers: Chromosomal Instability versus Aneuploidy in Cancer

Jaarsveld, Richard H. van; Kops, Geert J. P. L.

doi:10.1016/j.trecan.2016.09.003

Cited by 65 publications

(66 citation statements)

References 102 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Aneuploidy, one of the most common chromosomal alterations, is characterized by an unbalanced chromosome number (i.e., having missing or extra chromosomes). Aneuploidy can be a consequence of CIN, and the level of CIN is typically associated with karyotypic complexity (6). Aneuploidy has been suggested to be a logical aberration in cells with CIN; however, CIN is not an obligatory outcome of aneuploidy (6).…”

Section: Cin Versus Aneuploidy In Cancermentioning

confidence: 99%

Chromosomal Instability in Tumor Initiation and Development

2019

View full text Add to dashboard Cite

Chromosomal instability (CIN) is one of the major forms of genomic instability in various human cancers and is recognized as a common hallmark of tumorigenesis and heterogeneity. However, some malignant tumors show a paucity of chromosomal alterations, suggesting that tumor progression and evolution can occur in the absence of CIN. It is unclear whether CIN is stable between precursor lesions, primary tumor, and metastases or if it evolves during these steps. In this review, we describe the influence of CIN on the various steps in tumor initiation and development. Given the recognized significant effects of CIN in cancer, CIN-targeted therapeutics could have a major impact on improving clinical outcomes.

show abstract

Section: Cin Versus Aneuploidy In Cancermentioning

confidence: 99%

Chromosomal Instability in Tumor Initiation and Development

2019

View full text Add to dashboard Cite

show abstract

“…Defects in kinetochore function cause chromosome segregation errors that lead to aneuploid cellular progeny. Aneuploidy is a major cause of embryonic maldevelopment and a prominent genomic abnormality in human cancers [3][4][5][6][7][8][9] .…”

Section: Introductionmentioning

confidence: 99%

Dynamic Kinetochore Size Regulation Promotes Microtubule Capture and Chromosome Biorientation in Mitosis

Sacristán

Ahmad

Fermie

et al. 2018

Preprint

View full text Add to dashboard Cite

Faithful chromosome segregation depends on the ability of sister kinetochores to attach to spindle microtubules. An outer layer of the kinetochore known as the fibrous corona transiently expands in early mitosis and disassembles upon microtubule capture. Neither the functional importance nor the mechanistic basis for this are known. Here we show that the dynein adaptor Spindly and the RZZ kinetochore complex drive fibrous corona formation in a dynein-independent manner. C-terminal farnesylation and MPS1 kinase activity cause conformational changes of Spindly that promote oligomerization of RZZ:Spindly complexes into a corona-like meshwork in cells and in vitro. Concurrent with corona expansion, Spindly potentiates corona shedding by recruiting dynein via three conserved short linear motifs. Expanded, nonsheddable fibrous coronas engage in extensive, long-lived lateral microtubule interactions that persist to metaphase and result in fused sister kinetochores, formation of merotelic attachments and chromosome segregation errors in anaphase.Thus, dynamic kinetochore size regulation in mitosis is coordinated by a single, Spindly-based mechanism that promotes initial microtubule capture and subsequent correct maturation of attachments.

show abstract

“…One of the possible errors that could lead to chimerism is chromosomal instability (CIN). CIN is suggested to be the consequence of errors in chromosome segregation during mitosis and occurs by the gradual change in chromosomal content within certain cell populations (van Jaarsveld & Kops, ).…”

Section: Discussionmentioning

confidence: 99%

Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism

et al. 2019

View full text Add to dashboard Cite

Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype-phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase-FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X-linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed. K E Y W O R D Scongenital chimera, male infertility, short tandem repeats markers, tetragametic chimerism

show abstract

Difference Makers: Chromosomal Instability versus Aneuploidy in Cancer

Cited by 65 publications

References 102 publications

Chromosomal Instability in Tumor Initiation and Development

Chromosomal Instability in Tumor Initiation and Development

Dynamic Kinetochore Size Regulation Promotes Microtubule Capture and Chromosome Biorientation in Mitosis

Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism

Contact Info

Product

Resources

About