Chromosome Analysis Using Spectral Karyotyping (SKY)

Imataka, George; Arisaka, Osamu

doi:10.1007/s12013-011-9285-2

Cited by 48 publications

(40 citation statements)

References 16 publications

(19 reference statements)

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“…It identifies small (1–2 Mb) or complex chromosomal rearrangements better than standard karyotyping [37, 38]. It readily identifies aberrant chromosomes even if their structural abnormalities or small size render them hard to recognize by G-banding [39]. SKY readily identifies translocations and complex chromosomal rearrangements between chromosomes [24, 25, 38].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal stability of mesenchymal stromal cells during in vitro culture

et al. 2016

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Background aims Mesenchymal stromal cells (MSCs) are being investigated for use in cell therapy. The extensive in vitro expansion necessary to obtain sufficient cells for clinical use increases the risk that genetically abnormal cells will arise and be propagated during cell culture. Genetic abnormalities may lead to transformation and poor performance in clinical use, and are a critical safety concern for cell therapies using MSCs. Methods We used spectral karyotyping (SKY) to investigate the genetic stability of human MSCs from ten donors during passaging. Results Our data indicate that chromosomal abnormalities exist in MSCs at early passages and can be clonally propagated. The karyotypic abnormalities observed during our study diminished during passage. Conclusions Karyotyping of MSCs reveals characteristics which may be valuable in deciding the suitability of cells for further use. Karyotypic analysis is useful for monitoring the genetic stability of MSCs during expansion.

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Section: Discussionmentioning

confidence: 99%

Chromosomal stability of mesenchymal stromal cells during in vitro culture

et al. 2016

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“…The large-scale translocations identified in leukemia, for example, can be capitulated in the production of oncogenic fusion proteins driving uncontrolled cell proliferation. Generally, these types of aberrations can be visualized with a form of chromosome painting called spectral karyotyping (SKY), where each chromosome is represented by a different color (322). Translocations identified with SKY are easily detected by microscopy as molecules containing fluorescence markers from different chromosomes.…”

Section: Alternative Uses Of 3c Technologiesmentioning

confidence: 99%

“…While SKY is one of the more accurate techniques used to identify structural abnormalities, its 1-to 2-Mb resolution limit implies that structural defects smaller than 1 Giemsa band will not be detected (322). However, these aberrations are well within the resolution range of 3C-based data and could easily be identified by using this type of technology.…”

Section: Alternative Uses Of 3c Technologiesmentioning

confidence: 99%

An Overview of Genome Organization and How We Got There: from FISH to Hi-C

Fraser

Williamson

Bickmore

et al. 2015

Microbiol Mol Biol Rev

203

174

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SUMMARY In humans, nearly two meters of genomic material must be folded to fit inside each micrometer-scale cell nucleus while remaining accessible for gene transcription, DNA replication, and DNA repair. This fact highlights the need for mechanisms governing genome organization during any activity and to maintain the physical organization of chromosomes at all times. Insight into the functions and three-dimensional structures of genomes comes mostly from the application of visual techniques such as fluorescence in situ hybridization (FISH) and molecular approaches including chromosome conformation capture (3C) technologies. Recent developments in both types of approaches now offer the possibility of exploring the folded state of an entire genome and maybe even the identification of how complex molecular machines govern its shape. In this review, we present key methodologies used to study genome organization and discuss what they reveal about chromosome conformation as it relates to transcription regulation across genomic scales in mammals.

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“…Each chromosome is sampled thousands of times, whereas with FISH the chromosomes are usually measured only once or twice. Although spectral karyotyping (SKY) can also be used to count all chromosomes within a cell, this method requires metaphase chromosomes and thus dividing cells, while single cell sequencing can be performed on nondividing cells [84]. Moreover, SKY is more likely to overestimate chromosome loss, due to chromosomes being washed away from the slide onto which they were dropped.…”

Section: Low Levels Of Aneuploidy Found In the Brain Using Single Celmentioning

confidence: 99%

Does Aneuploidy in the Brain Play a Role in Neurodegenerative Disease?

Bos¹,

Spierings²,

Foijer³

et al. 2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Aneuploidy, a state in which cells exhibit copy number changes of (parts of) chromosomes, is a hallmark of cancer cells and, when present in all cells, leads to miscarriages and congenital disorders, such as Down syndrome. In addition to these well-known roles of aneuploidy, chromosome copy number changes have also been reported in some studies to occur in neurons in healthy human brain and possibly even more in Alzheimer's disease (AD). However, the studies of aneuploidy in the human brain are currently under debate as earlier indings, mostly based on in situ hybridization approaches, could not be reproduced by more recent single cell sequencing studies with a much higher resolution. Here, we review the various studies on the occurrence of aneuploidy in brain cells from normal individuals and Alzheimer's patients. We discuss possible mechanisms for the origin of aneuploidy and the pros and cons of diferent techniques used to study aneuploidy in the brain, and we provide a future perspective.

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Chromosome Analysis Using Spectral Karyotyping (SKY)

Cited by 48 publications

References 16 publications

Chromosomal stability of mesenchymal stromal cells during in vitro culture

Chromosomal stability of mesenchymal stromal cells during in vitro culture

An Overview of Genome Organization and How We Got There: from FISH to Hi-C

Does Aneuploidy in the Brain Play a Role in Neurodegenerative Disease?

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