The Detection and Analysis of Chromosome Fragile Sites

Victoria A Bjerregaard; Özgün Özer; Ian D Hickson; Ying Liu

doi:10.1007/978-1-4939-7306-4_31

The Detection and Analysis of Chromosome Fragile Sites

Victoria A Bjerregaard, Özgün Özer, Ian D Hickson, Ying Liu

4 Citationer (Scopus)

Abstract

A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of cells to DNA replication stress. Based on their frequency, fragile sites are classified as either common (CFSs; present in all individuals) or rare (RFSs; present in only a few individuals). Interest in fragile sites has remained high since their discovery in 1965, because of their association with human disease. CFSs are recognized as drivers of oncogene activation and genome instability in cancer cells, while some RFSs are associated with neurodegenerative diseases. This review summaries our current understanding of the nature and causes of fragile site "expression", including the recently characterized phenomenon of telomere fragility. In particular, we focus on a description of the methodologies and technologies for detection and analysis of chromosome fragile sites.

Originalsprog	Engelsk
Titel	Genome Instability : Methods and Protocols
Antal sider	12
Vol/bind	1672
Forlag	Springer
Publikationsdato	2018
Sider	471-482
ISBN (Trykt)	978-1-4939-7305-7
ISBN (Elektronisk)	978-1-4939-7306-4
DOI	https://doi.org/10.1007/978-1-4939-7306-4_31
Status	Udgivet - 2018

Navn	Methods in molecular biology (Clifton, N.J.)
ISSN	1064-3745

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10.1007/978-1-4939-7306-4_31

Citationsformater

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T1 - The Detection and Analysis of Chromosome Fragile Sites

AU - Bjerregaard, Victoria A

AU - Özer, Özgün

AU - Hickson, Ian D

AU - Liu, Ying

PY - 2018

Y1 - 2018

N2 - A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of cells to DNA replication stress. Based on their frequency, fragile sites are classified as either common (CFSs; present in all individuals) or rare (RFSs; present in only a few individuals). Interest in fragile sites has remained high since their discovery in 1965, because of their association with human disease. CFSs are recognized as drivers of oncogene activation and genome instability in cancer cells, while some RFSs are associated with neurodegenerative diseases. This review summaries our current understanding of the nature and causes of fragile site "expression", including the recently characterized phenomenon of telomere fragility. In particular, we focus on a description of the methodologies and technologies for detection and analysis of chromosome fragile sites.

AB - A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of cells to DNA replication stress. Based on their frequency, fragile sites are classified as either common (CFSs; present in all individuals) or rare (RFSs; present in only a few individuals). Interest in fragile sites has remained high since their discovery in 1965, because of their association with human disease. CFSs are recognized as drivers of oncogene activation and genome instability in cancer cells, while some RFSs are associated with neurodegenerative diseases. This review summaries our current understanding of the nature and causes of fragile site "expression", including the recently characterized phenomenon of telomere fragility. In particular, we focus on a description of the methodologies and technologies for detection and analysis of chromosome fragile sites.

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DO - 10.1007/978-1-4939-7306-4_31

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SN - 978-1-4939-7305-7

VL - 1672

T3 - Methods in molecular biology (Clifton, N.J.)

SP - 471

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BT - Genome Instability

PB - Springer

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The Detection and Analysis of Chromosome Fragile Sites

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