The Detection and Analysis of Chromosome Fragile Sites
Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
Standard
The Detection and Analysis of Chromosome Fragile Sites. / Bjerregaard, Victoria A; Özer, Özgün; Hickson, Ian D; Liu, Ying.
Genome Instability: Methods and Protocols. Vol. 1672 Springer, 2018. p. 471-482 (Methods in molecular biology (Clifton, N.J.)).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - CHAP
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.
U2 - 10.1007/978-1-4939-7306-4_31
DO - 10.1007/978-1-4939-7306-4_31
M3 - Book chapter
C2 - 29043642
SN - 978-1-4939-7305-7
VL - 1672
T3 - Methods in molecular biology (Clifton, N.J.)
SP - 471
EP - 482
BT - Genome Instability
PB - Springer
ER -
ID: 190850028