Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements

Letsolo, Boitelo Theresiah, Rowson, Janet Maud and Baird, Duncan Martin ORCID: https://orcid.org/0000-0001-8408-5467 2010. Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements. Nucleic Acids Research 38 (6) , pp. 1841-1852. 10.1093/nar/gkp1183

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Abstract

Telomere fusion is an important mutational event that has the potential to lead to large-scale genomic rearrangements of the types frequently observed in cancer. We have developed single-molecule approaches to detect, isolate and characterize the DNA sequence of telomere fusion events in human cells. Using these assays, we have detected complex fusion events that include fusion with interstitial loci adjacent to fragile sites, intra-molecular rearrangements, and fusion events involving the telomeres of both arms of the same chromosome consistent with ring chromosome formation. All fusion events were characterized by the deletion of at least one of the telomeres extending into the sub-telomeric DNA up to 5.6 kb; close to the limit of our assays. The deletion profile indicates that deletion may extend further into the chromosome. Short patches of DNA sequence homology with a G:C bias were observed at the fusion point in 60% of events. The distinct profile that accompanies telomere fusion may be a characteristic of the end-joining processes involved in the fusion event.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Publisher:	Oxford University Press
ISSN:	0305-1048
Last Modified:	06 Jun 2024 17:50
URI:	https://orca.cardiff.ac.uk/id/eprint/27740

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