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Causes and consequences of structural genomic alterations in the human genome

journal contribution
posted on 2023-06-08, 16:17 authored by Lesley Hart, Mark O'DriscollMark O'Driscoll
The revolutionary development and application of microarray-based comparative genomic hybridisation (aCGH) technology within the past decade or so represents a profound and continuing fundamental contribution to the molecular dissection and characterisation of complex human disorders: disorders ranging from developmental pathologies including intellectual disability, schizophrenia and autism spectrum disorders to more common conditions such as cancer. A unifying underlying feature here is that these disorders are associated with complex structural rearrangements in chromosomes. aCGH technology application has also enabled the refinement of ‘old’ and identification of ‘new’ mechanisms to explain the origin of these complex chromosomal alterations. Interestingly, these structural variations can also incorporate genes whose products play fundamental roles in aspects of deoxyribonucleic acid repair, replication and recombination, thereby having an impact on genome-wide stability and integrity. In this article, the mechanisms underlying complex structural chromosomal rearrangements are reviewed and their implications with respect to genome-wide stability are discussed.

History

Publication status

  • Published

File Version

  • Published version

Journal

Encyclopedia of Life Sciences

Publisher

John Wiley & Sons

Page range

1-10

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2013-11-08

First Compliant Deposit (FCD) Date

2013-11-08

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