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Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis
journal contribution
posted on 2023-06-08, 15:18 authored by Claudia Kerzendorfer, Rita Colnaghi, Iga Abramowicz, Gillian Carpenter, Mark O'DriscollMark O'DriscollMicrocephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been demonstrated to cause microcephaly in humans. Work describing novel functional defects in cell lines from individuals with either Meier–Gorlin syndrome or Wolf–Hirschhorn syndrome highlight the significance of optimal DNA replication and S phase progression for normal human development, including neurogenesis. These findings illustrate how different primary defects in processes impacting upon DNA replication potentially influence similar phenotypic outcomes, including growth retardation and microcephaly. Herein, we will describe the nature of the S phase defects uncovered for each of these conditions and highlight some of the overlapping cellular features.
History
Publication status
- Published
File Version
- Published version
Journal
DNA RepairISSN
1568-7864Publisher
ElsevierExternal DOI
Issue
8Volume
12Page range
637-644Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2013-07-01First Open Access (FOA) Date
2013-07-01First Compliant Deposit (FCD) Date
2013-07-01Usage metrics
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