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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'Driscoll
Microcephaly 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 Repair

ISSN

1568-7864

Publisher

Elsevier

Issue

8

Volume

12

Page range

637-644

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2013-07-01

First Open Access (FOA) Date

2013-07-01

First Compliant Deposit (FCD) Date

2013-07-01

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