Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis

Kerzendorfer, Claudia, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian and O'Driscoll, Mark (2013) Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair, 12 (8). pp. 637-644. ISSN 1568-7864

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Abstract

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.

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Subjects: Q Science > QP Physiology > QP0351 Neurophysiology and neuropsychology
R Medicine > RB Pathology > RB127 Manifestations of disease
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Depositing User: Mark O'Driscoll
Date Deposited: 01 Jul 2013 13:16
Last Modified: 07 Mar 2017 07:52
URI: http://sro.sussex.ac.uk/id/eprint/45556

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