The OFD1 gene was initially identified as the gene responsible for the X-linked dominant male lethal OFD type I syndrome, a developmental disorder ascribed to cilia disfunction. The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, retinitis pigmentosa, primary ciliary dyskinesia and Simpson–Golabi–Behmel type 2 syndrome. The centrosomal/basal body OFD1 protein has indeed been shown to be required for primary cilia formation and left–right asymmetry. The protein is also involved in other tasks, e.g. regulation of cellular protein content, constrain of the centriolar length, chromatin remodeling at DNA double strand breaks, control of protein quality balance and cell cycle progression, which might be mediated by non-ciliary activities. OFD1 represents a paradigmatic model of a protein that performs its diverse actions according to the cell needs and depending on the subcellular localization, the cell type/tissue and other possible factors still to be determined. An increased number of multitask protein, such as OFD1, may represent a partial explanation to human complexity, as compared with less complex organisms with an equal or slightly lower number of proteins.
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October 2020
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Cover Image
Cover Image
Centrosomes are microtubule-organizing centres required for the asymmetric division of neural stem cells, which support neurodevelopment, as discussed in a mini-review by Robinson and colleagues (pages 2101–2115) In the cover image, microtubules are shown in yellow and neural stem cells (aPKC) are magenta. Image provided by Dorothy Lerit.
Review Article|
September 08 2020
OFD Type I syndrome: lessons learned from a rare ciliopathy
Manuela Morleo
;
1Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Naples, Italy
Correspondence: Brunella Franco (franco@tigem.it) or Manuela Morleo (morleo@tigem.it)
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Brunella Franco
1Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Naples, Italy
2Medical Genetics, Department of Translational Medical Sciences, Federico II University of Naples, Via Sergio Pansini 5, 80131 Naples, Italy
Correspondence: Brunella Franco (franco@tigem.it) or Manuela Morleo (morleo@tigem.it)
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Publisher: Portland Press Ltd
Received:
June 17 2020
Revision Received:
July 31 2020
Accepted:
August 14 2020
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© 2020 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society
2020
Biochem Soc Trans (2020) 48 (5): 1929–1939.
Article history
Received:
June 17 2020
Revision Received:
July 31 2020
Accepted:
August 14 2020
Citation
Manuela Morleo, Brunella Franco; OFD Type I syndrome: lessons learned from a rare ciliopathy. Biochem Soc Trans 30 October 2020; 48 (5): 1929–1939. doi: https://doi.org/10.1042/BST20191029
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