Centrosomes and Cilia in Human Disease

Overview

Journal Trends Genet

Specialty Genetics

Date 2011 Jun 18

PMID 21680046

Citations 199

Authors

Monica Bettencourt-Dias

Friedhelm Hildebrandt

David Pellman

Geoff Woods

Susana A Godinho

Affiliations

Soon will be listed here.

Abstract

Centrioles are microtubule-derived structures that are essential for the formation of centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal cells, participating in a variety of processes, from cell polarisation to cell division, whereas cilia and flagella contribute to several mechanisms in eukaryotic cells, from motility to sensing. Although it was suggested more than a century ago that these microtubule-derived structures are involved in human disease, the molecular bases of this association have only recently been discovered. Surprisingly, there is very little overlap between the genes affected in the different diseases, suggesting that there are tissue-specific requirements for these microtubule-derived structures. Knowledge of these requirements and disease mechanisms has opened new avenues for therapeutical strategies. Here, we give an overview of recent developments in this field, focusing on cancer, diseases of brain development and ciliopathies.

Citing Articles

Centrioles generate two scaffolds with distinct biophysical properties to build mitotic centrosomes.

Wong S, Monteiro J, Chang C, Peng M, Mohamad N, Steinacker T Sci Adv. 2025; 11(6):eadq9549.

PMID: 39919171 PMC: 11804907. DOI: 10.1126/sciadv.adq9549.

Structural insights into SSNA1 self-assembly and its microtubule binding for centriole maintenance.

Agostini L, Pfister J, Basnet N, Ding J, Zhang R, Biertumpfel C bioRxiv. 2025; .

PMID: 39803484 PMC: 11722292. DOI: 10.1101/2024.11.13.623454.

Primary Cilia Formation Mediated by Hsa_Circ_0005185/OTUB1/RAB8A Complex Inhibits Prostate Cancer Progression by Suppressing Hedgehog Signaling Pathway.

Fan A, Zhang Y, Li Y, Meng W, Wu F, Pan W Adv Sci (Weinh). 2025; 12(8):e2411675.

PMID: 39785769 PMC: 11848605. DOI: 10.1002/advs.202411675.

TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers.

Ferreccio A, Byeon S, Cornell M, Oses-Prieto J, Deshpande A, Weiss L bioRxiv. 2024; .

PMID: 39416068 PMC: 11482803. DOI: 10.1101/2024.10.07.617069.

A polarized multicomponent foundation upholds ciliary central microtubules.

Chen Q, Zhao H, Pan X, Fang C, Qiu B, Guo J J Mol Cell Biol. 2024; 16(8).

PMID: 39165107 PMC: 11781205. DOI: 10.1093/jmcb/mjae031.

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