Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

Matthew Adams ¹, Ursula M Smith ², Clare V Logan ¹ and Colin A Johnson ^1*

¹ Leeds Institute of Molecular Medicine, United Kingdom
² University of Birmingham, United Kingdom

^* To whom correspondence should be addressed. E-mail: c.johnson{at}leeds.ac.uk.

Accepted 20 December 2007

Abstract

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress in the last five years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known as ciliopathies, and although their range in severity can vary, they share some common and unexpected clinical phenotypes. The aim of this review is to assess recent insights into the structure, function and formation of primary cilia and relate this to the pathology, molecular genetics and cell biology of the ciliopathies.

Keywords: basal body, ciliopathy, intraflagellar transport, primary cilia

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