The ciliopathies: A transitional model into systems biology of human genetic disease

Erica Ellen Davis, Elias Nicholas Katsanis*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

108 Scopus citations

Abstract

The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes in humans. This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; this discovery was driven partly by an improved understanding of the protein composition of the cilium and the co-occurrence of clinical phenotypes associated with ciliary dysfunction. Despite this progress, the fundamental challenge of predicting phenotype and or clinical progression based on single locus information remains unsolved. Here, we explore how the combinatorial knowledge of allele quality and quantity, an improved understanding of the biological composition of the primary cilium, and the expanded appreciation of the subcellular roles of this organelle can be synthesized to generate improved models that can explain both causality but also variable penetrance and expressivity.

Original languageEnglish (US)
Pages (from-to)290-303
Number of pages14
JournalCurrent Opinion in Genetics and Development
Volume22
Issue number3
DOIs
StatePublished - Jun 2012

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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