Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

doi:10.7554/eLife.06602

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Article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

eLife - 30 May 2015

Roosing Susanne, Hofree Matan, Kim Sehyun, Scott Eric, Copeland Brett, Romani Marta, Silhavy Jennifer L, Rosti Rasim O, Schroth Jana, Mazza Tommaso, Miccinilli Elide, Zaki Maha S, Swoboda Kathryn J, Milisa-Drautz Joanne, Dobyns William B, Mikati Mohamed A, İncecik Faruk, Azam Matloob, Borgatti Renato, Romaniello Romina, Boustany Rose-Mary, Clericuzio Carol L, D'Arrigo Stefano, Strømme Petter, Boltshauser Eugen, Stanzial Franco, Mirabelli-Badenier Marisol, Moroni Isabella, Bertini Enrico, Emma Francesco, Steinlin Maja, Hildebrandt Friedhelm, Johnson Colin A, Freilinger Michael, Vaux Keith K, Gabriel Stacey B, Aza-Blanc Pedro, Heynen-Genel Susanne, Ideker Trey, Dynlacht Brian D, Lee Ji Eun, Valente Enza Maria, Kim Joon, Gleeson Joseph G

Abstract excerpt

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a...

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Identifiers

PMID: 26026149
DOI: 10.7554/eLife.06602
PMCID: PMC4477441

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