Ofd1, a human disease gene, regulates the length and distal structure of centrioles
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Ofd1, a human disease gene, regulates the length and distal structure of centrioles

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Ofd1, a human disease gene, regulates the length and distal structure of centrioles

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dc.contributor.author Singla, Veena es_ES
dc.contributor.author Romaguera-Ros, Miriam es_ES
dc.contributor.author García Verdugo, José Manuel es_ES
dc.contributor.author Reiter, Jeremy F. es_ES
dc.date.accessioned 2015-06-29T10:32:25Z
dc.date.available 2015-06-29T10:32:25Z
dc.date.issued 2010 es_ES
dc.identifier.uri http://hdl.handle.net/10550/44786
dc.description.abstract SUMMARYCentrosomes and their component centrioles represent the principal microtubule organizing centers of animal cells. Here we show that the gene underlying Orofaciodigital Syndrome 1, Ofd1, is a component of the distal centriole that controls centriole length. In the absence of Ofd1, distal regions of centrioles, but not procentrioles, elongate abnormally. These long centrioles are structurally similar to normal centrioles, but contain destabilized microtubules with abnormal post-translational modifications. Ofd1 is also important for centriole distal appendage formation and centriolar recruitment of the intraflagellar transport protein Ift88. To model OFD1 Syndrome in embryonic stem cells, we replaced the Ofd1 gene with missense alleles from human OFD1 patients. Distinct disease-associated mutations cause different degrees of excessive or decreased centriole elongation, all of which are associated with diminished ciliogenesis. Our results indicate that Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88, and stabilize centriolar microtubules at a defined length. es_ES
dc.source Vol. 18 Issue 3: pp. 410-424 es_ES
dc.title Ofd1, a human disease gene, regulates the length and distal structure of centrioles es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.identifier.doi 10.1016/j.devcel.2009.12.022 es_ES
dc.identifier.idgrec 059209 es_ES

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