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First published online February 23, 2005

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Errant chaperone in Bardet-Biedl syndrome

So far, eight genes have been linked to Bardet-Biedl syndrome (BBS), a human disorder characterised by obesity, retinal degeneration, kidney dysfunction and other ailments. MKKS/BBS6, which is also mutated in the developmental disorder McKusick-Kaufman syndrome, is among the least understood of the BBS-linked proteins, but now Michel Leroux and co-authors report that MKKS/BBS6 is a divergent group-II-chaperonin-like protein that is required for cytokinesis (see p. 1007). They show that BBS6 evolved recently from a subunit of CCT, the eukaryotic cytosolic chaperonin. However, unlike chaperonins, BBS6 resides mostly within the pericentriolar material, and its localization is disrupted by disease-linked mutations within its apical domain. The authors provide evidence for a centrosomal role for BBS6 by showing that knocking down BBS6 causes cytokinesis defects. Finally, because BBS6 is enriched in tissues containing ciliated cells, the authors propose that, like other BBS proteins examined, BBS6 may have a basal body/ciliary function that, when lost through mutation, causes Bardet-Biedl syndrome.

Related articles in JCS:

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

Jun Chul Kim, Young Y. Ou, Jose L. Badano, Muneer A. Esmail, Carmen C. Leitch, Elsa Fiedrich, Philip L. Beales, John M. Archibald, Nicholas Katsanis, Jerome B. Rattner, and Michel R. Leroux
JCS 2005 118: 1007-1020. [Abstract] [Full Text]  

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Related articles in JCS Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Search for Related Content