Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731
Knorz, Victoria J., Spalluto, Cosma, Lessard, Mark, Purvis, Tracey L., Adigun, Fiona F., Collin, Gayle B., Hanley, Neil A., Wilson, David I. and Hearn, Thomas (2010) Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Molecular Biology of the Cell, 21, (12), 3617-3629. (doi:10.1091/mbc.E10-03-0246). (PMID:20844083).
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Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects. ALMS1 protein localizes to the centrosome and has been implicated in the assembly and/or maintenance of primary cilia, however its precise function, distribution within the centrosome and mechanism of centrosomal recruitment are unknown. The C-terminus of ALMS1 contains a region with similarity to the uncharacterized human protein C10orf90, termed the ALMS motif. Here, we show that a third human protein, the candidate centrosomal protein KIAA1731, contains an ALMS motif, and that exogenously expressed KIAA1731 and C10orf90 localize to the centrosome. However, based on deletion analysis of ALMS1, the ALMS motif appears unlikely to be critical for centrosomal-targeting. RNAi analyses suggest that C10orf90 and KIAA1731 have roles in primary cilium assembly and centriole formation/stability respectively. We also show that ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies, where it colocalizes with the centrosome cohesion protein C-Nap1. RNAi analysis reveals markedly diminished centrosomal levels of C-Nap1 and compromised cohesion of parental centrioles in ALMS1-depleted cells. In summary, these data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1.
|Subjects:||Q Science > QH Natural history > QH426 Genetics
Q Science > QR Microbiology
|Divisions:||University Structure - Pre August 2011 > School of Medicine > Human Genetics
|Date Deposited:||05 Oct 2010 11:57|
|Last Modified:||24 Jul 2012 01:21|
|Contributors:||Knorz, Victoria J. (Author)
Spalluto, Cosma (Author)
Lessard, Mark (Author)
Purvis, Tracey L. (Author)
Adigun, Fiona F. (Author)
Collin, Gayle B. (Author)
Hanley, Neil A. (Author)
Wilson, David I. (Author)
Hearn, Thomas (Author)
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