Skip Navigation


Human Molecular Genetics Advance Access originally published online on January 6, 2006
Human Molecular Genetics 2006 15(5):667-677; doi:10.1093/hmg/ddi468
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Material
Right arrow All Versions of this Article:
15/5/667    most recent
ddi468v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (36)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Yen, H.-J.
Right arrow Articles by Slusarski, D. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Yen, H.-J.
Right arrow Articles by Slusarski, D. C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Hsan-Jan Yen1,2,{dagger}, Marwan K. Tayeh1,2,{dagger}, Robert F. Mullins3, Edwin M. Stone1, Val C. Sheffield1,* and Diane C. Slusarski2

1Howard Hughes Medical Institute, 2Department of Biological Sciences and 3Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA

* To whom correspondence should be addressed at: Department of Pediatrics, Division of Medical Genetics, Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA. Tel: +1 3193356898; Fax: +1 3193357588; Email: val-sheffield{at}uiowa.edu

Received November 9, 2005; Revised December 22, 2005; Accepted December 30, 2005

Bardet–Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do not appear to belong to the same functional category; yet mutation of these genes results in a nearly identical pleiotropic phenotype. Although the precise functions of the BBS proteins have yet to be determined, current data support a role in cilia function and intraflagellar transport. To gain insight into the biological processes controlled by BBS genes, we embarked on studies of six BBS orthologues from zebrafish. Knockdown of zebrafish bbs2, bbs4, bbs5, bbs6, bbs7 or bbs8 results in disruption of Kupffer's vesicle (KV), a ciliated organ thought to play a role in left–right patterning. KV defects are due to a progressive loss of cilia within the vesicle and result in subsequent alterations to organ laterality. We also note a specific defect altering retrograde melanosome transport. These studies are the first to comprehensively compare the diverse group of BBS genes in parallel and demonstrate a common role in intracellular trafficking, indicating that BBS proteins are involved in general organelle trafficking.

{dagger} These authors contributed equally.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Neurosci.Home page
T. Yamashita, J. Liu, J. Gao, S. LeNoue, C. Wang, J. Kaminoh, S. J. Bowne, L. S. Sullivan, S. P. Daiger, K. Zhang, et al.
Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
J. Neurosci., August 5, 2009; 29(31): 9748 - 9760.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Locke, C. L. Tinsley, M. A. Benson, and D. J. Blake
TRIM32 is an E3 ubiquitin ligase for dysbindin
Hum. Mol. Genet., July 1, 2009; 18(13): 2344 - 2358.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Seo, D.-F. Guo, K. Bugge, D. A. Morgan, K. Rahmouni, and V. C. Sheffield
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
Hum. Mol. Genet., April 1, 2009; 18(7): 1323 - 1331.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
S. Aw and M. Levin
Is left-right asymmetry a form of planar cell polarity?
Development, February 1, 2009; 136(3): 355 - 366.
[Abstract] [Full Text] [PDF]

Home page
 Arch Gen PsychiatryHome page
A. Kamiya, P. L. Tan, K.-i. Kubo, C. Engelhard, K. Ishizuka, A. Kubo, S. Tsukita, A. E. Pulver, K. Nakajima, N. G. Cascella, et al.
Recruitment of PCM1 to the Centrosome by the Cooperative Action of DISC1 and BBS4: A Candidate for Psychiatric Illnesses
Arch Gen Psychiatry, September 1, 2008; 65(9): 996 - 1006.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. K. Tayeh, H.-J. Yen, J. S. Beck, C. C. Searby, T. A. Westfall, H. Griesbach, V. C. Sheffield, and D. C. Slusarski
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
Hum. Mol. Genet., July 1, 2008; 17(13): 1956 - 1967.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. S. Shah, S. L. Farmen, T. O. Moninger, T. R. Businga, M. P. Andrews, K. Bugge, C. C. Searby, D. Nishimura, K. A. Brogden, J. N. Kline, et al.
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
PNAS, March 4, 2008; 105(9): 3380 - 3385.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Biol. CellHome page
S. Hirayama, Y. Yamazaki, A. Kitamura, Y. Oda, D. Morito, K. Okawa, H. Kimura, D. M. Cyr, H. Kubota, and K. Nagata
MKKS Is a Centrosome-shuttling Protein Degraded by Disease-causing Mutations via CHIP-mediated Ubiquitination
Mol. Biol. Cell, March 1, 2008; 19(3): 899 - 911.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
I. Schneider, D. W. Houston, M. R. Rebagliati, and D. C. Slusarski
Calcium fluxes in dorsal forerunner cells antagonize -catenin and alter left-right patterning
Development, January 1, 2008; 135(1): 75 - 84.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
B. Sarmah, V. P. Winfrey, G. E. Olson, B. Appel, and S. R. Wente
A role for the inositol kinase Ipk1 in ciliary beating and length maintenance
PNAS, December 11, 2007; 104(50): 19843 - 19848.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
R. E. Swiderski, D. Y. Nishimura, R. F. Mullins, M. A. Olvera, J. L. Ross, J. Huang, E. M. Stone, and V. C. Sheffield
Gene Expression Analysis of Photoreceptor Cell Loss in Bbs4-Knockout Mice Reveals an Early Stress Gene Response and Photoreceptor Cell Damage
Invest. Ophthalmol. Vis. Sci., July 1, 2007; 48(7): 3329 - 3340.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
T. Benzing, M. Simons, and G. Walz
Wnt Signaling in Polycystic Kidney Disease
J. Am. Soc. Nephrol., May 1, 2007; 18(5): 1389 - 1398.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
Y. Wang and J. Nathans
Tissue/planar cell polarity in vertebrates: new insights and new questions
Development, February 15, 2007; 134(4): 647 - 658.
[Abstract] [Full Text] [PDF]

Home page
 DevelopmentHome page
B. W. Bisgrove and H. J. Yost
The roles of cilia in developmental disorders and disease
Development, November 1, 2006; 133(21): 4131 - 4143.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. P. Chiang, J. S. Beck, H.-J. Yen, M. K. Tayeh, T. E. Scheetz, R. E. Swiderski, D. Y. Nishimura, T. A. Braun, K.-Y. A. Kim, J. Huang, et al.
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
PNAS, April 18, 2006; 103(16): 6287 - 6292.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.