Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature Genetics

Volumn 37, Issue 10, 2005, Pages 1135-1140

  Ross, Alison J ^a   May Simera, Helen ^a   Eichers, Erica R ^b   Kai, Masatake ^c   Hill, Josephine ^a   Jagger, Daniel J ^d   Leitch, Carmen C ^e   Chapple, J Paul ^f   Munro, Peter M ^f   Fisher, Shannon ^e   Tan, Perciliz L ^e   Phillips, Helen M ^g   Leroux, Michel R ^h   Henderson, Deborah J ^g   Murdoch, Jennifer N ⁱ   Copp, Andrew J ^a   Eliot, Marie Madeleine ^j   Lupski, James R ^b   Kemp, David T ^d   Dollfus, Hélène ^j,k   Tada, Masazumi ^c   Katsanis, Nicholas ^e   Forge, Andrew ^d   Beales, Philip L ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h SIMON FRASER UNIVERSITY   (Canada)

ⁱ MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^j UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^k UNIVERSITÉ DE STRASBOURG   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

WNT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; CELL MIGRATION; CELL POLARITY; CILIARY MOTILITY; COCHLEA; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; EPITHELIUM CELL; EYELID; GENE INTERACTION; GENE MUTATION; MITOSIS SPINDLE; MOUSE; NEURAL TUBE DEFECT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; VERTEBRATE;

ANIMALS; BARDET-BIEDL SYNDROME; CELL POLARITY; CILIA; COCHLEA; EPITHELIAL CELLS; EYELIDS; MICE; MICE, MUTANT STRAINS; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR CHAPERONES; MUTATION; NERVE TISSUE PROTEINS; NEURAL TUBE DEFECTS; ZEBRAFISH;

ANIMALIA; DANIO RERIO; VERTEBRATA;

EID: 27144460671     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1644     Document Type: Article

References (30)

1. Torban, E., Kor, C. & Gros, P. Van Gogh-like2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates. Trends Genet. 20, 570-577 (2004).
2. Keller, R. Shaping the vertebrate body plan by polarized embryonic cell movements. Science 298, 1950-1954 (2002).
3. Ansley, S.J. et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425, 628-633 (2003).
4. Li, J.B. et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117, 541-552 (2004).
5. Lu, X. et al. PTK7/CCK-4 is a novel regulator of planar cell polarity in vertebrates. Nature 430, 93-98 (2004).
6. Montcouquiol, M. et al. Identification of Vangl2 and Scrb1 as planar polarity genes in mammals. Nature 423, 173-177 (2003).
7. Curtin, J.A. et al. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr. Biol. 13, 1129-1133 (2003).
8. Beales, P.L. Lifting the lid on Panandora's box: the Bardet-Biedl syndrome. Curr. Opin. Genet. Dev. 15, 315-323 (2005).
9. Avidor-Reiss, T. et al. Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis. Cell 117, 527-539 (2004).
10. Blacque, O.E. et al. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev. 18, 1630-1642 (2004).
11. Kim, J.C. et al. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 36, 462-470 (2004).
12. Kulaga, H.M. et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat. Genet. 36, 994-998 (2004).
13. Mykytyn, K. et al. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Natl. Acad. Sci. USA 101, 8664-8669 (2004).
14. Nishimura, D.Y. et al. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc. Natl. Acad. Sci. USA 101, 16588-16593 (2004).
15. Fath, M.A. et al. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum. Mol. Genet. 14, 1109-1118 (2005).
16. Karmous-Benailly, H. et al. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am. J. Hum. Genet. 76, 493-504 (2005).
17. Frolenkov, G.I., Belyantseva, I.A., Friedman, T.B. & Griffith, A.J. Genetic insights into the morphogenesis of inner ear hair cells. Nat. Rev. Genet. 5, 489-498 (2004).
18. Kemp, D.T. Otoacoustic emissions, travelling waves and cochlear mechanisms. Hear. Res. 22, 95-104 (1986).
19. Carreira-Barbosa, F. et al. Prickle 1 regulates cell movements during gastrulation and neuronal migration in zebrafish. Development 130, 4037-4046 (2003).
20. Jessen, J.R. et al. Zebrafish trilobite identifies new roles for Strabismus in gastrulation and neuronal movements. Nat. Cell Biol. 4, 610-615 (2002).
21. Bingham, S., Higashijima, S., Okamoto, H. & Chandrasekhar, A. The Zebrafish trilobite gene is essential for tangential migration of branchiomotor neurons. Dev. Biol. 242, 149-160 (2002).
22. Kim, J.C. et al. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J. Cell Sci. 118, 1007-1020 (2005).
23. Simons, M. et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signalling pathways. Nat. Genet. 37, 537-543 (2005).
24. Zambrowicz, B.P. et al. Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells. Nature 392, 608-611 (1998).
25. Murdoch, J.N., Doudney, K., Paternotte, C., Copp, A.J. & Stanier, P. Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. Hum. Mol. Genet. 10, 2593-2601 (2001).
26. Beales, P.L., Elcioglu, N., Woolf, A.S., Parker, D. & Flinter, F.A. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J. Med. Genet. 36, 437-446 (1999).
27. Morrell, C.H., Gordon-Salant, S., Pearson, J.D., Brant, L.J. & Fozard, J.L. Age- and gender-specific reference ranges for hearing level and longitudinal changes in hearing level. J. Acoust. Soc. Am. 100, 1949-1967 (1996).
28. Denman-Johnson, K. & Forge, A. Establishment of hair bundle polarity and orientation in the developing vestibular system of the mouse. J. Neurocytol. 28, 821-835 (1999).
29. Ali, R.R. et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat. Genet. 25, 306-310 (2000).
30. Barth, K.A. & Wilson, S.W. Expression of zebrafish nk2.2 is influenced by sonic hedgehog/vertebrate hedgehog-1 and demarcates a zone of neuronal differentiation in the embryonic forebrain. Development 121, 1755-1768 (1995).