Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Nature

Volumn 425, Issue 6958, 2003, Pages 628-633

  Ansley, Stephen J ^a   Badano, Jose L ^a   Blacque, Oliver E ^c   Hill, Josephine ^d   Hoskins, Bethan E ^a,d   Leitch, Carmen C ^a   Kim, Jun Chul ^c   Ross, Alison J ^d   Eichers, Erica R ^e   Teslovich, Tanya M ^a   Mah, Allan K ^c   Johnsen, Robert C ^c   Cavender, John C ^f   Lewis, Richard Alan ^e   Leroux, Michel R ^c   Beales, Philip L ^d   Katsanis, Nicholas ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c SIMON FRASER UNIVERSITY   (Canada)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; GENES; PROTEINS; VISION;

PROKARYOTES;

BIODIVERSITY;

GENE PRODUCT; PROTEIN PCM1; PROTEIN PILF; PROTEIN RFX; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

MEDICINE;

ARTICLE; BARDET BIEDL SYNDROME; BBS8 GENE; CILIATED EPITHELIUM; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE INTERACTION; GENE LOCATION; GENETIC CODE; HUMAN; HUMAN CELL; KIDNEY MALFORMATION; KINETOSOME; LUNG; MALE; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN DOMAIN; RANDOMIZATION; RETINA DYSTROPHY;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CAENORHABDITIS ELEGANS; CELL LINE; CENTROSOME; CILIA; FEMALE; GENE DELETION; GENE EXPRESSION PROFILING; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONS; PEDIGREE; PROTEINS; RNA, MESSENGER;

CAENORHABDITIS; CAENORHABDITIS ELEGANS; PROKARYOTA;

EID: 0142104970     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02030     Document Type: Article

References (29)

1. Badano, J. L. et al. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am. J. Hum. Genet. 72, 650-658 (2003).
2. Slavotinek, A. M. et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genet. 26, 15-16 (2000).
3. Katsanis, N. et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genet. 26, 67-70 (2000).
4. Nishimura, D. Y. et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum. Mol. Genet. 10, 865-874 (2001).
5. Mykytyn, K. et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genet. 31, 435-438 (2002).
6. Mykytyn, K. et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genet. 28, 188-191 (2001).
7. Beales, P. L. et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am. J. Hum. Genet. 72, 1187-1199 (2003).
8. Katsanis, N. et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 293, 2256-2259 (2001).
9. Badano, J. L. & Katsanis, N. Beyond Mendel: an evolving view of human genetic disease transmission. Nature Rev. Genet. 3, 779-789 (2002).
10. Katsanis, N. et al. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71, 22-29 (2002).
11. Maurer, L. & Orndorff, P. E. Identification and characterization of genes determining receptor binding and pilus length of Escherichia coli type 1 pili. J. Bacteriol. 169, 640-645 (1987).
12. Merz, A. J., So, M. & Sheetz, M. P. Pilus retraction powers bacterial twitching motility. Nature 407, 98-102 (2000).
13. Nonaka, S. et al. Randomization of left-right symmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95, 829-837 (1998).
14. Dammermann, A. & Merdes, A. Assembly of centrosomal proteins and microtubule organization depends on PCM-1. J. Cell Biol. 159, 255-266 (2002).
15. Kubo, A., Sasaki, H., Yuba-Kubo, A., Tsukita, S. & Shiina, N. Centriolar satellites: Molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis. J. Cell Biol. 147, 969-979 (1999).
16. Rosenbaum, J. L. & Witman, G. B. Intraflagellar transport. Nature Mol. Cell Biol. 3, 813-825 (2002).
17. Haycraft, C. J., Swoboda, P., Taulman, P. D., Thomas, J. H. & Yoder, B. K. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Development 128, 1493-1505 (2001).
18. Fujiwara, M., Ishihara, T. & Katsura, I. A novel WD40 protein, CHE-2, acts cell-autonomously in the formation of C. elegans sensory cilia. Development 126, 4839-4848 (1999).
19. Swoboda, P., Adler, H. T. & Thomas, J. H. The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans. Mol. Cell 5, 411-421 (2000).
20. Okada, Y. et al. Abnormal nodal flow precedes situs inversus in iv and inv mice. Mol. Cell 4, 459-468 (1999).
21. Pazour, G. J. et al. The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J. Cell Biol. 157, 103-113 (2002).
22. Marszalek, J. R. et al. Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell 102, 175-187 (2000).
23. Nauli, S. M. et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nature Genet. 33, 129-137 (2003).
24. Hou, X. et al. Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J. Clin. Invest. 109, 533-540 (2002).
25. Morgan, D. et al. Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Hum. Mol. Genet. 15, 3345-3350 (2002).
26. Watanabe, D. et al. The left-right determinant Inversin is a component of node monocilia and other 9 + 0 cilia. Development 130, 1725-1734 (2003).
27. 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).
28. Hobert, O. PCR fusion-based approach to create reporter gene constructs for expression analysis in transgenic C. elegans. Biotechniques 32, 728-730 (2002).
29. Brenner, S. The genetics of Caenorhabditis elegans. Genetics 77, 71-94 (1974).