Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

Proceedings of the National Academy of Sciences of the United States of America

Volumn 101, Issue 47, 2004, Pages 16588-16593

  Nishimura, Darryl Y ^a   Fath, Melissa ^a   Mullins, Robert F ^b   Searby, Charles ^a,b   Andrews, Michael ^a,b   Davis, Roger ^a,b   Andorf, Jeaneen L ^b   Mykytyn, Kirk ^c   Swiderski, Ruth E ^a   Yang, Baoli ^b   Carmi, Rivka ^d   Stone, Edwin M ^b   Sheffield, Val C ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Bardet Biedl syndrome; Mouse model; Obesity

Indexed keywords

RHODOPSIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BARDET BIEDL SYNDROME; BSB2 GENE; CELL DEATH; CONTROLLED STUDY; DIABETES MELLITUS; DOMINANCE BEHAVIOR; GENE; GENE EXPRESSION REGULATION; HYPOGONADISM; MALE INFERTILITY; MOUSE; NONHUMAN; NULL CELL; OBESITY; PHOTORECEPTOR CELL; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINOPATHY;

ANIMALS; APOPTOSIS; BARDET-BIEDL SYNDROME; CILIA; DISEASE MODELS, ANIMAL; GENE TARGETING; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; MICE; MICE, KNOCKOUT; OBESITY; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; RETINITIS PIGMENTOSA; RHODOPSIN; SENSATION DISORDERS; SOCIAL DOMINANCE; SPERMATOGENESIS;

ANIMALIA;

EID: 9344261783     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0405496101     Document Type: Article

References (30)

1. Green, J. S., Parfrey, P. S., Harnett, J. D., Farid, N. R., Cramer, B. C., Johnson, G., Heath, O., McManamon, P. J., O'Leary, E. & Pryse-Phillips, W. (1989) N. Engl. J. Med. 321, 1002-1009.
2. Biedl, A. (1922) Dtsch. Med. Wochenschr. 48, 1630.
3. Bardet, G. (1920) Ph.D thesis (University of Paris, Paris).
4. Elbedour, K., Zucker, N., Zalzstein, E., Barki, Y. & Carmi, R. (1994) Am. J. Med. Genet. 52, 164-169.
5. Harnett, J. D., Green, J. S., Cramer, B. C., Johnson, G., Chafe, L., McManamon, P., Farid, N. R., Pryse-Phillips, W. & Parfrey, P. S. (1988) N. Engl. J. Med. 319, 615-618.
6. Mykytyn, K., Braun, T., Carmi, R., Haider, N. B., Searby, C. C., Shastri, M., Beck, G., Wright, A. F., Iannaccone, A., Elbedour, K.,et al. (2001) Nat. Genet. 28, 188-191.
7. Nishimura, D. Y., Searby, C. C., Carmi, R., Elbedour, K., Van Maldergem, L., Fulton, A. B., Lam, B. L., Powell, B. R., Swiderski, R. E., Bugge, K. E., et al. (2001) Hum. Mol. Genet. 10, 865-874.
8. Katsanis, N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S. & Lupski, J. R. (2000) Nat. Genet. 26, 67-70.
9. Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C. & Biesecker, L. G. (2000) Nat. Genet. 26, 15-16.
10. Mykytyn, K., Nishimura, D. Y., Searby, C. C., Shastri, M., Yen, H. J., Beck, J. S., Braun, T., Streb, L. M., Cornier, A. S., Cox, G. F., et al. (2002) Nat. Genet. 31, 435-438.
11. Badano, J. L., Ansley, S. J., Leitch, C. C., Lewis, R. A., Lupski, J. R. & Katsanis, N. (2003) Am. J. Hum. Genet. 72, 650-658.
12. Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., et al. (2003) Nature 425, 628-633.
13. Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May-Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., et al. (2004) Cell 117, 541-552.
14. Chiang, A. P., Nishimura, D., Searby, C., Elbedour, K., Carmi, R., Ferguson, A. L., Secrist, J., Braun, T., Casavant, T., Stone, E. M., et al. (2004) Am. J. Hum. Genet. 75, 475-484.
15. Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., et al. (2004) Nat. Genet. 36, 989-993.
16. Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L. & Lupski, J. R. (2001) Science 293, 2256-2259.
17. Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M. & Biesecker, L. G. (2000) Nat. Genet. 25, 79-82.
18. Robinow, M. & Shaw, A. (1979) J. Pediatr. 94, 776-778.
19. Frydman, J., Nimmesgern, E., Erdjument-Bromage, H., Wall, J. S., Tempst, P. & Hartl, F. U. (1992) EMBO J. 11, 4767-4778.
20. Mykytyn, K., Mullin, R. F., Andrews, M., Chiang, A. P., Swiderski, R. E., Yang, B., Braun, T., Casavant, T., Stone, E. M. & Sheffield, V. C. (2004) Proc. Natl. Acad. Sci. USA 101, 8664-8669.
21. Kim, J. C., Badano, J. L., Sibold, S., Esmail, M. A., Hill, J., Hoskins, B. E., Leitch, C. C., Venner, K., Ansley, S. J., Ross, A. J., et al. (2004) Nat. Genet. 36, 462-470.
22. Johnson, L. V. & Blanks, J. C. (1984) Curr. Eye Res. 3, 969-974.
23. Russell, S. R., Mullins, R. F., Schneider, B. L. & Hageman, G. S. (2000) Am. J. Ophthalmol. 129, 205-214.
24. Swiderski, R. E., Ying, L., Cassell, M. D., Alward, W. L., Stone, E. M. & Sheffield, V. C. (1999) Mol. Brain Res. 68, 64-72.
25. Rogers, D., Fisher, E., Brown, S., Peters, J., Hunter, A. & Martin, J. (1997) Mamm. Genome 8, 711-713.
26. Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C. X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., et al. (1997) Cell 90, 895-905.
27. Crawley, J. N. (1999) Brain Res. 835, 18-26.
28. Gao, J., Cheon, K., Nusinowitz, S., Liu, Q., Bei, D., Atkins, K., Azimi, A., Daiger, S. P., Farber, D. B., Heckenlively, J. R., et al. (2002) Proc. Natl. Acad. Sci. USA 99, 5698-5703.
29. Cantiello, H. F. (2003) Trends Mol. Med. 9, 234-236.
30. Kulaga, H. M., Leitch, C. C., Eichers, E. R., Badano, J. L., Lesemann, A., Hoskins, B. E., Lupski, J. R., Beales, P. L., Reed, R. R. & Katsanis, N. (2004) Nat. Genet. 36, 994-998.