Towards understanding the function of the tubby gene family in the retina

Advances in Experimental Medicine and Biology

Volumn 533, Issue , 2003, Pages 309-314

  Ikeda, Sakae ^b   Ikeda, Akihiro ^b   Naggert, Jürgen K ^b   Nishina, Patsy M ^a  

^a JACKSON LABORATORY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TUBBY LIKE PROTEIN 1; TUBBY LIKE PROTEIN 2; TUBBY LIKE PROTEIN 3; UNCLASSIFIED DRUG;

CONFERENCE PAPER; EMBRYO DEATH; GENE FUNCTION; GENE IDENTIFICATION; GENE ISOLATION; GENE MUTATION; GENETIC CONSERVATION; HUMAN; MULTIGENE FAMILY; NERVE CELL; NEURAL TUBE DEFECT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RETINA DEGENERATION; RETINITIS PIGMENTOSA; TUBBY GENE; X RAY CRYSTALLOGRAPHY;

EID: 0347532863     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-0067-4_38     Document Type: Conference Paper

References (23)

1. Alström, C. H., Hallgren, B., Nilsson, L. B., Åsander, H., 1959, Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree., Acta Psychiatr Neurol Scand. 34: 1-35.
2. Banerjee, P., Kleyn, P. W., Knowles, J. A., Lewis, C. A., Ross, B. M., Parano, E., Kovats, S. G., Lee, J. J., Penchaszadeh, G. K., Ott, J., Jacobson, S. G., Gilliam, T. C., 1998, TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa, Nat Genet. 18: 177-9.
3. Boggon, T. J., Shan, W. S., Santagata, S., Myers, S. C., Shapiro, L., 1999, Implication of tubby proteins as transcription factors by structure-based functional analysis, Science. 286: 2119-25.
4. Bray, G. A., 1995, Laurence, Moon, Bardet, and Biedl: reflections on a syndrome, Obes Res. 3: 383-6.
5. Coleman, D. L., Eicher, E. M., 1990, Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse, J Hered. 81: 424-7.
6. Gu, S., Lennon, A., Li, Y., Lorenz, B., Fossarello, M., North, M., Gal, A., Wright, A., 1998, Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa, Lancet. 351: 1103-4.
7. Hagstrom, S. A., Duyao, M., North, M. A., Li, T., 1999, Retinal degeneration in tulp1-/-mice: vesicular accumulation in the interphotoreceptor matrix, Invest Ophthalmol Vis Sci. 40: 2795-802.
8. Hagstrom, S. A., North, M. A., Nishina, P. L., Berson, E. L., Dryja, T. P., 1998, Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa, Nat Genet. 18: 174-6.
9. Haider, N. B., Ikeda, A., Naggert, J. K., Nishina, P. M., 2002, Genetic modifiers of vision and hearing, Hum Mol Genet. 11: 1195-206.
10. Heckenlively, J. R., Chang, B., Erway, L. C., Peng, C., Hawes, N. L., Hageman, G. S., Roderick, T. H., 1995, Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15, Proc Natl Acad Sci USA. 92: 11100-4.
11. Ikeda, A., Ikeda, S., Gridley, T., Nishina, P. M., Naggert, J. K., 2001, Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice, Hum Mol Genet. 10: 1325-34.
12. Ikeda, A., Nishina, P. M., Naggert, J. K., 2002a, The tubby-like proteins, a family with roles in neuronal development and function, J Cell Sci. 115: 9-14.
13. Ikeda, A., Zheng, Q. Y., Zuberi, A. R., Johnson, K. R., Naggert, J. K., Nishina, P. M., 2002b, Microtubule-associated protein 1A is a modifier of tubby hearing (moth1), Nat Genet. 30: 401-5.
14. Ikeda, S., He, W., Ikeda, A., Naggert, J. K., North, M. A., Nishina, P. M., 1999, Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina, Invest Ophthalmol Vis Sci. 40: 2706-12.
15. Ikeda, S., Shiva, N., Ikeda, A., Smith, R. S., Nusinowitz, S., Yan, G., Lin, T. R., Chu, S., Heckenlively, J. R., North, M. A., Naggert, J. K., Nishina, P. M., Duyao, M. P., 2000, Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene, Hum Mol Genet. 9: 155-63.
16. Kleyn, P. W., Fan, W., Kovats, S. G., Lee, J. J., Pulido, J. C., Wu, Y., Berkemeier, L. R., Misumi, D. J., Holmgren, L., Charlat, O., Woolf, E. A., Tayber, O., Brody, T., Shu, P., Hawkins, F., Kennedy, B., Baldini, L., Ebeling, C., Alperin, G. D., Deeds, J., Lakey, N. D., Culpepper, J., Chen, H., Glucksmann-Kuis, M. A., Moore, K. J., et al., 1996, Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family, Cell. 85: 281-90.
17. Lewis, C. A., Batlle, I. R., Batlle, K. G., Banerjee, P., Cideciyan, A. V., Huang, J., Aleman, T. S., Huang, Y., Ott, J., Gilliam, T. C., Knowles, J. A., Jacobson, S. G., 1999, Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration, Invest Ophthalmol Vis Sci. 40: 2106-14.
18. Milam, A. H., Hendrickson, A. E., Xiao, M., Smith, J. E., Possin, D. E., John, S. K., Nishina, P. M., 2000, Localization of tubby-like protein 1 in developing and adult human retinas, Invest Ophthalmol Vis Sci. 41: 2352-6.
19. Nishina, P. M., North, M. A., Ikeda, A., Yan, Y., Naggert, J. K., 1998, Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans, Genomics. 54: 215-20.
20. Noben-Trauth, K., Naggert, J. K., North, M. A., Nishina, P. M., 1996, A candidate gene for the mouse mutation tubby, Nature. 380: 534-8.
21. North, M. A., Naggert, J. K., Yan, Y., Noben-Trauth, K., Nishina, P. M., 1997, Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases, Proc Natl Acad Sci USA. 94: 3128-33.
22. Ohlemiller, K. K., Hughes, R. M., Lett, J. M., Ogilvie, J. M., Speck, J. D., Wright, J. S., Faddis, B. T., 1997, Progression of cochlear and retinal degeneration in the tubby (rd5) mouse, Audiol Neurootol. 2: 175-85.
23. Paloma, E., Hjelmqvist, L., Bayes, M., Garcia-Sandoval, B., Ayuso, C., Balcells, S., Gonzalez-Duarte, R., 2000, Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa, Invest Ophthalmol Vis Sci. 41: 656-9.