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Human Molecular Genetics, 2000, Vol. 9, No. 2 155-163
© 2000 Oxford University Press

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Sakae Ikeda, Nima Shiva1, Akihiro Ikeda, Richard S. Smith, Steven Nusinowitz2, Grace Yan1, T. Richard Lin1, Sunny Chu1, John R. Heckenlively2, Michael A. North1, Jürgen K. Naggert, Patsy M. Nishina+ and Mabel P. Duyao1

The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA, 1AXYS Pharmaceuticals, Inc., La Jolla, CA 92037, USA and 2Jules Stein Eye Institute, Los Angeles, CA 90095, USA

The tub gene is a member of a small, well conserved neuronal gene family of unknown function. Mutations within this gene lead to early-onset blindness and deafness, as well as late-onset obesity and insulin resistance. To test the hypothesis that mutations within other members of this gene family would lead to similar phenotypes as observed in tubby mice, and hence have similar functional properties, we have generated null mutants of the tubby-like protein (Tulp) 1 gene by homologous recombination. Similarly to tubby mice, Tulp1–/– mice exhibit an early-onset retinal degeneration with a progressive, rapid loss of photoreceptors, further supporting the notion that previously identified mutations within the human TULP1 gene are indeed causative of retinitis pigmentosa. However, in contrast to tubby mice, Tulp1–/– mice exhibited normal hearing ability and, surprisingly, normal body weight despite the fact that both TUB and TULP1 are expressed in the same neurons within the hypothalamus in areas known to be involved in feeding behavior and energy homeo stasis. However, TUB and TULP1 show a distinctly different staining pattern in the nucleus of these neurons, perhaps explaining the difference in body weight between the Tulp1–/– and tubby mutant mice.

+ To whom correspondence should be addressed. Tel: +1 207 288 6384; Fax: +1 207 288 6079; Email: pmn@jax.org


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