Compositions for the diagnosis and treatment of chediak-higashi syndrome

Abstract

The present invention relates to the identification of novel nucleic acid molecules and proteins encoded by such nucleic acid molecules or degenerate variants thereof, that participate in the differentiation and / or function of intracellular vesicles. The nucleic acid molecules of the present invention represent the genes corresponding to the mammalian bg gene, a gene that, when mutated, is responsible for the human Chediak-Higashi syndrome.

Description

[0001] This application claims priority under 35 U.S.C. .sctn.119(e) to U.S. provisonal application Serial No. 60 / 021,064, filed Jul. 1, 1996, U.S. provisonal application Serial No. 60 / 015,673, filed Apr. 19, 1996 and U.S. provisonal application Serial No. 60 / 013,883, filed Mar. 22, 1996, each of which is incorporated herein by reference in its entirety.1. INTRODUCTION[0002] The present invention relates to the identification of novel nucleic acid molecules and proteins encoded by such nucleic acid molecules or degenerate, especially naturally occurring, variants thereof, that, when mutated, lead to disorders involving abnormal intracellular vesicles, especially abnormal lysosomes, melanosomes, platelet dense granules and cytolytic granules, including Chediak-Higashi syndrome (CHS). The nucleic acid molecules of the present invention represent the genes corresponding to the mammalian bg gene, including the human bg gene, which are involved in the normal differentiation and / or functi...

AI Technical Summary

Problems solved by technology

Further, neural degeneration is observed and, finally, the occurrence of a mononuclear cell lymphoma develops, which causes the death of afflicted individuals.

The abnormal size of these vesicles is thought to result from a malregulation of vesicle fusion or fission.

Such studies, however, were not able to elucidate either the function or the identity of the bg gene product.

Upon further examination, though, each of these theories has been found to be inadequate, thus highlighting the fact that a great need remains for the discovery of the causative agent of the lethal Chediak-Higashi syndrome genetic disorder.

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