Abstract: TSG101 is a tumor susceptibility gene whose homozygous functional knock out in fibroblasts leads to transformation and the ability of these cells to form metastatic tumors in nude mice. The cellular transformation that results from inactivation of TSG101 is reversible by restoration of TSG101 function. Decreased expression of TSG101 is associated with the occurrence of certain human cancers, including breast carcinomas. The TSG101 nucleic acid compositions find use in identifying homologous or related proteins and the DNA sequences encoding such proteins; in producing compositions that modulate the expression or function of the protein; and in studying associated physiological pathways. In addition, modulation of the gene activity in vivo is used for prophylactic and therapeutic purposes, such as treatment of cancer, identification of cell type based on expression, and the like.

Abstract: A method for treating a mammal with a demyelinating disease associated with an immunological disorder comprising administering methylcobalamin or cyanocobalamin.

Abstract: Protein complexes consisting of a cyclin dependent kinase CDK4 and cyclin D control passage through the G1 checkpoint of the cell cycle by phosphorylating the retinoblastoma protein. The ability of these complexes to phosphorylate RB is inhibited by a family of low molecular weight proteins, including p16, p15 and p18. Germline mutations in the p16 gene have been identified in approximately half of families with hereditary A mutation is described in CDK4 in two unrelated melanoma families that do not carry germline p16 mutations. This CDK4-R24C mutation was detected in 11/11 melanoma patients, 2/17 unaffecteds and 0/5 spouses. This mutation has a specific effect of the p16 binding domain of CDK4, but has no effect on its ability to bind cyclin D and form a functional kinase. Therefore, the germline R24C mutation in CDK4 generates a dominant oncogene that is resistant to normal physiological inhibition by p16.

Abstract: The gene responsible for an autosomal dominant con-rod retinal dystrophy is identified, TULP2. The genes are used to produce the encoded protein; in screening for compositions that modulate the expression or function of TULP2 protein; and in studying associated physiological pathways.