Analysis of genes for UDP-GT in Gilbert's sundrome and of neonatal cerebellar disorganization in model animals

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Gilbert's syndrome is characterised by unconjugated hyperbilirubinemia due to partial absence of bilirubin UDP-glucuronosyltransferase. Nucleotide sequences of the genes for bilirubin UDPglucuronosyltransferase were analysed in umbilical blood. Some babies had a missense mutations coused by a single nucliotide substitution and the mutations were heterozygous. The babies had an abnormality in the promoter region of the gene (estra TAin TATAA box). In addition, relatives of patients with Crigler-Najjar syndrome Type I and II, and those with Gilbert's syndrome were analysed. All relatives with mild hyperbilirubinemia were heterozygotes with respect to each defective allele. These results suggest that Gilbert's syndrome is inherited as a dominant trait.Proteoglycans are some of the major constituents of the extra cellular matrix and cell membranes. They are located at cell surface and extra cellular space, not only in connective tissues but also in central nervous system. In developing brain, neuroglycan C, neurocan, neuregulin, and amphoterin are presnt and preisely regulated. The structure of neuroglycan C changes from a proteoglycan form to a nonproteoglycan form without chondroiti sulfate side chanis as the cerebellar development proceeds. The rapid appearance of chondroitinsulfate conjugated neuregulin was observed in the adult rat brain which was surgically injured. The poly saccharide side chain may play important roles in various cellular processes such as cell proliferation and neuronal circuits formation. It is also showed that the subsets of suckling rat cerebellar neurons possess different classes of oligosaccharide conjugated amphoterin, and their conjugation dramatically changes during the developmental prograss. In the nucleus of external granule neuron, oligosaccharide conjugated amphoterin strongly combined with lectin-like proteins, then the complex may combined with DNA. The oligosaccaride-free amphoterin are soluble in the matrix of nucleus.