Human genetic deficits in glycan formation

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概要

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• Glycans are associated with most proteins found in secretions and on the surface of mammalian cells. Glycans of secreted glycoproteins affect many protein properties such as solubility, stability, protease sensitivity, and polarity, while glycans on cell surface glycoproteins are involved in various cellular functions including cell-cell and cell-matrix interactions during embryogenesis, immune reactions, and tumor development. Recent advances in human genomic research together with newly developed and sensitive methods for the analysis of glycan structures have elucidated the etiology of a growing number of human genetic diseases with aberrant glycan formation. Among these diseases, defects of protein N-glycosylation and O-mannosylation are reviewed here. The former is relatively common and the latter is rather uncommon. Both types of defects lead to severe abnormalities, which indicate the importance of glycosylation. Sequencing of the human genome is essentially complete and now glycobiology becomes an important area of postgenomic research. Glycobiology is expected to produce remarkable advances in the understanding and treatment of certain genetic diseases. (Communicated by Tamio YAMAKAWA, M.J.A.)

• 日本学士院の論文

著者

• Endo Tamao

  Glycobiology Research Group Tokyo Metropolitan Institute Of Gerontology

• ENDO Tamao

  Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology Foundation for Research on Aging and Promotion of Human Welfare

関連論文

• Glycosylation in Congenital Muscular Dystrophies
• Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy
• Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2
• Human genetic deficits in glycan formation
• Current Topics "New Era of Glycoscience: Intrinsic and Extrinsic Functions Performed by Glycans"—Foreword

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