Molecular Characterization of Sialophorin (CD43), the Lymphocyte Surface Sialoglycoprotein Defective in Wiskott-Aldrich Syndrome

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 86; no. 8; pp. 2819 - 2823
• Main Authors: Shelley, C. Simon, Remold-O'Donnell, Eileen, Davis, Alvin E., Gail A. P. Bruns, Rosen, Fred S., Carroll, Michael C., Whitehead, Alexander S.
• Format: Journal Article
• Language: English
• Published: Washington, DC National Academy of Sciences of the United States of America 01.04.1989; National Acad Sciences
• Subjects: 550200 - Biochemistry; AMINO ACID SEQUENCE; Amino acids; ANIMAL CELLS; ANIMALS; ANTIBODIES; Antigens, CD; Antigens, Differentiation - genetics; Base Sequence; BASIC BIOLOGICAL SCIENCES; BETA DECAY RADIOISOTOPES; BETA-MINUS DECAY RADIOISOTOPES; Biological and medical sciences; Biological Evolution; BIOLOGICAL MATERIALS; BLOOD; BLOOD CELLS; BLOOD PLATELETS; Blotting, Northern; BODY FLUIDS; Cell lines; CHEMICAL ACTIVATION; Chlorocebus aethiops; CHROMOSOMES; Chromosomes, Human, Pair 16; Cloning, Molecular; Complementary DNA; CONNECTIVE TISSUE CELLS; COS cells; DAYS LIVING RADIOISOTOPES; DISEASES; DNA; DNA - genetics; DNA SEQUENCING; ETIOLOGY; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation; Genes. Genome; GENETIC MAPPING; GLYCOPROTEINS; HEREDITARY DISEASES; HETEROCHROMOSOMES; Humans; ISOTOPES; LEUKOCYTES; Leukosialin; LIGHT NUCLEI; LYMPHOCYTES; MAMMALS; MAN; MAPPING; MATERIALS; Membrane Glycoproteins - genetics; MEMBRANE PROTEINS; MESSENGER-RNA; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; MOLECULAR STRUCTURE; Molecular weight; Molecules; MONOCLONAL ANTIBODIES; NUCLEI; NUCLEIC ACIDS; Nucleotides; ODD-ODD NUCLEI; ORGANIC COMPOUNDS; PHOSPHORUS 32; PHOSPHORUS ISOTOPES; PRIMATES; PROTEINS; RADIOISOTOPES; RNA; RNA, Messenger - genetics; Sialoglycoproteins - genetics; SOMATIC CELLS; Stem cells; STRUCTURAL CHEMICAL ANALYSIS; T lymphocytes; VERTEBRATES; Wiskott-Aldrich Syndrome - genetics; X CHROMOSOME; Sialoglycoproteins; Nucleotide sequence; Wiskott Aldrich syndrome; Blotting assay; Immune deficiency; Lymphocyte; Aminoacid sequence
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.86.8.2819

Sialophorin (CD43) of leukocytes and platelets is a surface sialoglycoprotein that is phenotypically defective on lymphocytes of patients with the X chromosome-linked immunodeficiency Wiskott-Aldrich syndrome. Previous studies with monoclonal antibodies indicate that sialophorin is a component of a T-lymphocyte activation pathway. Here we describe the cDNA cloning and derived amino acid sequence of human sialophorin. The sequence predicts an integral membrane polypeptide with an N-terminal hydrophobic signal region followed by a mucin-like 235-residue extracellular region with a uniform distribution of 46 serine, 47 threonine, and 24 proline residues. This is followed by a 23-residue transmembrane region and a 123-residue C-terminal intracellular region. These latter regions have been highly conserved during evolution; the intracellular region contains a number of potential phosphorylation sites that might mediate transduction of activation signals. The chromosomal location of the sialophorin gene was determined and the implications of this assignment for the pathogenesis of the Wiskott-Aldrich syndrome are discussed.