Summary
We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese population. Family and population studies indicate that three phenotypes are determined by two common alleles at a single autosomal locus. Since the polypeptide is mainly present in cytosol of cells, we propose that the polypeptide be temporarily designated as cytosol polypeptide with mol. wt. of 38,000 (CP 38) and that the gene for CP 38 be designated as CP 38. The gene frequencies of two common alleles (CP 38 1 and CP 38 2) are 0.899 and 0.101, respectively, in a Japanese population. The data on gel filtration of cytosol proteins on a Sephadex G-100 column suggest that CP 38 exists as a dimer in the cytosol. CP 38 was observed in the wide range of different cells, including B-lymphoblastoid cells, adult skin fibroblasts, HeLa cells, and erythrocytes. In 11 out of 72 individuals, the phenotypes of CP 38 were different from those of adenosine deaminase which is similar to CP 38 in subunit size, cell distribution, and allele frequencies. These data indicate that CP 38 is a new polymorphic polypeptide encoded by an autosomal locus.
Similar content being viewed by others
References
Anderson L (1981) Identification of mitochondrial proteins and some of their precursors in two-dimensional gel electrophoretic maps of human cells. Proc Natl Acad Sci USA 78: 2407–2411
Goldman D, Merril CR (1983) Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis. Am J Hum Genet 35: 827–837
Hamaguchi H, Ohta A, Mukai R, Yabe T, Yamada M (1981) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 1. Detection of genetic variant polypeptides in PHA-stimulated peripheral blood lymphocytes. Hum Genet 59: 215–220
Hamaguchi H, Yamada M, Shibasaki M, Fujii K, Mukai R, Yabe T, Kondo I (1982a) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 2. Genetic polymorphism of lymphocyte cytosol 64K polypeptide. Hum Genet 60: 176–180
Hamaguchi H, Yamada M, Shibasaki M, Noguchi A, Mukai R, Yabe T, Kondo I (1982b) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. 3. Frequent occurrence of genetic variants in some abundant polypeptides of PHA-stimulated peripheral blood lymphocytes. Hum Genet 62: 142–147
Hamaguchi H, Yamada M, Shibasaki M, Kondo I (1982c) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: 4. Genetic polymorphism of cytosol 100K polypeptide. Hum Genet 62: 148–151
Kondo I, Yamakawa K, Shibasaki M, Yamamoto T, Hamaguchi H (1984a) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: V. Genetic polymorphism of cytosol 31K polypeptide. Hum Genet 66: 244–247
Kondo I, Yamamoto T, Yamakawa K, Harada S, Oishi H, Nishigaki I, Hamaguchi H (1984b) Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: VI. Identification of esterase D in the two-dimensional gel electrophoresis pattern of cellular proteins. Hum Genet 66: 248–251
Kondo I, Nishigaki I, Yamakawa K, Hamaguchi H (1984c) The esterase D polymorphism: Analysis of esterase D 7 by two-dimensional gel electrophoresis. Jinrui Idengaku Zasshi 29: 27–30
Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ (1951) protein measurement with Folin phenol reagent. J Biol Chem 193: 265–275
McKusick VA (1983) No. 15343. Lymphocyte cytosol polypeptide, molecular weight 64,000 (LCP1). In: Mendelian inheritance in man, 6th edn. The Johns Hopkins University Press, Baltimore London, p 338
Merril CR, Goldman D, Sedman SA, Ebert MH (1981) Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins. Science 211: 1437–1438
O'Farrell PH (1975) High resolution two-dimensional electrophoresis. J Biol Chem 250: 4007–4021
Shinoda T (1970) Polymorphism of red cell adenosine deaminase in the Japanese population. Jinrui Idengaku Zasshi 45: 147–152
Siess EA (1983) Influence of isolation media on the preservation of mitochondrial functions. Z Physiol Chem 364: 279–290
Spencer N, Hopkinson DA, Harris H (1968) Adenosine deaminase polymorphism in man. Ann Hum Genet 32: 9–14
Van den Weyden MB, Kelly EI (1976) Human adenosine deaminase: Distribution and properties. J Biol Chem 251: 5448–5456
Ward P, Packman S, Loughman W, Sparkes M, Sparkes R, McMahon A, Gregory T, Ablin A (1984) Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. J Med Genet 21: 92–95
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kondo, I., Yamamoto, T., Yamakawa, K. et al. Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. Hum Genet 70, 328–332 (1985). https://doi.org/10.1007/BF00295371
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00295371