Download PDF
Thromb Haemost 1995; 74(02): 758-763
DOI: 10.1055/s-0038-1649809
Original Article
Platelets
Schattauer GmbH Stuttgart

Family Studies of Type II CD36 Deficient Subjects: Linkage of a CD36 Allele to a Platelet-Specific mRNA Expression Defect(s) Causing Type II CD36 Deficiency

Hirokazu Kashiwagi
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
,
Yoshiaki Tomiyama
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
,
Satoru Kosugi
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
,
Masamichi Shiraga
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
,
Robert H Lipsky
3   The Department of Biochemistry, The Jerome H. Holland Laboratory, American Red Cross, Japan
,
Nobuo Nagao
4   The Osaka Red Cross Blood Center, Japan
,
Yuzuru Kanakura
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
,
Yoshiyuki Kurata
2   The Department of Blood Transfusion, Osaka University Hospital, Japan
,
Yuji Matsuzawa
1   The Second Department of Internal Medicine, Osaka University Medical School, Japan
› Author Affiliations
Further Information

Publication History

Received 20 December 1994

Accepted 21 March 1995

Publication Date:
04 September 2018 (online)

Also available at
  PDF Download  Permissions and Reprints

Summary

We performed family studies with type II CD36 deficiency. In the Mi.Y family, the proband (YII.1) and his brother (YII.2) displayed a type II deficient phenotype. In the mother(YI.2), binding of the anti CD36 monoclonal antibody, 0KM5, to both platelets and monocytes was reduced as compared to CD36 positive control cells. In the father (YI.1), while 0KM5 binding to his platelets was reduced, that of his monocytes was almost the same as normal control monocytes. Analysis of genomic DNA showed that YI.2, YII.1 and YII.2 were heterozygous for a proline90→serine mutation, and showed that both alleles of YI.1 did not have the mutation. Analysis of CD36 cDNA showed that the Pro90 form of CD36 cDNA could be detected in monocytes, but not in platelets from YII.1 and YII.2. These data indicated that YII.1 and YII.2 could be compound heterozygotes; an allele having a platelet-specific mRNA expression defect(s), which was responsible for the different CD36 expression between their platelets and monocytes, and the Ser90 allele. YI.1 was suggested to be a carrier of the platelet-specific silent allele. The platelet-specific silent allele was linked to a specific genotype of a polymorphic microsatellite sequence in the CD36 gene, supporting our hypothesis that mRNA expression defect(s) occurred at or near the CD36 gene. In a second type IICD36 deficient family, we also obtained results consistent with this hypothesis.

 

  • References

  • 1 Greenwalt DE, Lipsky RH, Ockenhouse CF, Ikeda H, Tandon NN, Jamieson GA. Membrane glycoprotein CD36: A review of its roles in adherence, signal transduction, and transfusion medicine. Blood 1992; 80: 1105-1115
    CrossrefPubMedSearch in Google Scholar
  • 2 Tandon NN, Kralisz U, Jamieson GA. Identification of GPIV (CD36) as a primary receptor for platelet-collagen adhesion. J Biol Chem 1989; 264: 7576-7583
    PubMedSearch in Google Scholar
  • 3 Asch AS, Barnwell J, Silverstein RL, Nachman RL. Isolation of the thrombospondin membrane receptor. J Clin Invest 1987; 79: 1054-1061
    CrossrefPubMedSearch in Google Scholar
  • 4 Ockenhouse CF, Tandon NN, Magowan C, Jamieson GA, Chulay J. Identification of a platelet membrane glycoprotein as a falciparum malaria sequestration receptor. Science 1989; 243: 1469-1471
    CrossrefPubMedSearch in Google Scholar
  • 5 Endemann G, Stanton LW, Madden KS, Bryant CM, Tylert White R, Protter AA. CD36 is a receptor for oxidized low density lipoprotein. J Biol Chem 1993; 268: 11811-11816
    CrossrefPubMedSearch in Google Scholar
  • 6 Ahumrad NA, El-Maghrabi MR, Amri EZ, Lopez E, Grimaidi PA. Cloning of a rat adipocyte membrane protein implicated in binding or transport of long-chain fatty acids that is induced during preadipocyte differentiation. J Biol Chem 1993; 268: 17665-17668
    CrossrefPubMedSearch in Google Scholar
  • 7 Oquendo P, Hundt E, Lawler J, Seed B. CD36 directly mediates cyto-adherence of Plasmodium falciparum parasitized erythrocytes. Cell 1989; 58: 95-101
    CrossrefPubMedSearch in Google Scholar
  • 8 Noguchi K, Naito M, Tezuka K, Ishi S, Seimiya H, Sugimoto Y, Ammun E, Tsuruo T. cDNA expression cloning of the 85-kDa protein overexpressed in adriamycin-resistant cells. Biochem Biophys Res Comm 1993; 192: 88-95
    CrossrefPubMedSearch in Google Scholar
  • 9 Wyler B, Bortkicwiez DH, Bordet JC, McGregor JL. Cloning of the cDNA encoding human platelet CD36: comparison to PCR amplified fragments of monocyte, endothelial and HEL cells. Thromb Haemost 1993; 70: 500-505
    Thieme ConnectPubMedSearch in Google Scholar
  • 10 Taylor KT, Tang Y, Sobieski DA, Lipsky RH. Characterization of two alternatively spliced 5’-untranslated exons of the human CD36 gene in different cell types. Gene 1993; 133: 205-212
    CrossrefPubMedSearch in Google Scholar
  • 11 Fernandez-Ruiz E, Armesilla AL, Sanchez-Madrid F, Vega EA. Gene encoding the collagen type I and thrombospondin receptor CD36 is located on chromosome 7ql 1.2. Genomics 1993; 17: 759-761
    CrossrefPubMedSearch in Google Scholar
  • 12 Tang Y, Taylor KT, Sobieski DA, Medved ES, Lipsky RH. Identification of a human CD36 isoform produced by exon skipping: Conservation of exon organization and pre-mRNA splicing patterns with a CD36 gene family member, CLA-1. J Biol Chem 1994; 269: 6011-6015
    PubMedSearch in Google Scholar
  • 13 Armesilla AL, Vega MA. Structural organization of the gene for human CD36 glycoprotein. J Biol Chem 1994; 269: 18985-18991
    CrossrefPubMedSearch in Google Scholar
  • 14 Ikeda H, Mitani T, Ohnuma M, Haga H, Ohtzuka S, Kato T, Nakase T, Sekiguchi S. A new platelet-specific antigen, Naka, involved in the refractoriness of HLA-matched platelet transfusion. Vox Sang 1989; 57: 213-217
    CrossrefPubMedSearch in Google Scholar
  • 15 Tomiyama Y, Take H, Ikeda H, Mitani T, Furubayashi T, Mizutani H, Yamamoto N, Tandon NN, Sekiguchi S, Jamieson GA, Kurata Y, Yonezawa T, Tarui S. Identification of the platelet-specific alloantigen, Naka, on platelet membrane glycoprotein IV. Blood 1990; 75: 684-687
    CrossrefPubMedSearch in Google Scholar
  • 16 Yamamoto N, Ikeda H, Tandon NN, Herman J, Tomiyama Y, Mitani T, Sekiguchi S, Lipsky R, Kralisz U, Jamieson GA. A platelet membrane glycoprotein (GP) deficiency in healthy blood donors: Naka- platelet lack detectable GPIV (CD36). Blood 1990; 76: 1698-1703
    CrossrefPubMedSearch in Google Scholar
  • 17 Take H, Kashiwagi H, Tomiyama Y, Honda S, Honda Y, Mizutani H, Furubayashi T, Karasuno T, Nishiura T, Kanayama Y, Kurata Y, Matsuzawa Y. Expression of GPIV and Nakaantigenon monocytes in Naka-negative subjectswhose platelets lack GPIV. Brit J Haematol 1993; 84: 387-391
    CrossrefPubMedSearch in Google Scholar
  • 18 Yamamoto N, Akamatsu N, Sakuraba H, Yamazaki H, Tanoue K. Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes. Blood 1994; 83: 392-397
    CrossrefPubMedSearch in Google Scholar
  • 19 Kehrel B, Kronenberg A, Rauterberg J, Niesing-Bresch D, Niehues U, Kardoeus J, Schwippert B, Tschope D, van de Loo J, Clemetson KJ. Platelets deficient in glycoprotein Illb aggregate normally to collagen I and III but not to collagen type V. Blood 1993; 82: 3364-3370
    PubMedSearch in Google Scholar
  • 20 Saelman EU M, Kehrel B, Kese KM, de Groot PG, Sixma JJ, Nieuwenhuis HK. Platelet adhesion to collagen and endothelial cell matrix under flow conditions is not dependenton platelet glycoprotein IV. Blood 1994; 83: 3240-3244
    PubMedSearch in Google Scholar
  • 21 Kashiwagi H, Honda S, Tomiyama Y, Mizutani H, Take H, Honda Y, Kosugi S, Kanayama Y, Kurata Y, Matsuzawa Y. A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency. Thromb Haemost 1993; 69: 481-484
    Thieme ConnectPubMedSearch in Google Scholar
  • 22 Kashiwagi H, Tomiyama Y, Honda S, Kosugi S, Shiraga M, Nagao N, Sekiguchi S, Kanayama Y, Kurata Y, Matsuzawa Y. Molecular basis of CD36 deficiency: Evidence that a128CșT substitution(prolin90șserine) in CD36 cDNA accounts for CD36 deficiency. J Clin Invest 1995; 95: 1040-1046
    CrossrefPubMedSearch in Google Scholar
  • 23 Lipsky RH, Ikeda H, Medved ES. A dinucleotide repeat in the third intron of CD36. Hum Mol Genet 1994; 3: 217
    PubMedSearch in Google Scholar
  • 24 Kashiwagi H, Honda S, Take H, Mizutani H, Imai Y, Furubayashi T, Tomiyama Y, Kurata Y, Yonezawa T. Presenee of the whole coding region of GPIV mRNA in Nakn-negative platelets. Int J Hematol 1993; 57: 153-161
    PubMedSearch in Google Scholar
  • 25 Kashiwagi H, Honda S, Take H, Mizutani H, Imai Y, Tomiyama Y, Kurata Y, Yonezawa T. Detection of Nakaantigen and GPIV (CD36) mRNA in monocytes of Naka-negative subjects. Thromb Haemost 1992; 67: 384-385
    Thieme ConnectPubMedSearch in Google Scholar
  • 26 Kashiwagi H, Tomiyama Y, Kosugi S, Shiraga M, Lipsky RH, Kanayama Y, Kurata Y, Matsuzawa Y. Identification of molecular defects in a subject with type ICD36 deficiency. Blood 1994; 83: 3545-3552
    PubMedSearch in Google Scholar
  • 27 Saltzman GC, Crowell JM, Martin JC, Trujillo TT, Romero A, Mullaney PF, LaBauve PM. Cell classification by laser light scattering:Identification and separation of unstained leukocytes. Acta Cytologica 1975; 19: 374-377
    PubMedSearch in Google Scholar
  • 28 Chen YP, Djaffar I, Pidard D, Steiner B, Cieutat AM, Caen JP, Rasa JP. Ser-752șPro mutation in the cytoplasmic domain of integrin β3 subunit and defective activation of platelet integrin αIIbβ3(glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA 1992; 89: 10169-10173
    CrossrefPubMedSearch in Google Scholar
  • 29 Tomiyama Y, Kashiwagi H, Kosugi S, Shiraga M, Kanayama Y, Kurata Y, Matsuzawa Y. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann’s thrombasthenia. Thromb Haemost 1995; 73: 756-762
    Thieme ConnectPubMedSearch in Google Scholar
  • 30 Nichols WC, Lyons SE, Harrison JS, Cody RL, Ginsburg D. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis. Proc Natl Acad Sci USA 1991; 88: 3857-3861
    CrossrefPubMedSearch in Google Scholar
  • 31 Siguret V, Lavergne JM, Cherel G, Boyer-Neumann C, Ribba AS, Bahnak BR, Meyer D, Pietu G. A novel case of compound heterozygousity with ”Normandy’/type I von Willebrand disease (vWD) Direct demonstration of the segregationof one allele with a defective expression at the mRNA level causing type I vWD. Hum Genet 1994; 93: 95-102
    PubMedSearch in Google Scholar
  • 32 Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Romeo PH, Goossens RM, Nordmann Y. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 1989; 19: 415-418
    CrossrefPubMedSearch in Google Scholar
  • 33 Conboy JG, Chasis JA, Winardi R, Tchernia G, Kan YW, Mohandas N. An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. J Clin Invest 1993; 91: 77-82
    CrossrefPubMedSearch in Google Scholar