Skip to main content
NCBI home page
Biochemical Journal logoLink to Biochemical Journal
. 1988 Mar 1;250(2):407–414. doi: 10.1042/bj2500407

Genetic variants of human red-cell membrane sialoglycoprotein beta. Study of the alterations occurring in the sialoglycoprotein-beta gene.

M J Tanner 1, S High 1, P G Martin 1, D J Anstee 1, P A Judson 1, T J Jones 1
PMCID: PMC1148871  PMID: 2833242

Abstract

We have studied the DNA of individuals who express an altered sialoglycoprotein beta on their red cells by using Southern blotting with sialoglycoprotein-beta cDNA probes. Individuals of the Leach phenotype do not express any beta (sialoglycoprotein beta) or gamma (sialoglycoprotein gamma) on their red cells, and we show that about 7 kb of DNA, including the 3' end of the beta gene, is deleted in this DNA. Any protein product of this gene is likely to lack the membrane-associating domain of beta. We have also examined the DNA of two types of other individuals (Yus-type and Gerbich-type) who have red cells that lack beta and gamma, but contain abnormal sialoglycoproteins related to beta. These two types of DNA contain different internal deletions of about 6 kb in the beta gene. We suggest that these deletions result from the presence of two different sets of internal homology in the beta gene, and on this basis we propose structures for the abnormal Yus-type and Gerbich-type sialoglycoproteins which are consistent with the other evidence that is available. We provide evidence that beta and gamma are products of the same gene and suggest a possible mechanism for the origin of gamma based on leaky initiation of translation of beta mRNA.

Full text

PDF
407

Images in this article

410Fig. 2.
on p.410

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson S. E., McKenzie J. L., McLoughlin K., Beard M. E., Hart D. N. The inheritance of abnormal sialoglycoproteins found in a Gerbich negative individual. Pathology. 1986 Oct;18(4):407–412. doi: 10.3109/00313028609087560. [DOI] [PubMed] [Google Scholar]
  2. Anstee D. J., Parsons S. F., Ridgwell K., Tanner M. J., Merry A. H., Thomson E. E., Judson P. A., Johnson P., Bates S., Fraser I. D. Two individuals with elliptocytic red cells apparently lack three minor erythrocyte membrane sialoglycoproteins. Biochem J. 1984 Mar 1;218(2):615–619. doi: 10.1042/bj2180615. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Anstee D. J., Ridgwell K., Tanner M. J., Daniels G. L., Parsons S. F. Individuals lacking the Gerbich blood-group antigen have alterations in the human erythrocyte membrane sialoglycoproteins beta and gamma. Biochem J. 1984 Jul 1;221(1):97–104. doi: 10.1042/bj2210097. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Anstee D. J., Tanner M. J. Structure and function of the red cell membrane sialoglycoproteins. Br J Haematol. 1986 Oct;64(2):211–215. doi: 10.1111/j.1365-2141.1986.tb04113.x. [DOI] [PubMed] [Google Scholar]
  5. Arveiler B., Le Van Kim C., Colin Y., Mandel J. L., Cartron J. P. RFLPs for the human erythrocyte membrane glycophorin C gene. Nucleic Acids Res. 1987 Feb 25;15(4):1880–1880. doi: 10.1093/nar/15.4.1880. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Bidwell J. L., Jarrold E. A. HLA-DR allogenotyping using exon-specific cDNA probes and application of rapid minigel methods. Mol Immunol. 1986 Oct;23(10):1111–1116. doi: 10.1016/0161-5890(86)90009-x. [DOI] [PubMed] [Google Scholar]
  7. Bos J. L., Verlaan-de Vries M., Jansen A. M., Veeneman G. H., van Boom J. H., van der Eb A. J. Three different mutations in codon 61 of the human N-ras gene detected by synthetic oligonucleotide hybridization. Nucleic Acids Res. 1984 Dec 11;12(23):9155–9163. doi: 10.1093/nar/12.23.9155. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Colin Y., Rahuel C., London J., Roméo P. H., d'Auriol L., Galibert F., Cartron J. P. Isolation of cDNA clones and complete amino acid sequence of human erythrocyte glycophorin C. J Biol Chem. 1986 Jan 5;261(1):229–233. [PubMed] [Google Scholar]
  9. Dahr W., Beyreuther K., Kordowicz M., Krüger J. N-terminal amino acid sequence of sialoglycoprotein D (glycophorin C) from human erythrocyte membranes. Eur J Biochem. 1982 Jun 15;125(1):57–62. doi: 10.1111/j.1432-1033.1982.tb06650.x. [DOI] [PubMed] [Google Scholar]
  10. Dahr W., Moulds J., Baumeister G., Moulds M., Kiedrowski S., Hummel M. Altered membrane sialoglycoproteins in human erythrocytes lacking the Gerbich blood group antigens. Biol Chem Hoppe Seyler. 1985 Feb;366(2):201–211. doi: 10.1515/bchm3.1985.366.1.201. [DOI] [PubMed] [Google Scholar]
  11. Daniels G. L., Shaw M. A., Judson P. A., Reid M. E., Anstee D. J., Colpitts P., Cornwall S., Moore B. P., Lee S. A family demonstrating inheritance of the Leach phenotype: a Gerbich-negative phenotype associated with elliptocytosis. Vox Sang. 1986;50(2):117–121. doi: 10.1111/j.1423-0410.1986.tb04860.x. [DOI] [PubMed] [Google Scholar]
  12. Doyle A., Jones T. J., Bidwell J. L., Bradley B. A. In vitro development of human monoclonal antibody-secreting plasmacytomas. Hum Immunol. 1985 Jul;13(3):199–209. doi: 10.1016/0198-8859(85)90012-6. [DOI] [PubMed] [Google Scholar]
  13. Gupta K. C., Kingsbury D. W. Translational modulation in vitro of a eukaryotic viral mRNA encoding overlapping genes: ribosome scanning and potential roles of conformational changes in the P/C mRNA of Sendai virus. Biochem Biophys Res Commun. 1985 Aug 30;131(1):91–97. doi: 10.1016/0006-291x(85)91774-7. [DOI] [PubMed] [Google Scholar]
  14. High S., Tanner M. J. Human erythrocyte membrane sialoglycoprotein beta. The cDNA sequence suggests the absence of a cleaved N-terminal signal sequence. Biochem J. 1987 Apr 1;243(1):277–280. doi: 10.1042/bj2430277. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Kozak M. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res. 1984 Jan 25;12(2):857–872. doi: 10.1093/nar/12.2.857. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Lipp J., Dobberstein B. The membrane-spanning segment of invariant chain (I gamma) contains a potentially cleavable signal sequence. Cell. 1986 Sep 26;46(7):1103–1112. doi: 10.1016/0092-8674(86)90710-5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Reid M. E., Anstee D. J., Tanner M. J., Ridgwell K., Nurse G. T. Structural relationships between human erythrocyte sialoglycoproteins beta and gamma and abnormal sialoglycoproteins found in certain rare human erythrocyte variants lacking the Gerbich blood-group antigen(s). Biochem J. 1987 May 15;244(1):123–128. doi: 10.1042/bj2440123. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Reid M. E., Martynewycz M. A., Wolford F. E., Crawford M. N., Miller L. H. Leach type Ge--red cells and elliptocytosis. Transfusion. 1987 Mar-Apr;27(2):213–214. doi: 10.1046/j.1537-2995.1987.27287150206.x. [DOI] [PubMed] [Google Scholar]
  19. Siebert P. D., Fukuda M. Isolation and characterization of human glycophorin A cDNA clones by a synthetic oligonucleotide approach: nucleotide sequence and mRNA structure. Proc Natl Acad Sci U S A. 1986 Mar;83(6):1665–1669. doi: 10.1073/pnas.83.6.1665. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Spiess M., Lodish H. F. An internal signal sequence: the asialoglycoprotein receptor membrane anchor. Cell. 1986 Jan 17;44(1):177–185. doi: 10.1016/0092-8674(86)90496-4. [DOI] [PubMed] [Google Scholar]
  21. Staden R. An interactive graphics program for comparing and aligning nucleic acid and amino acid sequences. Nucleic Acids Res. 1982 May 11;10(9):2951–2961. doi: 10.1093/nar/10.9.2951. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Biochemical Journal are provided here courtesy of The Biochemical Society

RESOURCES