Skip to main content
PMC home page
Biochemical Journal logoLink to Biochemical Journal
. 1989 Aug 15;262(1):47–54. doi: 10.1042/bj2620047

Rearrangements of the red-cell membrane glycophorin C (sialoglycoprotein beta) gene. A further study of alterations in the glycophorin C gene.

S High 1, M J Tanner 1, E B Macdonald 1, D J Anstee 1
PMCID: PMC1133227  PMID: 2818576

Abstract

We have cloned portions of the glycophorin C (sialoglycoprotein beta) gene from individuals with red cells of normal, Gerbich and Yus phenotypes. The clones contain up to three exons of the glycophorin C gene (designated exons 2, 3 and 4). Analysis by restriction mapping and DNA sequencing confirmed that the deletions causing the Gerbich and Yus phenotypes are located entirely within the glycophorin C gene. Sequencing of the normal gene showed that not only do exon 2 and exon 3 have related DNA sequences, but also that both the 5' and 3' flanking intronic DNA sequences are almost identical. The two variant genes each lack a different exon: the Yus type gene lacks exon 2, whereas the Gerbich-type gene lacks exon 3. We suggest that the observed deletions are due to recombination between the regions of homologous intronic repeats. We also provide evidence that an unequal cross-over mechanism may be responsible for a number of observed glycophorin C gene rearrangements, including an insertion mutation in Lewis II (Lsa)-type red cells that has not previously been reported.

Full text

PDF
47

Images in this article

51Fig. 4.
on p.51
52Fig. 6.
on p.52

Selected References

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

  1. Alloisio N., Morlé L., Bachir D., Guetarni D., Colonna P., Delaunay J. Red cell membrane sialoglycoprotein beta in homozygous and heterozygous 4.1(-) hereditary elliptocytosis. Biochim Biophys Acta. 1985 Jun 11;816(1):57–62. doi: 10.1016/0005-2736(85)90392-x. [DOI] [PubMed] [Google Scholar]
  2. Anstee D. J., Mawby W. J., Tanner M. J. Abnormal blood-group-Ss-active sialoglycoproteins in the membrane of Miltenberger class III, IV and V human erythrocytes. Biochem J. 1979 Nov 1;183(2):193–203. doi: 10.1042/bj1830193. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. 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]
  4. 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]
  5. 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]
  6. Biggin M. D., Gibson T. J., Hong G. F. Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination. Proc Natl Acad Sci U S A. 1983 Jul;80(13):3963–3965. doi: 10.1073/pnas.80.13.3963. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Booth P. B., McLoughlin K. The Gerbich blood group system, especially in Melanesians. Vox Sang. 1972 Jan;22(1):73–84. doi: 10.1111/j.1423-0410.1972.tb03968.x. [DOI] [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. A revision of the N-terminal structure of sialoglycoprotein D (glycophorin C) from human erythrocyte membranes. Biol Chem Hoppe Seyler. 1985 Nov;366(11):1067–1070. doi: 10.1515/bchm3.1985.366.2.1067. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. 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]
  12. 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]
  13. Le Van Kim C., Colin Y., Blanchard D., Dahr W., London J., Cartron J. P. Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types. Immunochemical study and genomic analysis with cDNA probes. Eur J Biochem. 1987 Jun 15;165(3):571–579. doi: 10.1111/j.1432-1033.1987.tb11478.x. [DOI] [PubMed] [Google Scholar]
  14. 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]
  15. Reid M. E., Chasis J. A., Mohandas N. Identification of a functional role for human erythrocyte sialoglycoproteins beta and gamma. Blood. 1987 Apr;69(4):1068–1072. [PubMed] [Google Scholar]
  16. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Sondag D., Alloisio N., Blanchard D., Ducluzeau M. T., Colonna P., Bachir D., Bloy C., Cartron J. P., Delaunay J. Gerbich reactivity in 4.1 (-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency. Br J Haematol. 1987 Jan;65(1):43–50. doi: 10.1111/j.1365-2141.1987.tb06133.x. [DOI] [PubMed] [Google Scholar]
  18. Tanner M. J., High S., Martin P. G., Anstee D. J., Judson P. A., Jones T. J. Genetic variants of human red-cell membrane sialoglycoprotein beta. Study of the alterations occurring in the sialoglycoprotein-beta gene. Biochem J. 1988 Mar 1;250(2):407–414. doi: 10.1042/bj2500407. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Telen M. J., Bolk T. A. Human red cell antigens. IV. The abnormal sialoglycoprotein of Gerbich-negative red cells. Transfusion. 1987 Jul-Aug;27(4):309–314. doi: 10.1046/j.1537-2995.1987.27487264736.x. [DOI] [PubMed] [Google Scholar]

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

RESOURCES