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. 1992 Jan;50(1):71–75.

The gene for human erythrocyte protein 4.2 maps to chromosome 15q15.

V Najfeld 1, S G Ballard 1, J Menninger 1, D C Ward 1, E E Bouhassira 1, R S Schwartz 1, R L Nagel 1, A C Rybicki 1
PMCID: PMC1682530  PMID: 1729896

Abstract

Protein 4.2 (P4.2), one of the major components of the red-blood-cell membrane, is located on the interior surface, where it binds with high affinity to the cytoplasmic domain of band 3. Individuals whose red blood cells are deficient in P4.2 have osmotically fragile, abnormally shaped cells and moderate hemolytic anemia. cDNA clones from both the 5' and the 3' coding regions of the P4.2 gene were used to map its chromosomal location by fluorescence in situ hybridization. The probes, individually or in combination, gave specific hybridization signals on chromosome 15. The hybridization locus was identified by combining fluorescence images of the probe signals with fluorescence banding patterns generated by Alu-PCR (R-like) probe and by DAPI staining (G-like). Our results demonstrate that the locus of the P4.2 gene is located within 15q15.

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Selected References

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

  1. Baldini A., Ward D. C. In situ hybridization banding of human chromosomes with Alu-PCR products: a simultaneous karyotype for gene mapping studies. Genomics. 1991 Apr;9(4):770–774. doi: 10.1016/0888-7543(91)90374-n. [DOI] [PubMed] [Google Scholar]
  2. Brigati D. J., Myerson D., Leary J. J., Spalholz B., Travis S. Z., Fong C. K., Hsiung G. D., Ward D. C. Detection of viral genomes in cultured cells and paraffin-embedded tissue sections using biotin-labeled hybridization probes. Virology. 1983 Apr 15;126(1):32–50. doi: 10.1016/0042-6822(83)90460-9. [DOI] [PubMed] [Google Scholar]
  3. Conboy J., Mohandas N., Tchernia G., Kan Y. W. Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. N Engl J Med. 1986 Sep 11;315(11):680–685. doi: 10.1056/NEJM198609113151105. [DOI] [PubMed] [Google Scholar]
  4. Korenberg J. R., Rykowski M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell. 1988 May 6;53(3):391–400. doi: 10.1016/0092-8674(88)90159-6. [DOI] [PubMed] [Google Scholar]
  5. Korsgren C., Lawler J., Lambert S., Speicher D., Cohen C. M. Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2. Proc Natl Acad Sci U S A. 1990 Jan;87(2):613–617. doi: 10.1073/pnas.87.2.613. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Lichter P., Tang C. J., Call K., Hermanson G., Evans G. A., Housman D., Ward D. C. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 1990 Jan 5;247(4938):64–69. doi: 10.1126/science.2294592. [DOI] [PubMed] [Google Scholar]
  7. Lux S. E., John K. M., Kopito R. R., Lodish H. F. Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1). Proc Natl Acad Sci U S A. 1989 Dec;86(23):9089–9093. doi: 10.1073/pnas.86.23.9089. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Lux S. E., Tse W. T., Menninger J. C., John K. M., Harris P., Shalev O., Chilcote R. R., Marchesi S. L., Watkins P. C., Bennett V. Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature. 1990 Jun 21;345(6277):736–739. doi: 10.1038/345736a0. [DOI] [PubMed] [Google Scholar]
  9. Mattei M. G., Colin Y., Le Van Kim C., Mattei J. F., Cartron J. P. Localization of the gene for human erythrocyte glycophorin C to chromosome 2, q14-q21. Hum Genet. 1986 Dec;74(4):420–422. doi: 10.1007/BF00280497. [DOI] [PubMed] [Google Scholar]
  10. Moore G., Hedge P. J., Rider S. H., Xu W., Hing S., Palmer R., Sheer D., Solomon E. Multiple tandem 18-kb sequences clustered in the region of the acute promyelocytic leukemia breakpoint on chromosome 17. Genomics. 1989 Feb;4(2):152–161. doi: 10.1016/0888-7543(89)90294-2. [DOI] [PubMed] [Google Scholar]
  11. Nelson D. L., Ledbetter S. A., Corbo L., Victoria M. F., Ramírez-Solis R., Webster T. D., Ledbetter D. H., Caskey C. T. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A. 1989 Sep;86(17):6686–6690. doi: 10.1073/pnas.86.17.6686. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Rowley J. D., Golomb H. M., Vardiman J., Fukuhara S., Dougherty C., Potter D. Further evidence for a non-random chromosomal abnormality in acute promyelocytic leukemia. Int J Cancer. 1977 Dec 15;20(6):869–872. doi: 10.1002/ijc.2910200608. [DOI] [PubMed] [Google Scholar]
  13. Rybicki A. C., Heath R., Wolf J. L., Lubin B., Schwartz R. S. Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane. J Clin Invest. 1988 Mar;81(3):893–901. doi: 10.1172/JCI113400. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  15. Showe L. C., Ballantine M., Huebner K. Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17. Genomics. 1987 Sep;1(1):71–76. doi: 10.1016/0888-7543(87)90107-8. [DOI] [PubMed] [Google Scholar]
  16. Sung L. A., Chien S., Chang L. S., Lambert K., Bliss S. A., Bouhassira E. E., Nagel R. L., Schwartz R. S., Rybicki A. C. Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane. Proc Natl Acad Sci U S A. 1990 Feb;87(3):955–959. doi: 10.1073/pnas.87.3.955. [DOI] [PMC free article] [PubMed] [Google Scholar]

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