Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Dec;45(6):873–882.

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

S Kenwrick 1, J Gitschier 1
PMCID: PMC1683476  PMID: 2589319

Abstract

Using pulsed-field gel electrophoresis (PFGE), we have generated a 3-megabase (Mb) physical map of Xq28, a region of the human genome known to contain many disease loci. We have determined the location of the genes for protan/deutan colorblindness (R/GCP), factor VIII (F8), glucose-6-phosphate dehydrogenase (G6PD), and a series of RFLPs and have derived the following order for this region: R/GCP-GdX-G6PD-F8-DXS115-DXS33-DXS134-D XS15. Using newly isolated probes, we have also established the direction of transcription of F8 within the map and have localized CpG islands flanking this gene.

Full text

PDF
878

Images in this article

Selected References

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

  1. Anand R., Honeycombe J., Whittaker P. A., Elder J. K., Southern E. M. Clones from an 840-kb fragment containing the 5' region of the DMD locus enriched by pulsed field gel electrophoresis. Genomics. 1988 Oct;3(3):177–186. doi: 10.1016/0888-7543(88)90077-8. [DOI] [PubMed] [Google Scholar]
  2. Arveiler B., Vincent A., Mandel J. L. Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region. Genomics. 1989 May;4(4):460–471. doi: 10.1016/0888-7543(89)90269-3. [DOI] [PubMed] [Google Scholar]
  3. Aubourg P. R., Sack G. H., Jr, Meyers D. A., Lease J. J., Moser H. W. Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol. 1987 Apr;21(4):349–352. doi: 10.1002/ana.410210406. [DOI] [PubMed] [Google Scholar]
  4. Connor J. M., Gatherer D., Gray F. C., Pirrit L. A., Affara N. A. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet. 1986 Apr;72(4):348–351. doi: 10.1007/BF00290963. [DOI] [PubMed] [Google Scholar]
  5. Davies K. E., Mandel J. L., Weissenbach J., Fellous M. Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet. 1987;46(1-4):277–315. doi: 10.1159/000132481. [DOI] [PubMed] [Google Scholar]
  6. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  7. Gitschier J., Wood W. I., Goralka T. M., Wion K. L., Chen E. Y., Eaton D. H., Vehar G. A., Capon D. J., Lawn R. M. Characterization of the human factor VIII gene. Nature. 1984 Nov 22;312(5992):326–330. doi: 10.1038/312326a0. [DOI] [PubMed] [Google Scholar]
  8. Harper K., Winter R. M., Pembrey M. E., Hartley D., Davies K. E., Tuddenham E. G. A clinically useful DNA probe closely linked to haemophilia A. Lancet. 1984 Jul 7;2(8393):6–8. doi: 10.1016/s0140-6736(84)91995-0. [DOI] [PubMed] [Google Scholar]
  9. Hofker M. H., Bergen A. A., Skraastad M. I., Carpenter N. J., Veenema H., Connor J. M., Bakker E., van Ommen G. J., Pearson P. L. Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet. 1987 Apr;40(4):312–328. [PMC free article] [PubMed] [Google Scholar]
  10. Hofker M. H., Wapenaar M. C., Goor N., Bakker E., van Ommen G. J., Pearson P. L. Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet. 1985;70(2):148–156. doi: 10.1007/BF00273073. [DOI] [PubMed] [Google Scholar]
  11. Kenwrick S., Ionasescu V., Ionasescu G., Searby C., King A., Dubowitz M., Davies K. E. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet. 1986 Jul;73(3):264–266. doi: 10.1007/BF00401241. [DOI] [PubMed] [Google Scholar]
  12. Kenwrick S., Patterson M., Speer A., Fischbeck K., Davies K. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell. 1987 Jan 30;48(2):351–357. doi: 10.1016/0092-8674(87)90438-7. [DOI] [PubMed] [Google Scholar]
  13. Knoers N., van der Heyden H., van Oost B. A., Ropers H. H., Monnens L., Willems J. Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Hum Genet. 1988 Sep;80(1):31–38. doi: 10.1007/BF00451451. [DOI] [PubMed] [Google Scholar]
  14. Martini G., Toniolo D., Vulliamy T., Luzzatto L., Dono R., Viglietto G., Paonessa G., D'Urso M., Persico M. G. Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J. 1986 Aug;5(8):1849–1855. doi: 10.1002/j.1460-2075.1986.tb04436.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Mulligan L. M., Grover H. J., Blanchette V. S., Giles A. R., Lillicrap D. P., Phillips A., Holden J. J., White B. N. Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-fra(X)-DXS15-DXS52-F8C-telomere. Am J Med Genet. 1987 Mar;26(3):751–760. doi: 10.1002/ajmg.1320260334. [DOI] [PubMed] [Google Scholar]
  16. Nathans J., Piantanida T. P., Eddy R. L., Shows T. B., Hogness D. S. Molecular genetics of inherited variation in human color vision. Science. 1986 Apr 11;232(4747):203–210. doi: 10.1126/science.3485310. [DOI] [PubMed] [Google Scholar]
  17. Nathans J., Thomas D., Hogness D. S. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science. 1986 Apr 11;232(4747):193–202. doi: 10.1126/science.2937147. [DOI] [PubMed] [Google Scholar]
  18. Oberlé I., Drayna D., Camerino G., White R., Mandel J. L. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A. 1985 May;82(9):2824–2828. doi: 10.1073/pnas.82.9.2824. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Patterson M., Bell M., Schwartz C., Davies K. Pulsed-field gel mapping studies in the vicinity of the fragile site at Xq27.3. Am J Med Genet. 1988 May-Jun;30(1-2):581–591. doi: 10.1002/ajmg.1320300159. [DOI] [PubMed] [Google Scholar]
  20. Patterson M., Gitschier J., Bloomfield J., Bell M., Dorkins H., Froster-Iskenius U., Sommer S., Sobell J., Schaid D., Thibodeau S. An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767). Am J Hum Genet. 1989 May;44(5):679–685. [PMC free article] [PubMed] [Google Scholar]
  21. Patterson M., Kenwrick S., Thibodeau S., Faulk K., Mattei M. G., Mattei J. F., Davies K. E. Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. Nucleic Acids Res. 1987 Mar 25;15(6):2639–2651. doi: 10.1093/nar/15.6.2639. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Patterson M., Schwartz C., Bell M., Sauer S., Hofker M., Trask B., van den Engh G., Davies K. E. Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics. 1987 Dec;1(4):297–306. doi: 10.1016/0888-7543(87)90028-0. [DOI] [PubMed] [Google Scholar]
  23. Persico M. G., Viglietto G., Martini G., Toniolo D., Paonessa G., Moscatelli C., Dono R., Vulliamy T., Luzzatto L., D'Urso M. Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. Nucleic Acids Res. 1986 Mar 25;14(6):2511–2522. doi: 10.1093/nar/14.6.2511. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Toniolo D., Martini G., Migeon B. R., Dono R. Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. EMBO J. 1988 Feb;7(2):401–406. doi: 10.1002/j.1460-2075.1988.tb02827.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Upadhyaya M., Sarfarazi M., Bamforth J. S., Thomas N. S., Oberle I., Young I., Harper P. S. Localisation of the gene for Hunter syndrome on the long arm of X chromosome. Hum Genet. 1986 Dec;74(4):391–398. doi: 10.1007/BF00280492. [DOI] [PubMed] [Google Scholar]
  26. Vollrath D., Nathans J., Davis R. W. Tandem array of human visual pigment genes at Xq28. Science. 1988 Jun 17;240(4859):1669–1672. doi: 10.1126/science.2837827. [DOI] [PubMed] [Google Scholar]
  27. Wood W. I., Capon D. J., Simonsen C. C., Eaton D. L., Gitschier J., Keyt B., Seeburg P. H., Smith D. H., Hollingshead P., Wion K. L. Expression of active human factor VIII from recombinant DNA clones. Nature. 1984 Nov 22;312(5992):330–337. doi: 10.1038/312330a0. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES