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. 1975 Jun;72(6):2125–2129. doi: 10.1073/pnas.72.6.2125

Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

T B Shows, J A Brown
PMCID: PMC432709  PMID: 1056018

Abstract

Human genes coding for hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase), glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49; D-glucose-6-phosphate:NADP+ 1-oxidoreductase), and phosphoglycerate kinase (PGK, EC 2.7.2.3; ATP:3-phospho-D-glycerate 1-phosphotransferase) have been assigned to specific regions on the long arm of the X chromosome by somatic cell gentic techniques. Gene assignment and linear order were determined by employing human somatic cells possessing an X/9 translocation or an X/22 translocation in man-mouse cell hybridization studies. The X/9 translocation involved the majority of the X long arm translocated to chromosome 9 and the X/22 translocation involved the distal half of the X long arm translocated to 22. In each case these rearrangements appeared to be reciprocal. Concordant segregation of X-linked enzymes and segments of the X chromosome generated by the translocations indicated assignment of the PGK gene to a proximal long arm region (q12-q22) and the HPRT and G6PD genes to the distal half (q22-qter) of the X long arm. Further evidence suggests a gene order on the X long arm of centromere-PGK-HPRT-G6PD.

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Selected References

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

  1. Burgerhout W., van Someren H., Bootsma D. Cytological mapping of the genes assigned to the human A 1 chromosome by use of radiation-induced chromosome breakage in a human-Chinese hamster hybrid cell line. Humangenetik. 1973;20(2):159–162. doi: 10.1007/BF00284852. [DOI] [PubMed] [Google Scholar]
  2. Chen S. H., Malcolm L. A., Yoshida A., Giblett E. R. Phosphoglycerate kinase: an X-linked polymorphism in man. Am J Hum Genet. 1971 Jan;23(1):87–91. [PMC free article] [PubMed] [Google Scholar]
  3. Cohen M. M., Lin C. C., Sybert V., Orecchio E. J. Two human X-autosome translocations identified by autoradiography and fluorescence. Am J Hum Genet. 1972 Sep;24(5):583–597. [PMC free article] [PubMed] [Google Scholar]
  4. Creagan R. P., Tan Y. H., Chen S., Tischfield J. A., Ruddle F. H. Proceedings: Mouse-human somatic cell hybrids utilizing human parental cells containing a (14;22) translocation: assignment of the gene for nucleoside phosphorylase to chromosome 14. Cytogenet Cell Genet. 1974;13(1):83–85. doi: 10.1159/000130240. [DOI] [PubMed] [Google Scholar]
  5. DAVIDSON R. G., NITOWSKY H. M., CHILDS B. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proc Natl Acad Sci U S A. 1963 Sep;50:481–485. doi: 10.1073/pnas.50.3.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dev V. G., Miller D. A., Allderdice P. W., Miller O. J. Method for locating the centromeres of mouse meiotic chromosomes and its application to T163H and T70H translocations. Exp Cell Res. 1972 Jul;73(1):259–262. doi: 10.1016/0014-4827(72)90132-2. [DOI] [PubMed] [Google Scholar]
  7. Gerald P. S., Brown J. A. Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome. Cytogenet Cell Genet. 1974;13(1):29–34. doi: 10.1159/000130228. [DOI] [PubMed] [Google Scholar]
  8. Grzeschik K. H., Allderdice P. W., Grzeschik A., Opitz J. M., Miller O. J., Siniscalco M. Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A. 1972 Jan;69(1):69–73. doi: 10.1073/pnas.69.1.69. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. KIT S., DUBBS D. R., PIEKARSKI L. J., HSU T. C. DELETION OF THYMIDINE KINASE ACTIVITY FROM L CELLS RESISTANT TO BROMODEOXYURIDINE. Exp Cell Res. 1963 Aug;31:297–312. doi: 10.1016/0014-4827(63)90007-7. [DOI] [PubMed] [Google Scholar]
  10. Klebe R. J., Chen T., Ruddle F. H. Controlled production of proliferating somatic cell hybrids. J Cell Biol. 1970 Apr;45(1):74–82. doi: 10.1083/jcb.45.1.74. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. LITTLEFIELD J. W. SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS. Science. 1964 Aug 14;145(3633):709–710. doi: 10.1126/science.145.3633.709. [DOI] [PubMed] [Google Scholar]
  12. Lalley P. A., Rattazzi M. C., Shows T. B. Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids. Proc Natl Acad Sci U S A. 1974 Apr;71(4):1569–1573. doi: 10.1073/pnas.71.4.1569. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Littlefield J. W. The use of drug-resistant markers to study the hybridization of mouse fibroblasts. Exp Cell Res. 1966 Jan;41(1):190–196. doi: 10.1016/0014-4827(66)90558-1. [DOI] [PubMed] [Google Scholar]
  14. Lyon M. F. X-chromosome inactivation and developmental patterns in mammals. Biol Rev Camb Philos Soc. 1972 Jan;47(1):1–35. doi: 10.1111/j.1469-185x.1972.tb00969.x. [DOI] [PubMed] [Google Scholar]
  15. McDougall J. K., Kucherlapati R., Ruddle F. H. Localization and induction of the human thymidine kinase gene by adenovirus 12. Nat New Biol. 1973 Oct 10;245(145):172–175. doi: 10.1038/newbio245172a0. [DOI] [PubMed] [Google Scholar]
  16. PUCK T. T., MARCUS P. I., CIECIURA S. J. Clonal growth of mammalian cells in vitro; growth characteristics of colonies from single HeLa cells with and without a feeder layer. J Exp Med. 1956 Feb 1;103(2):273–283. doi: 10.1084/jem.103.2.273. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Patil S. R., Merrick S., Lubs H. A. Identification of each human chromosome with a modified Giemsa stain. Science. 1971 Aug 27;173(3999):821–822. doi: 10.1126/science.173.3999.821. [DOI] [PubMed] [Google Scholar]
  18. Pearson P. L., van der Linden A. G., Hagemeijer A. Proceedings: Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. Cytogenet Cell Genet. 1974;13(1):136–142. doi: 10.1159/000130257. [DOI] [PubMed] [Google Scholar]
  19. Ricciuti F. C., Ruddle F. H. Assignment of three gene loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics. Genetics. 1973 Aug;74(4):661–678. doi: 10.1093/genetics/74.4.661. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Ricciuti F., Ruddle F. H. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics. Nat New Biol. 1973 Feb 7;241(110):180–182. doi: 10.1038/newbio241180a0. [DOI] [PubMed] [Google Scholar]
  21. Ruddle F. H. Linkage analysis in man by somatic cell genetics. Nature. 1973 Mar 16;242(5394):165–169. doi: 10.1038/242165a0. [DOI] [PubMed] [Google Scholar]
  22. Seegmiller J. E., Rosenbloom F. M., Kelley W. N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(3770):1682–1684. doi: 10.1126/science.155.3770.1682. [DOI] [PubMed] [Google Scholar]
  23. Show T. B., Brown J. A. Proceedings: An (Xq+; 9p-) translocation suggests the assignment of G6PD, HPRT, and PGK to the long arm of the X chromosome in somatic cell hybrids. Cytogenet Cell Genet. 1974;13(1):146–149. doi: 10.1159/000130259. [DOI] [PubMed] [Google Scholar]
  24. Shows T. B. Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase. Biochem Genet. 1972 Dec;7(3):193–204. doi: 10.1007/BF00484817. [DOI] [PubMed] [Google Scholar]
  25. Shows T. B. Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A 4 . Proc Natl Acad Sci U S A. 1972 Feb;69(2):348–352. doi: 10.1073/pnas.69.2.348. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Valentine W. N., Hsieh H. S., Paglia D. E., Anderson H. M., Baughan M. A., Jaffé E. R., Garson O. M. Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. N Engl J Med. 1969 Mar 6;280(10):528–534. doi: 10.1056/NEJM196903062801003. [DOI] [PubMed] [Google Scholar]

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