Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1979 Sep;31(5):586–600.

Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

T Mohandas, R S Sparkes, M C Sparkes, J D Shulkin, K E Toomey, S J Funderburk
PMCID: PMC1685904  PMID: 292306

Abstract

Somatic cell hybrids were derived from the fusion of (1) Chinese hamster cells deficient in hypoxanthine guanine phosphoribosyltransferase (HPRT) and human cells carrying an X/9 translocation and (2) Chinese hamster cells deficient in thymidine kinase (TK) and human cells carrying a 17/9 translocation. Several independent primary hybrid clones from these two series of cell hybrids were analyzed cytogenitically for human chromosome content and electrophoretically for the expression of human markers known to be on human chromosome 9. The results allow the assignment of the loci for the enzymes galactose-1-phosphate uridyltransferase (GALT), soluble aconitase (ACONs), and adenylate kinase-3 (AK3) to the short arm of chromosome 9 (p11 to pter) and the locus for the enzyme adenylate kinase-1 (AK1) to the distal end of the long arm of human chromosome 9 (hand q34). Earlier family studies have shown that the locus for AK1 is closely linked to the ABO blood group locus and to the locus of the nail-patella (Np) syndrome. Thus the regional localization of AK1 locus permits the localization of the AK1-Np-ABO linkage group.

Full text

PDF
586

Images in this article

588Fig. 1
on p.588
589Fig. 2
on p.589
590Fig. 3
on p.590
591Fig. 4
on p.591
592Fig. 5
on p.592
597Fig. 6
on p.597
598Fig. 7
on p.598

Selected References

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

  1. Beutler E. Electrophoresis of phosphoglycerate kinase. Biochem Genet. 1969 Apr;3(2):189–195. doi: 10.1007/BF00520353. [DOI] [PubMed] [Google Scholar]
  2. Caspersson T., Zech L., Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970 Jun;60(3):315–319. doi: 10.1016/0014-4827(70)90523-9. [DOI] [PubMed] [Google Scholar]
  3. Cook P. J., Robson E. B., Buckton K. E., Slaughter C. A., Gray J. E., Blank C. E., James F. E., Ridler M. A., Insley J., Hultén M. Segregation of ABO, AK1 and ACONs in families with abnormalities of chromosome 9. Ann Hum Genet. 1978 Jan;41(3):365–377. doi: 10.1111/j.1469-1809.1978.tb01904.x. [DOI] [PubMed] [Google Scholar]
  4. Ferguson-Smith M. A., Aitken D. A., Turleau C., de Grouchy J. Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet. 1976 Sep 10;34(1):35–43. doi: 10.1007/BF00284432. [DOI] [PubMed] [Google Scholar]
  5. Fildes R. A., Harris H. Genetically determined variation of adenylate kinase in man. Nature. 1966 Jan 15;209(5020):261–263. doi: 10.1038/209261a0. [DOI] [PubMed] [Google Scholar]
  6. Funderburk S. J., Spence M. A., Sparkes R. S. Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet. 1977 Mar;29(2):136–141. [PMC free article] [PubMed] [Google Scholar]
  7. Gee P. A., Mohandas R. T., Douglas G. R., Palser H. R., Richardson B. J., Hamerton J. L. Characteristics of an HPRT-deficient chinese hamster cell line. Cytogenet Cell Genet. 1974;13(5):437–447. doi: 10.1159/000130297. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Leisti J. T., Kaback M. M., Rimoin D. L. Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet. 1975 Jul;27(4):441–453. [PMC free article] [PubMed] [Google Scholar]
  10. 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]
  11. Mohandas T., Sparkes R. S., Sparkes M. C., Shulkin J. D. Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5628–5631. doi: 10.1073/pnas.74.12.5628. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Povey S., Slaughter C. A., Wilson D. E., Gormley I. P., Buckton K. E., Perry P., Bobrow M. Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man. Ann Hum Genet. 1976 May;39(4):413–422. doi: 10.1111/j.1469-1809.1976.tb00145.x. [DOI] [PubMed] [Google Scholar]
  13. RENWICK J. H., LAWLER S. D. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet. 1955 Jun;19(4):312–331. doi: 10.1111/j.1469-1809.1955.tb01356.x. [DOI] [PubMed] [Google Scholar]
  14. Rapley S., Robson E. B., Harris H., Smith S. M. Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism. Ann Hum Genet. 1968 Jan;31(3):237–242. doi: 10.1111/j.1469-1809.1968.tb00554.x. [DOI] [PubMed] [Google Scholar]
  15. 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]
  16. Robson E. B., Cook P. J., Buckton K. E. Family studies with the chromosome 9 markers ABO, AK1, ACONs and 9qh. Ann Hum Genet. 1977 Jul;41(1):53–60. doi: 10.1111/j.1469-1809.1977.tb01961.x. [DOI] [PubMed] [Google Scholar]
  17. Ruddle F. H., Creagan R. P. Parasexual approaches to the genetics of man. Annu Rev Genet. 1975;9:407–486. doi: 10.1146/annurev.ge.09.120175.002203. [DOI] [PubMed] [Google Scholar]
  18. Schleutermann D. A., Bias W. B., Murdoch J. L., McKusick V. A. Linkage of the loci for the nail-patella syndrome and adenylate kinase. Am J Hum Genet. 1969 Nov;21(6):606–630. [PMC free article] [PubMed] [Google Scholar]
  19. Shows T. B., Brown J. A. Mapping AK1, ACONs, and AK3 to chromosome 9 in man employing and X/9 translocation and somatic cell hybrids. Cytogenet Cell Genet. 1977;19(1):26–37. doi: 10.1159/000130791. [DOI] [PubMed] [Google Scholar]
  20. Slaughter C. A., Hopkinson D. A., Harris H. Aconitase polymorphism in man. Ann Hum Genet. 1975 Oct;39(2):193–202. doi: 10.1111/j.1469-1809.1975.tb00122.x. [DOI] [PubMed] [Google Scholar]
  21. Sparkes M. C., Crist M., Sparkes R. S. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12). Hum Genet. 1977 Dec 29;40(1):93–97. doi: 10.1007/BF00280835. [DOI] [PubMed] [Google Scholar]
  22. Sparkes R. S., Baluda M. C., Townsend D. E. Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. J Lab Clin Med. 1969 Mar;73(3):531–534. [PubMed] [Google Scholar]
  23. Sun N. C., Chang C. C., Chu E. H. Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase. Proc Natl Acad Sci U S A. 1974 Feb;71(2):404–407. doi: 10.1073/pnas.71.2.404. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Tedesco T. A., Diamond R., Orkwiszewski K. G., Boedecker H. J., Croce C. M. Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3. Proc Natl Acad Sci U S A. 1974 Sep;71(9):3483–3486. doi: 10.1073/pnas.71.9.3483. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Van Cong N., Weil D., Finaz C., Cochet C., Rebourcet R., De Grouchy J., Frézal J. Assignment of the ABO-Np-AK1 linkage group to chromosome 9 in man-hamster hybrids. Cytogenet Cell Genet. 1976;16(1-5):241–243. doi: 10.1159/000130601. [DOI] [PubMed] [Google Scholar]
  26. Weitkamp L. R., Sing C. F., Shreffler D. C., Guttormsen S. A. The genetic linkage relations of adenylate kinase: further data on the ABO-AK linkage group. Am J Hum Genet. 1969 Nov;21(6):600–605. [PMC free article] [PubMed] [Google Scholar]
  27. Westerveld A., Jongsma A. P., Meera Khan P., van Someren H., Bootsma D. Assignment of the AK1:Np:ABO linkage group to human chromosome 9. Proc Natl Acad Sci U S A. 1976 Mar;73(3):895–899. doi: 10.1073/pnas.73.3.895. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Wilson D. E., Povey S., Harris H. Adenylate kinases in man: evidence for a third locus. Ann Hum Genet. 1976 Jan;39(3):305–313. doi: 10.1111/j.1469-1809.1976.tb00134.x. [DOI] [PubMed] [Google Scholar]

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

RESOURCES