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. 1987 Nov;24(11):649–658. doi: 10.1136/jmg.24.11.649

The molecular genetics of human chromosome 6.

V Cunliffe 1, J Trowsdale 1
PMCID: PMC1050341  PMID: 3323517

Abstract

Chromosome 6 contains several clinically important markers as well as classical enzyme loci, proto-oncogenes, and a growing number of anonymous DNA restriction fragment length polymorphisms (RFLPs). It is also of unique interest because of the location of the major histocompatibility complex (MHC) on the short arm, at 6p21.3. The MHC is one of the most detailed areas of the human genetic map to date and many important diseases, some of a suspected autoimmune aetiology, are associated with it.

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Selected References

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  1. Alper C. A., Awdeh Z. L., Yunis E. J. Complotypes, extended haplotypes, male segregation distortion, and disease markers. Hum Immunol. 1986 Apr;15(4):366–373. doi: 10.1016/0198-8859(86)90013-3. [DOI] [PubMed] [Google Scholar]
  2. Beaudet A. L., Su T. S., O'Brien W. E., D'Eustachio P., Barker P. E., Ruddle F. H. Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome. Cell. 1982 Aug;30(1):287–293. doi: 10.1016/0092-8674(82)90034-4. [DOI] [PubMed] [Google Scholar]
  3. Bender K., Grzeschik K. H. Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids. Hum Genet. 1976 Mar 12;31(3):341–345. doi: 10.1007/BF00270864. [DOI] [PubMed] [Google Scholar]
  4. Berger R., Bloomfield C. D., Sutherland G. R. Report of the Committee on Chromosome Rearrangements in Neoplasia and on Fragile Sites. Cytogenet Cell Genet. 1985;40(1-4):490–535. doi: 10.1159/000132181. [DOI] [PubMed] [Google Scholar]
  5. Buc-Caron M. H., Gachelin G., Hofnung M., Jacob F. Presence of a mouse embryonic antigen on human spermatozoa. Proc Natl Acad Sci U S A. 1974 May;71(5):1730–1733. doi: 10.1073/pnas.71.5.1730. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Chen S. H., Donahue R. P., Scott C. R. Characterization of phosphoglycerate kinase from human spermatozoa. Fertil Steril. 1976 Jun;27(6):699–701. [PubMed] [Google Scholar]
  7. Chen T. R., McMorris F. A., Creagan R., Ricciuti F., Tischfield J., Ruddle F. Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man. Am J Hum Genet. 1973 Mar;25(2):200–207. [PMC free article] [PubMed] [Google Scholar]
  8. Cohen J. C., Murphey-Corb M. Targeted integration of baboon endogenous virus in the BEVI locus on human chromosome 6. Nature. 1983 Jan 13;301(5896):129–132. doi: 10.1038/301129a0. [DOI] [PubMed] [Google Scholar]
  9. Cragg S. J., Drysdale J., Worwood M. Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes. Hum Genet. 1985;71(2):108–112. doi: 10.1007/BF00283363. [DOI] [PubMed] [Google Scholar]
  10. Dalla-Favera R., Franchini G., Martinotti S., Wong-Staal F., Gallo R. C., Croce C. M. Chromosomal assignment of the human homologues of feline sarcoma virus and avian myeloblastosis virus onc genes. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4714–4717. doi: 10.1073/pnas.79.15.4714. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Eicher E. M., Cherry M., Flaherty L. Autosomal phosphoglycerate kinase linked to mouse major histocompatibility complex. Mol Gen Genet. 1978 Jan 17;158(3):225–228. doi: 10.1007/BF00267193. [DOI] [PubMed] [Google Scholar]
  12. Erickson R. P., Heidel L. A., Kapur J. J., Karolyi J. M., Odenheimer D. J., Pairitz G. L., Schultz J. S., Sing C. F. HLA antigens, phytohemagglutinin stimulation, and corticosteroid response. Am J Hum Genet. 1985 Jul;37(4):761–770. [PMC free article] [PubMed] [Google Scholar]
  13. Farid N. R., Noel E. P., Sampson L., Russell N. A. Prolactin secreting pituitary adenomata are possibly associated with HLA-B8. Tissue Antigens. 1980 Mar;15(3):333–335. doi: 10.1111/j.1399-0039.1980.tb00926.x. [DOI] [PubMed] [Google Scholar]
  14. Fellous M., Billardon C., Dausset J., Frézal J. Linkage probable entre les locus "HLA" et "P". C R Acad Sci Hebd Seances Acad Sci D. 1971 Jun 28;272(26):3356–3359. [PubMed] [Google Scholar]
  15. Francke U., Pellegrino M. A. Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1147–1151. doi: 10.1073/pnas.74.3.1147. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Goate A. M., Cooper D. N., Hall C., Leung T. K., Solomon E., Lim L. Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Hum Genet. 1987 Feb;75(2):123–128. doi: 10.1007/BF00591072. [DOI] [PubMed] [Google Scholar]
  17. Gosden J. R., Middleton P. G., Rout D. Localization of the human oestrogen receptor gene to chromosome 6q24----q27 by in situ hybridization. Cytogenet Cell Genet. 1986;43(3-4):218–220. doi: 10.1159/000132325. [DOI] [PubMed] [Google Scholar]
  18. Gupta C., Goldman A. H-2 histocompatibility region: influence on the murine glucocorticoid receptor and its response. Science. 1982 May 28;216(4549):994–996. doi: 10.1126/science.7079749. [DOI] [PubMed] [Google Scholar]
  19. Harada F., Nishimura Y., Suzuki K., Matsumoto H., Oohira T., Matsuda I., Sasazuki T. The patient with combined deficiency of neuraminidase and 21-hydroxylase. Hum Genet. 1987 Jan;75(1):91–92. doi: 10.1007/BF00273850. [DOI] [PubMed] [Google Scholar]
  20. Hardin J. W., Riser M. E., Trent J. M., Kohler P. O. The chorionic gonadotropin alpha-subunit gene is on human chromosome 18 in JEG cells. Proc Natl Acad Sci U S A. 1983 Oct;80(20):6282–6285. doi: 10.1073/pnas.80.20.6282. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Hardy D. A., Bell J. I., Long E. O., Lindsten T., McDevitt H. O. Mapping of the class II region of the human major histocompatibility complex by pulsed-field gel electrophoresis. Nature. 1986 Oct 2;323(6087):453–455. doi: 10.1038/323453a0. [DOI] [PubMed] [Google Scholar]
  22. Harper M. E., Franchini G., Love J., Simon M. I., Gallo R. C., Wong-Staal F. Chromosomal sublocalization of human c-myb and c-fes cellular onc genes. Nature. 1983 Jul 14;304(5922):169–171. doi: 10.1038/304169a0. [DOI] [PubMed] [Google Scholar]
  23. Hatch J. A., Atkinson J. P., Suarez B. K., Dykman T. R. Evaluation of linkage of the human C3b/C4b receptor to HLA. J Immunol. 1984 May;132(5):2168–2169. [PubMed] [Google Scholar]
  24. Jackson J. F., Currier R. D., Terasaki P. I., Morton N. E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138–1141. doi: 10.1056/NEJM197705192962003. [DOI] [PubMed] [Google Scholar]
  25. Jongsma A., van Someren H., Westerveld A., Hagemeijer A., Pearson P. Localization of genes on human chromosomes by studies of human-Chinese hamster somatic cell hybrids. Assignment of PGM3 to chromosome C6 and regional mapping of the PGD, PGM1 and pep-C genes on chromosome A1. Humangenetik. 1973 Dec 10;20(3):195–202. doi: 10.1007/BF00385730. [DOI] [PubMed] [Google Scholar]
  26. Knowles B. B., Mausner R., Aden D. P. Preliminary characterization of human cell surface molecules controlled by human chromosomes 6 and 7. Cytogenet Cell Genet. 1978;22(1-6):250–254. doi: 10.1159/000130948. [DOI] [PubMed] [Google Scholar]
  27. Koch G., Shows T. B. A gene on human chromosome 6 functions in assembly of tissue-specific adenosine deaminase isozymes. Proc Natl Acad Sci U S A. 1978 Aug;75(8):3876–3880. doi: 10.1073/pnas.75.8.3876. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Kozak L. P., McLean G. K., Eicher E. M. X linkage of phosphoglycerate kinase in the mouse. Biochem Genet. 1974 Jan;11(1):41–47. doi: 10.1007/BF00486618. [DOI] [PubMed] [Google Scholar]
  29. Kömpf J., Schunter F., Wernet P., Ritter H. Linkage between the loci for mitochondrial malic enzyme (ME2) and coagulation factor XIIIA subunit (F13A). Hum Genet. 1985;70(1):43–44. doi: 10.1007/BF00389457. [DOI] [PubMed] [Google Scholar]
  30. Lalley P. A., McKusick V. A. Report of the Committee on Comparative Mapping. Cytogenet Cell Genet. 1985;40(1-4):536–566. doi: 10.1159/000132187. [DOI] [PubMed] [Google Scholar]
  31. Lamm L. U., Friedrich U., Petersen C. B., Jorgensen J., Nielsen J., Therkelsen A. J., Kissmeyer-Nielsen F. Assignment of the major histocompatibility complex to chromosome No. 6 in a family with a pericentric inversion. Hum Hered. 1974;24(3):273–284. doi: 10.1159/000152660. [DOI] [PubMed] [Google Scholar]
  32. Levine F., Erlich H., Mach B., Leach R., White R., Pious D. Deletion mapping of HLA and chromosome 6p genes. Proc Natl Acad Sci U S A. 1985 Jun;82(11):3741–3745. doi: 10.1073/pnas.82.11.3741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. McBride O. W., Swan D. C., Tronick S. R., Gol R., Klimanis D., Moore D. E., Aaronson S. A. Regional chromosomal localization of N-ras, K-ras-1, K-ras-2 and myb oncogenes in human cells. Nucleic Acids Res. 1983 Dec 10;11(23):8221–8236. doi: 10.1093/nar/11.23.8221. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. McCarrey J. R., Thomas K. Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene. Nature. 1987 Apr 2;326(6112):501–505. doi: 10.1038/326501a0. [DOI] [PubMed] [Google Scholar]
  35. Morton N. E., Lalouel J. M., Jackson J. F., Currier R. D., Yee S. Linkage studies in spinocerebellar ataxia (SCA). Am J Med Genet. 1980;6(3):251–257. doi: 10.1002/ajmg.1320060309. [DOI] [PubMed] [Google Scholar]
  36. Morton N. E., Rao D. C., Lindsten J., Hultén M., Yee S. A chiasma map of man. Hum Hered. 1977;27(1):38–51. doi: 10.1159/000152850. [DOI] [PubMed] [Google Scholar]
  37. Müller U., Jongeneel C. V., Nedospasov S. A., Lindahl K. F., Steinmetz M. Tumour necrosis factor and lymphotoxin genes map close to H-2D in the mouse major histocompatibility complex. Nature. 1987 Jan 15;325(6101):265–267. doi: 10.1038/325265a0. [DOI] [PubMed] [Google Scholar]
  38. Müller U., Stephan D., Philippsen P., Steinmetz M. Orientation and molecular map position of the complement genes in the mouse MHC. EMBO J. 1987 Feb;6(2):369–373. doi: 10.1002/j.1460-2075.1987.tb04764.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Nagarajan L., Louie E., Tsujimoto Y., Balduzzi P. C., Huebner K., Croce C. M. The human c-ros gene (ROS) is located at chromosome region 6q16----6q22. Proc Natl Acad Sci U S A. 1986 Sep;83(17):6568–6572. doi: 10.1073/pnas.83.17.6568. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Nagarajan L., Louie E., Tsujimoto Y., ar-Rushdi A., Huebner K., Croce C. M. Localization of the human pim oncogene (PIM) to a region of chromosome 6 involved in translocations in acute leukemias. Proc Natl Acad Sci U S A. 1986 Apr;83(8):2556–2560. doi: 10.1073/pnas.83.8.2556. [DOI] [PMC free article] [PubMed] [Google Scholar]
  41. Naylor S. L., Chin W. W., Goodman H. M., Lalley P. A., Grzeschik K. H., Sakaguchi A. Y. Chromosome assignment of genes encoding the alpha and beta subunits of glycoprotein hormones in man and mouse. Somatic Cell Genet. 1983 Nov;9(6):757–770. doi: 10.1007/BF01539478. [DOI] [PubMed] [Google Scholar]
  42. Naylor S. L., Sakaguchi A. Y., Shows T. B., Grzeschik K. H., Holmes M., Zasloff M. Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A. 1983 Aug;80(16):5027–5031. doi: 10.1073/pnas.80.16.5027. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. O'Brien S. J., Nash W. G., Goodwin J. L., Lowy D. R., Chang E. H. Dispersion of the ras family of transforming genes to four different chromosomes in man. Nature. 1983 Apr 28;302(5911):839–842. doi: 10.1038/302839a0. [DOI] [PubMed] [Google Scholar]
  44. Olaisen B., Gedde-Dahl T., Jr, Teisberg P., Thorsby E., Siverts A., Jonassen R., Wilhelmy M. C. A structural locus for coagulation factor XIIIA (F13A) is located distal to the HLA region on chromosome 6p in man. Am J Hum Genet. 1985 Jan;37(1):215–220. [PMC free article] [PubMed] [Google Scholar]
  45. Owerbach D., Rutter W. J., Cooke N. E., Martial J. A., Shows T. B. The prolactin gene is located on chromosome 6 in humans. Science. 1981 May 15;212(4496):815–816. doi: 10.1126/science.7221563. [DOI] [PubMed] [Google Scholar]
  46. Pelicci P. G., Lanfrancone L., Brathwaite M. D., Wolman S. R., Dalla-Favera R. Amplification of the c-myb oncogene in a case of human acute myelogenous leukemia. Science. 1984 Jun 8;224(4653):1117–1121. doi: 10.1126/science.6585957. [DOI] [PubMed] [Google Scholar]
  47. Ragoussis J., van der Bliek A., Trowsdale J., Ziegler A. Mapping of HLA genes using pulsed-field gradient electrophoresis. FEBS Lett. 1986 Aug 11;204(1):1–4. doi: 10.1016/0014-5793(86)81376-x. [DOI] [PubMed] [Google Scholar]
  48. Rashidbaigi A., Langer J. A., Jung V., Jones C., Morse H. G., Tischfield J. A., Trill J. J., Kung H. F., Pestka S. The gene for the human immune interferon receptor is located on chromosome 6. Proc Natl Acad Sci U S A. 1986 Jan;83(2):384–388. doi: 10.1073/pnas.83.2.384. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Sakaguchi A. Y., Zabel B. U., Grzeschik K. H., Law M. L., Ellis R. W., Scolnick E. M., Naylor S. L. Regional localization of two human cellular Kirsten ras genes on chromosomes 6 and 12. Mol Cell Biol. 1984 May;4(5):989–993. doi: 10.1128/mcb.4.5.989. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Selten G., Cuypers H. T., Boelens W., Robanus-Maandag E., Verbeek J., Domen J., van Beveren C., Berns A. The primary structure of the putative oncogene pim-1 shows extensive homology with protein kinases. Cell. 1986 Aug 15;46(4):603–611. doi: 10.1016/0092-8674(86)90886-x. [DOI] [PubMed] [Google Scholar]
  51. Semba K., Yamanashi Y., Nishizawa M., Sukegawa J., Yoshida M., Sasaki M., Yamamoto T., Toyoshima K. Location of the c-yes gene on the human chromosome and its expression in various tissues. Science. 1985 Mar 1;227(4690):1038–1040. doi: 10.1126/science.2983418. [DOI] [PubMed] [Google Scholar]
  52. Spies T., Morton C. C., Nedospasov S. A., Fiers W., Pious D., Strominger J. L. Genes for the tumor necrosis factors alpha and beta are linked to the human major histocompatibility complex. Proc Natl Acad Sci U S A. 1986 Nov;83(22):8699–8702. doi: 10.1073/pnas.83.22.8699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  53. Su T. S., Nussbaum R. L., Airhart S., Ledbetter D. H., Mohandas T., O'Brien W. E., Beaudet A. L. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet. 1984 Sep;36(5):954–964. [PMC free article] [PubMed] [Google Scholar]
  54. Szabo P., Grzeschik K. H., Siniscalco M. A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci U S A. 1984 May;81(10):3167–3169. doi: 10.1073/pnas.81.10.3167. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. 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]
  56. Walker M. C., Marandici A., Martin K., Monder C. Genetic control of corticosteroid side-chain isomerase activity in the mouse. Endocrinology. 1983 Mar;112(3):924–930. doi: 10.1210/endo-112-3-924. [DOI] [PubMed] [Google Scholar]
  57. Walter P., Green S., Greene G., Krust A., Bornert J. M., Jeltsch J. M., Staub A., Jensen E., Scrace G., Waterfield M. Cloning of the human estrogen receptor cDNA. Proc Natl Acad Sci U S A. 1985 Dec;82(23):7889–7893. doi: 10.1073/pnas.82.23.7889. [DOI] [PMC free article] [PubMed] [Google Scholar]
  58. Weitkamp L. R. Linkage of GLO with HLA and Bf. Effect of population and sex on recombination frequency. Tissue Antigens. 1976 May;7(5):273–279. doi: 10.1111/j.1399-0039.1976.tb01068.x. [DOI] [PubMed] [Google Scholar]
  59. Willison K., Kelly A., Dudley K., Goodfellow P., Spurr N., Groves V., Gorman P., Sheer D., Trowsdale J. The human homologue of the mouse t-complex gene, TCP1, is located on chromosome 6 but is not near the HLA region. EMBO J. 1987 Jul;6(7):1967–1974. doi: 10.1002/j.1460-2075.1987.tb02459.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  60. Young J. A., Trowsdale J. A processed pseudogene in an intron of the HLA-DP beta 1 chain gene is a member of the ribosomal protein L32 gene family. Nucleic Acids Res. 1985 Dec 20;13(24):8883–8891. doi: 10.1093/nar/13.24.8883. [DOI] [PMC free article] [PubMed] [Google Scholar]
  61. Zabel B. U., Naylor S. L., Grzeschik K. H., Sakaguchi A. Y. Regional assignment of human protooncogene c-myb to 6q21----qter. Somat Cell Mol Genet. 1984 Jan;10(1):105–108. doi: 10.1007/BF01534477. [DOI] [PubMed] [Google Scholar]
  62. de Préval C., Lisowska-Grospierre B., Loche M., Griscelli C., Mach B. A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. Nature. 1985 Nov 21;318(6043):291–293. doi: 10.1038/318291a0. [DOI] [PubMed] [Google Scholar]

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