Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

Two type II keratin genes are localized on human chromosome 12


Human genomic DNA containing two type II keratin genes, one coding for keratin 1 (K1, a 68-kD basic protein) and another closely linked type II gene 10–15 kb upstream (K?, gene product unknown), was isolated on a single cosmid clone. EcoRI restriction fragments of the cosmid were subcloned into pGEM-3Z, and specific probes comprising the C-terminal coding and 3′ noncoding regions of the two genes were constructed. The type II keratin genes were localized by in situ hybridization of the subcloned probes to normal human lymphocyte chromosomes. In a total of 70 chromosome spreads hybridized with the K? probe (gHK?-3′, PstI, 800 bp), 36 of the 105 grains observed were on chromosome 12, and 32 of these were clustered on the long arm near the centromere (12q11–13). In 100 labeled metaphases hybridized with the K1 probe (gHK1–3′, BamHI-PstI, 2100 bp), 53 grains localized to chromosome 12 and 46 of these were found in the same region (q11–13). Therefore, both the gene for human keratin 1, a specific marker for terminal differentiation in mammalian epidermis, and another closely linked unknown type II keratin gene (K?, 10–15 kb upstream of K1) are on the long arm (q11–13) of human chromosome 12.

This is a preview of subscription content, log in to check access.


  1. Anderton BH (1981) Intermediate filaments: a family of homologous structures. J Muscle Res Cell Motil 2:141–166

  2. Andrews PW, Damjanov I, Simon D, Banting GS, Carlin C, Dracopoli NC, Fogh J (1984) Pluripotent embryonal carcinoma clones derived from the human teratocarcinoma cell line Tera-2: differentiation in vivo and in vitro. Lab Invest 50:147–162

  3. Atkin NB, Baker MC (1982) Specific chromosome change, i(12p), in testicular tumors? Lancet II:1349

  4. Blumenberg M, Savtchenko ES (1987) Linkage of human keratin genes. Cytogenet Cell Genet 42:65–71

  5. Bowden PE, Quinlan RA, Breitkreutz D, Fusenig NE (1984) Proteolytic modification of acidic and basic keratins during terminal differentiation of mouse and human epidermis. Eur J Biochem 142:29–36

  6. Bowden PE, Stark HJ, Breitkreutz D, Fusenig NE (1987a) Expression and modification of keratins during terminal differentiation of mammalian epidermis. Curr Top Dev Biol 22:35–68

  7. Bowden PE, Blanchard A, Steinert PM (1987b) Linkage of epidermal keratin genes isolated on large human cosmid clones. J Invest Dermatol 88:478

  8. Bowden PE, Blanchard A, Steinert PM (1988) Human epidermal keratin genes isolated from different genomic libraries exhibit restriction length polymorphism. J Invest Dermatol 90:548

  9. Cannizzaro LA, Heubner K, Griffen CA, Simeone A, Boncinelli E, Croce CM (1987) Human homeo box-containing genes located at chromosome regions 2q31–2q37 and 12q12–12q13. Am J Hum Genet 41:1–15

  10. Davies MS, West LF, Davis MB, Povey S, Craig RK (1987) The gene for human lactalbumin is assigned to chromosome 12q13. Ann Hum Genet 51:183–188

  11. Ferrari S, Cannizzaro LA, Battini R, Huebner K, Baserga R (1987) The gene encoding human vimentin is located on the short arm of chromosome 10. Am J Hum Genet 41:616–626

  12. Harper ME, Saunders GF (1981) Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83:431–439

  13. Hotta H, Ross AH, Huebner K, Isobe M, Wendeborn S, Chao MV, Riccardi RP, Tsujimoto Y, Croce CM, Koprowski H (1988) Molecular cloning and characterization of an antigen associated with early stages of melanoma tumor progression. Cancer Res 48:2955–2962

  14. Hurst J, Flavell D, Julien JP, Meijer D, Mushynski W, Grosveld F (1987) The human neurofilament gene (NEFL) is located on the short arm of chromosome 8. Cytogenet Cell Genet 45:30–32

  15. Kinzler KW, Bigner SH, Bigner DD, Trent JM, Law ML, O'Brien SJ, Wong AJ, Vogelstein B (1987) Identification of an amplified, highly expressed gene in a human glioma. Science 236:70–73

  16. Limon J, Turc-Carel C, Dal Cin P, Rao U, Sandberg AA (1986) Recurrent chromosome translocations in liposarcoma. Cancer Genet Cytogenet 22:93–94

  17. Moll R, Franke WW, Schiller DL, Geiger B, Krepler R (1982) The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells. Cell 31:11–24

  18. Popescu NC, Amsbaugh SC, Swan DC, DiPaolo JA (1985) Induction of chromosome banding by trypsin/EDTA for gene mapping by in situ hybridization. Cytogenet Cell Genet 39:73–74

  19. Popescu NC, Amsbaugh SC, DiPaolo JA (1987) Human papillomavirus type 18 DNA is integrated at a single chromosome site in cervical carcinoma cell line SW756. J Virol 51:1682–1685

  20. Powell BC, Cam GR, Feitz MJ, Rogers GE (1986) Clustered arrangement of keratin intermediate filament genes. Proc Natl Acad Sci USA 83:5048–5052

  21. Quax W, Khan PM, Quax-Jeuken Y, Bloemendal H (1985) The human desmin and vimentin genes are located on different chromosomes. Gene 38:189–196

  22. Quinlan RA, Schiller DL, Hatzfeld M, Achtstatter T, Moll R, Jorcano JL, Magin TM, Franke WW (1985) Patterns of expression and organization of cytokeratin intermediate filaments. Ann NY Acad Sci 455:282–306

  23. RayChaudhury M, Marchuk D, Lindhurst M, Fuchs E (1986) Three tightly linked genes encoding human type I keratins: conservation of sequence in the 5′-untranslated leader and 5′-upstream regions of coexpressed keratin genes. Mol Cell Biol 6:539–548

  24. Romano V, Bosco P, Costa G, Leube R, Franke WW, Rocchi M, Romeo G (1987) Chromosomal assignment of cytokeratin genes. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:683 (abstr)

  25. Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (1988) A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol 8:722–736

  26. Schweizer J, Kinjo M, Furstenburger G, Winter H (1984) Sequential expression of mRNA-encoded keratin sets in neonatal mouse epidermis: basal cells with properties of terminally differentiating cells. Cell 37:159–170

  27. Shuler CF, Schwartz SA (1986) Embryogenesis of stratified squamous epithelium. II. Developmental stage-specific immunoreactivity of keratins. Exp Cell Biol 54:310–318

  28. Simeone A, Pannese M, Acampora D, D'Esposito M, Boncinelli E (1988) At least three human homeoboxes on chromosome 12 belong to the same transcription unit. Nucleic Acids Res 16:5379–5390

  29. Snow MHL (1986) New data from mammalian homeobox-containing genes. Nature 324:618–619

  30. Steinert PM, Parry DAD (1985) Intermediate filaments: conformity and diversity of expression and structure. Annu Rev Cell Biol 1:41–65

  31. Steinert PM, Parry DAD, Idler WW, Johnson LD, Steven AC, Roop DR (1985a) Amino acid sequences of mouse and human epidermal type II keratins of Mr 67000 provide a systematic basis for the structural and functional diversity of the end domains of keratin IF-subunits. J Biol Chem 260:7142–7149

  32. Steinert PM, Steven AC, Roop DR (1985b) The molecular biology of intermediate filaments. Cell 42:411–419

  33. Sun TT, Eichner R, Nelson WG, Tseng SCG, Weiss RA, Jarvinen M Woodcock-Mitchell J (1983) Keratin classes: molecular markers for different types of epithelial differentiation. J Invest Dermatol 81:109s-115s

  34. Sun TT, Tseng SCG, Huang AJW, Cooper D, Schermer A, Lynch MH, Weiss R, Eichner R (1985) Monoclonal antibody studies of mammalian epithelial keratins: a review. Ann NY Acad Sci 455: 307–329

  35. Sutherland GR, Hinton L (1981) Heritable fragile site on human chromosomes. I. Characterization of the fragile site at 12q13. Hum Genet 57:217–219

  36. Tanguay RM, Berube D, Gagne R (1988) Localization of histone genes to chromosomes 6, 12 and 1 by in situ hybridization. Cytogenet Cell Genet 47:762–769

  37. Tripputi P, Emanuel BS, Croce CM, Green LG, Stein GS, Stein JL (1986) Human histone genes map to multiple chromosomes. Proc Natl Acad Sci USA 83:3185–3188

  38. Turc-Carel C, Limon J, Dal Cin P, Rao U, Karakousis C, Sandberg AA (1986) Cytogenetic studies of adipose tissue tumors. II. Recurrent reciprocal translocation t(12;16)(q13;p11) in myxoid liposarcomas. Cancer Genet Cytogenet 23:291–299

  39. Turc-Carel C, Pietrzak E, Kakati S, Kinniburgh AJ, Sandberg AA (1987) The human int-1 gene is located at chromosome region 12q12–12q13 and is not rearranged in myxoid liposarcoma with t(12;16)(q13;p11). Oncogene Res 1:397–405

  40. Van't Veer LJ, Geurts van Kessel A, Heerikhuizen H van, Ooyen A van, Nusse R (1984) Molecular cloning and chromosomal assignment of the human homolog of int-1, a mouse gene implicated in mammary tumorigenesis. Mol Cell Biol 4:2532–2534

  41. Viebahn C, Lane EB, Ramaekers FCS (1988) Keratin and vimentin expression in early organogenesis of the rabbit embryo. Cell Tissue Res 253:553–562

Download references

Author information

Correspondence to N. C. Popescu.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Popescu, N.C., Bowden, P.E. & DiPaolo, J.A. Two type II keratin genes are localized on human chromosome 12. Hum Genet 82, 109–112 (1989).

Download citation


  • Human Chromosome
  • Basic Protein
  • Human Lymphocyte
  • Terminal Differentiation
  • Noncoding Region