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. 1989 Dec;45(6):829–834.

Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1.

L Pajunen 1, T A Jones 1, T Helaakoski 1, T Pihlajaniemi 1, E Solomon 1, D Sheer 1, K I Kivirikko 1
PMCID: PMC1683466  PMID: 2556027

Abstract

Prolyl 4-hydroxylase, an alpha 2 beta 2 tetramer, catalyzes the formation of 4-hydroxyproline in collagens by the hydroxylation of proline residues in peptide linkages and plays a crucial role in the synthesis of these proteins. The gene for the beta-subunit of prolyl 4-hydroxylase has recently been mapped to the long arm of human chromosome 17, at band 17q25. We report here chromosomal localization of the gene for the catalytically and regulatorily important alpha-subunit of human prolyl 4-hydroxylase. Analysis of 24 rodent x human cell hybrids by Southern blotting with cDNA probes for the human alpha-subunit indicated complete cosegregation of the gene for the alpha-subunit with human chromosome 10. A cell hybrid containing only part of chromosome 10 mapped the gene to 10q11----qter. In situ hybridization mapped the gene to 10q21.3-23.1. The gene for the alpha-subunit is thus not physically linked to that for the beta-subunit of the enzyme.

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Selected References

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  1. Andrews P. W., Knowles B. B., Goodfellow P. N. A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on chromosome 12. Somatic Cell Genet. 1981 Jul;7(4):435–443. doi: 10.1007/BF01542988. [DOI] [PubMed] [Google Scholar]
  2. Bai Y., Sheer D., Hiorns L., Knowles R. W., Tunnacliffe A. A monoclonal antibody recognizing a cell surface antigen coded for by a gene on human chromosome 17. Ann Hum Genet. 1982 Oct;46(Pt 4):337–347. doi: 10.1111/j.1469-1809.1982.tb01584.x. [DOI] [PubMed] [Google Scholar]
  3. Bobrow M., Cross J. Differential staining of human and mouse chromosomes in interspecific cell hybrids. Nature. 1974 Sep 6;251(5470):77–79. doi: 10.1038/251077a0. [DOI] [PubMed] [Google Scholar]
  4. Bruns G., Stroh H., Veldman G. M., Latt S. A., Floros J. The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10. Hum Genet. 1987 May;76(1):58–62. doi: 10.1007/BF00283051. [DOI] [PubMed] [Google Scholar]
  5. Cheng S. Y., Gong Q. H., Parkison C., Robinson E. A., Appella E., Merlino G. T., Pastan I. The nucleotide sequence of a human cellular thyroid hormone binding protein present in endoplasmic reticulum. J Biol Chem. 1987 Aug 15;262(23):11221–11227. [PubMed] [Google Scholar]
  6. Croce C. M., Koprowski H. Somatic cell hybrids between mouse peritoneal macrophages and SV40-transformed human cells. I. Positive control of the transformed phenotype by the human chromosome 7 carrying the SV40 genome. J Exp Med. 1974 Nov 1;140(5):1221–1229. doi: 10.1084/jem.140.5.1221. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. Floros J., Steinbrink R., Jacobs K., Phelps D., Kriz R., Recny M., Sultzman L., Jones S., Taeusch H. W., Frank H. A. Isolation and characterization of cDNA clones for the 35-kDa pulmonary surfactant-associated protein. J Biol Chem. 1986 Jul 5;261(19):9029–9033. [PubMed] [Google Scholar]
  9. Geetha-Habib M., Noiva R., Kaplan H. A., Lennarz W. J. Glycosylation site binding protein, a component of oligosaccharyl transferase, is highly similar to three other 57 kd luminal proteins of the ER. Cell. 1988 Sep 23;54(7):1053–1060. doi: 10.1016/0092-8674(88)90120-1. [DOI] [PubMed] [Google Scholar]
  10. Goodfellow P. N., Banting G., Wiles M. V., Tunnacliffe A., Parkar M., Solomon E., Dalchau R., Fabre J. W. The gene, MIC4, which controls expression of the antigen defined by monoclonal antibody F10.44.2, is on human chromosome 11. Eur J Immunol. 1982 Aug;12(8):659–663. doi: 10.1002/eji.1830120807. [DOI] [PubMed] [Google Scholar]
  11. Gordon M. K., Gerecke D. R., Olsen B. R. Type XII collagen: distinct extracellular matrix component discovered by cDNA cloning. Proc Natl Acad Sci U S A. 1987 Sep;84(17):6040–6044. doi: 10.1073/pnas.84.17.6040. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Harper M. E., Saunders G. F. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization. Chromosoma. 1981;83(3):431–439. doi: 10.1007/BF00327364. [DOI] [PubMed] [Google Scholar]
  13. Heisterkamp N., Groffen J., Stephenson J. R., Spurr N. K., Goodfellow P. N., Solomon E., Carritt B., Bodmer W. F. Chromosomal localization of human cellular homologues of two viral oncogenes. Nature. 1982 Oct 21;299(5885):747–749. doi: 10.1038/299747a0. [DOI] [PubMed] [Google Scholar]
  14. Helaakoski T., Vuori K., Myllylä R., Kivirikko K. I., Pihlajaniemi T. Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts. Proc Natl Acad Sci U S A. 1989 Jun;86(12):4392–4396. doi: 10.1073/pnas.86.12.4392. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Huerre C., Junien C., Weil D., Chu M. L., Morabito M., Van Cong N., Myers J. C., Foubert C., Gross M. S., Prockop D. J. Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6627–6630. doi: 10.1073/pnas.79.21.6627. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Jones C., Moore E. E. Isolation of mutants lacking branched-chain amino acid transaminase. Somatic Cell Genet. 1976 May;2(3):235–243. doi: 10.1007/BF01538962. [DOI] [PubMed] [Google Scholar]
  17. Kimura T., Mattei M. G., Stevens J. W., Goldring M. B., Ninomiya Y., Olsen B. R. Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6. Eur J Biochem. 1989 Jan 15;179(1):71–78. doi: 10.1111/j.1432-1033.1989.tb14522.x. [DOI] [PubMed] [Google Scholar]
  18. Kivirikko K. I., Myllylä R., Pihlajaniemi T. Protein hydroxylation: prolyl 4-hydroxylase, an enzyme with four cosubstrates and a multifunctional subunit. FASEB J. 1989 Mar;3(5):1609–1617. [PubMed] [Google Scholar]
  19. Kivirikko K. I., Myllylä R. Post-translational processing of procollagens. Ann N Y Acad Sci. 1985;460:187–201. doi: 10.1111/j.1749-6632.1985.tb51167.x. [DOI] [PubMed] [Google Scholar]
  20. Koivu J., Myllylä R., Helaakoski T., Pihlajaniemi T., Tasanen K., Kivirikko K. I. A single polypeptide acts both as the beta subunit of prolyl 4-hydroxylase and as a protein disulfide-isomerase. J Biol Chem. 1987 May 15;262(14):6447–6449. [PubMed] [Google Scholar]
  21. Miller E. J., Gay S. The collagens: an overview and update. Methods Enzymol. 1987;144:3–41. doi: 10.1016/0076-6879(87)44170-0. [DOI] [PubMed] [Google Scholar]
  22. Mulley J. C., Callen D. F. New regional localisations for HAGH and PGP on human chromosome 16. Hum Genet. 1986 Dec;74(4):423–424. doi: 10.1007/BF00280498. [DOI] [PubMed] [Google Scholar]
  23. Myers J. C., Emanuel B. S. Chromosomal localization of human collagen genes. Coll Relat Res. 1987 Jun;7(2):149–159. doi: 10.1016/s0174-173x(87)80006-7. [DOI] [PubMed] [Google Scholar]
  24. Nabholz M., Miggiano V., Bodmer W. Genetic analysis with human--mouse somatic cell hybrids. Nature. 1969 Jul 26;223(5204):358–363. doi: 10.1038/223358a0. [DOI] [PubMed] [Google Scholar]
  25. Pajunen L., Myllylä R., Helaakoski T., Pihlajaniemi T., Tasanen K., Höyhtyä M., Tryggvason K., Solomon E., Kivirikko K. I. Assignment of the gene coding for both the beta-subunit of prolyl 4-hydroxylase and the enzyme disulfide isomerase to human chromosome region 17p11----qter. Cytogenet Cell Genet. 1988;47(1-2):37–41. doi: 10.1159/000132501. [DOI] [PubMed] [Google Scholar]
  26. Pihlajaniemi T., Helaakoski T., Tasanen K., Myllylä R., Huhtala M. L., Koivu J., Kivirikko K. I. Molecular cloning of the beta-subunit of human prolyl 4-hydroxylase. This subunit and protein disulphide isomerase are products of the same gene. EMBO J. 1987 Mar;6(3):643–649. doi: 10.1002/j.1460-2075.1987.tb04803.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Pihlajaniemi T., Myllylä R., Seyer J., Kurkinen M., Prockop D. J. Partial characterization of a low molecular weight human collagen that undergoes alternative splicing. Proc Natl Acad Sci U S A. 1987 Feb;84(4):940–944. doi: 10.1073/pnas.84.4.940. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Popescu N. C., Cheng S. Y., Pastan I. Chromosomal localization of the gene for a human thyroid hormone-binding protein. Am J Hum Genet. 1988 Apr;42(4):560–564. [PMC free article] [PubMed] [Google Scholar]
  29. Prockop D. J., Kivirikko K. I. Heritable diseases of collagen. N Engl J Med. 1984 Aug 9;311(6):376–386. doi: 10.1056/NEJM198408093110606. [DOI] [PubMed] [Google Scholar]
  30. Retief E., Parker M. I., Retief A. E. Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1). Hum Genet. 1985;69(4):304–308. doi: 10.1007/BF00291646. [DOI] [PubMed] [Google Scholar]
  31. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
  32. Shows T. B., Tikka L., Byers M. G., Eddy R. L., Haley L. L., Henry W. M., Prockop D. J., Tryggvason K. Assignment of the human collagen alpha 1 (XIII) chain gene (COL13A1) to the q22 region of chromosome 10. Genomics. 1989 Jul;5(1):128–133. doi: 10.1016/0888-7543(89)90096-7. [DOI] [PubMed] [Google Scholar]
  33. Solomon E., Bobrow M., Goodfellow P. N., Bodmer W. F., Swallow D. M., Povey S., Noël B. Human gene mapping using an X/autosome translocation. Somatic Cell Genet. 1976 Mar;2(2):125–140. doi: 10.1007/BF01542626. [DOI] [PubMed] [Google Scholar]
  34. Solomon E., Hiorns L., Sheer D., Rowe D. Confirmation that the type I collagen gene on chromosome 17 is COL1A1 (alpha 1(I), using a human genomic probe. Ann Hum Genet. 1984 Jan;48(Pt 1):39–42. doi: 10.1111/j.1469-1809.1984.tb00831.x. [DOI] [PubMed] [Google Scholar]
  35. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  36. Swallow D. M., Solomon E., Pajunen L. Immunochemical analysis of the N-acetyl hexosaminidases in human-mouse hybrids made using a double selective system. Cytogenet Cell Genet. 1977;18(3):136–148. doi: 10.1159/000130758. [DOI] [PubMed] [Google Scholar]
  37. Voss R., Lerer I., Povey S., Solomon E., Bobrow M. Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet. 1980 Jul;44(Pt 1):1–9. doi: 10.1111/j.1469-1809.1980.tb00940.x. [DOI] [PubMed] [Google Scholar]
  38. Weil D., Mattei M. G., Passage E., N'Guyen V. C., Pribula-Conway D., Mann K., Deutzmann R., Timpl R., Chu M. L. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet. 1988 Mar;42(3):435–445. [PMC free article] [PubMed] [Google Scholar]
  39. Wolff S., Perry P. Differential Giemsa staining of sister chromatids and the study of chromatid exchanges without autoradiography. Chromosoma. 1974;48(4):341–353. doi: 10.1007/BF00290991. [DOI] [PubMed] [Google Scholar]
  40. Yamauchi K., Yamamoto T., Hayashi H., Koya S., Takikawa H., Toyoshima K., Horiuchi R. Sequence of membrane-associated thyroid hormone binding protein from bovine liver: its identity with protein disulphide isomerase. Biochem Biophys Res Commun. 1987 Aug 14;146(3):1485–1492. doi: 10.1016/0006-291x(87)90817-5. [DOI] [PubMed] [Google Scholar]
  41. Zabel B. U., Naylor S. L., Sakaguchi A. Y., Bell G. I., Shows T. B. High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization. Proc Natl Acad Sci U S A. 1983 Nov;80(22):6932–6936. doi: 10.1073/pnas.80.22.6932. [DOI] [PMC free article] [PubMed] [Google Scholar]

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