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. 1985 Jul 11;13(13):4613–4622. doi: 10.1093/nar/13.13.4613

A highly polymorphic region 3' to the human type II collagen gene.

N G Stoker, K S Cheah, J R Griffin, F M Pope, E Solomon
PMCID: PMC321815  PMID: 4022769

Abstract

We have characterised a highly polymorphic region 1.3kb downstream of the human Type II collagen gene. It consists of a highly AT-rich tandem repetitive region (minisatellite) approximately 650bp long. Two alleles had been observed previously, differing in size by approximately 300bp. When this region was cloned from four unrelated individuals carrying the larger allele, DNA sequence data identified three alleles, suggesting far higher polymorphism than was originally supposed. This minisatellite was shown to be present in a single copy in the human genome, and to have arisen after the divergence of Old and New World monkeys.

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Selected References

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  1. Aho S., Tate V., Boedtker H. Multiple 3' ends of the chicken pro alpha 2(I) collagen gene. Nucleic Acids Res. 1983 Aug 25;11(16):5443–5450. doi: 10.1093/nar/11.16.5443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bell G. I., Selby M. J., Rutter W. J. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature. 1982 Jan 7;295(5844):31–35. doi: 10.1038/295031a0. [DOI] [PubMed] [Google Scholar]
  3. Capon D. J., Chen E. Y., Levinson A. D., Seeburg P. H., Goeddel D. V. Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue. Nature. 1983 Mar 3;302(5903):33–37. doi: 10.1038/302033a0. [DOI] [PubMed] [Google Scholar]
  4. Cheah K. S., Stoker N. G., Griffin J. R., Grosveld F. G., Solomon E. Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci U S A. 1985 May;82(9):2555–2559. doi: 10.1073/pnas.82.9.2555. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Chebloune Y., Trabuchet G., Poncet D., Cohen-Solal M., Faure C., Verdier G., Nigon V. M. A new method for detection of small modifications in genomic DNA, applied to the human delta-beta globin gene cluster. Eur J Biochem. 1984 Aug 1;142(3):473–480. doi: 10.1111/j.1432-1033.1984.tb08310.x. [DOI] [PubMed] [Google Scholar]
  6. Dente L., Cesareni G., Cortese R. pEMBL: a new family of single stranded plasmids. Nucleic Acids Res. 1983 Mar 25;11(6):1645–1655. doi: 10.1093/nar/11.6.1645. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Driesel A. J., Schumacher A. M., Flavell R. A. A Hind III restriction site polymorphism in the human collagen alpha 1 (I)-like gene on chromosome No. 7. Hum Genet. 1982;62(2):175–176. doi: 10.1007/BF00282310. [DOI] [PubMed] [Google Scholar]
  8. Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
  9. Goodbourn S. E., Higgs D. R., Clegg J. B., Weatherall D. J. Molecular basis of length polymorphism in the human zeta-globin gene complex. Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022–5026. doi: 10.1073/pnas.80.16.5022. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Grosveld F. G., Lund T., Murray E. J., Mellor A. L., Dahl H. H., Flavell R. A. The construction of cosmid libraries which can be used to transform eukaryotic cells. Nucleic Acids Res. 1982 Nov 11;10(21):6715–6732. doi: 10.1093/nar/10.21.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Henikoff S. Unidirectional digestion with exonuclease III creates targeted breakpoints for DNA sequencing. Gene. 1984 Jun;28(3):351–359. doi: 10.1016/0378-1119(84)90153-7. [DOI] [PubMed] [Google Scholar]
  12. Higgs D. R., Goodbourn S. E., Wainscoat J. S., Clegg J. B., Weatherall D. J. Highly variable regions of DNA flank the human alpha globin genes. Nucleic Acids Res. 1981 Sep 11;9(17):4213–4224. doi: 10.1093/nar/9.17.4213. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Ish-Horowicz D., Burke J. F. Rapid and efficient cosmid cloning. Nucleic Acids Res. 1981 Jul 10;9(13):2989–2998. doi: 10.1093/nar/9.13.2989. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Jeffreys A. J., Wilson V., Thein S. L. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7;314(6006):67–73. doi: 10.1038/314067a0. [DOI] [PubMed] [Google Scholar]
  15. Krontiris T. G., DiMartino N. A., Colb M., Parkinson D. R. Unique allelic restriction fragments of the human Ha-ras locus in leukocyte and tumour DNAs of cancer patients. 1985 Jan 31-Feb 6Nature. 313(6001):369–374. doi: 10.1038/313369a0. [DOI] [PubMed] [Google Scholar]
  16. McLauchlan J., Gaffney D., Whitton J. L., Clements J. B. The consensus sequence YGTGTTYY located downstream from the AATAAA signal is required for efficient formation of mRNA 3' termini. Nucleic Acids Res. 1985 Feb 25;13(4):1347–1368. doi: 10.1093/nar/13.4.1347. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Myers J. C., Dickson L. A., de Wet W. J., Bernard M. P., Chu M. L., Di Liberto M., Pepe G., Sangiorgi F. O., Ramirez F. Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem. 1983 Aug 25;258(16):10128–10135. [PubMed] [Google Scholar]
  18. Pope F. M., Cheah K. S., Nicholls A. C., Price A. B., Grosveld F. G. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen. Br Med J (Clin Res Ed) 1984 Feb 11;288(6415):431–434. doi: 10.1136/bmj.288.6415.431. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Proudfoot N. J., Gil A., Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982 Dec;31(3 Pt 2):553–563. doi: 10.1016/0092-8674(82)90311-7. [DOI] [PubMed] [Google Scholar]
  20. Rixon F. J., Campbell M. E., Clements J. B. A tandemly reiterated DNA sequence in the long repeat region of herpes simplex virus type 1 found in close proximity to immediate-early mRNA 1. J Virol. 1984 Nov;52(2):715–718. doi: 10.1128/jvi.52.2.715-718.1984. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Rogers J. H. The origin and evolution of retroposons. Int Rev Cytol. 1985;93:187–279. doi: 10.1016/s0074-7696(08)61375-3. [DOI] [PubMed] [Google Scholar]
  22. Sandell L. J., Prentice H. L., Kravis D., Upholt W. B. Structure and sequence of the chicken type II procollagen gene. Characterization of the region encoding the carboxyl-terminal telopeptide and propeptide. J Biol Chem. 1984 Jun 25;259(12):7826–7834. [PubMed] [Google Scholar]
  23. Sangiorgi F. O., Benson-Chanda V., de Wet W. J., Sobel M. E., Tsipouras P., Ramirez F. Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene. Nucleic Acids Res. 1985 Apr 11;13(7):2207–2225. doi: 10.1093/nar/13.7.2207. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Sarich V. M., Cronin J. E. Generation length and rates of hominoid molecular evolution. Nature. 1977 Sep 22;269(5626):354–355. doi: 10.1038/269354a0. [DOI] [PubMed] [Google Scholar]
  25. Solomon E., Hiorns L. R., Spurr N., Kurkinen M., Barlow D., Hogan B. L., Dalgleish R. Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. Proc Natl Acad Sci U S A. 1985 May;82(10):3330–3334. doi: 10.1073/pnas.82.10.3330. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Spritz R. A. Duplication/deletion polymorphism 5' - to the human beta globin gene. Nucleic Acids Res. 1981 Oct 10;9(19):5037–5047. doi: 10.1093/nar/9.19.5037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Strom C. M., Eddy R. L., Shows T. B. Localization of human type II procollagen gene (COL2A1) to chromosome 12. Somat Cell Mol Genet. 1984 Nov;10(6):651–655. doi: 10.1007/BF01535232. [DOI] [PubMed] [Google Scholar]
  28. Strom C. M., Upholt W. B. Isolation and characterization of genomic clones corresponding to the human type II procollagen gene. Nucleic Acids Res. 1984 Jan 25;12(2):1025–1038. doi: 10.1093/nar/12.2.1025. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Sykes B. C., Ogilvie D. J., Wordsworth B. P. Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation. Hum Genet. 1985;70(1):35–37. doi: 10.1007/BF00389455. [DOI] [PubMed] [Google Scholar]
  30. Sykes B., Smith R., Vipond S., Paterson C., Cheah K., Solomon E. Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. J Med Genet. 1985 Jun;22(3):187–191. doi: 10.1136/jmg.22.3.187. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Vuorio E., Elima K., Pulkkinen J., Viitanen A. M. Identification of messenger RNA for human type II collagen. FEBS Lett. 1984 Sep 3;174(2):238–242. doi: 10.1016/0014-5793(84)81165-5. [DOI] [PubMed] [Google Scholar]
  32. Vuorio E., Sandell L., Kravis D., Sheffield V. C., Vuorio T., Dorfman A., Upholt W. B. Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage. Nucleic Acids Res. 1982 Feb 25;10(4):1175–1192. doi: 10.1093/nar/10.4.1175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Weiss E. H., Cheah K. S., Grosveld F. G., Dahl H. H., Solomon E., Flavell R. A. Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library. Nucleic Acids Res. 1982 Mar 25;10(6):1981–1994. doi: 10.1093/nar/10.6.1981. [DOI] [PMC free article] [PubMed] [Google Scholar]

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