Summary
The chromosomal distribution and degree of repetitiveness of the sequences within the human β globin gene cluster has been studied by in situ hybridisation. A genomic recombinant, H\G1, which contains 15.9 thousand base pairs (kb) of DNA inserted into λ charon 4A, was used as a template for the [3H] complementary RNA used for hybridisation. The inserted DNA contains sequences 4.7 kb to the 5′ side of the δ gene and continues through the δ and β genes to a site 2.8 kb to the 3′ side of the β gene. Two highly repetitive sequences, which are distributed evenly over all the chromosomes, have been identified within this DNA. Another somewhat less repetitive sequence has been identified between the β and δ genes.
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Bazaral K, Helinski DR (1968) Circular DNA forms of colicinogenic factor E1, E2 and E3 from Escherichia Coli. J Mol Biol 36:185–194
Bernards R, Little PFR, Annison G, Williamson R, Flavell RA (1979) Structure of the human Gγ–Aγ–δ–β globin gene locus. Proc Natl Acad Sci USA 76:1827–1831
Boyd CD, Tolstoshev P, Schafer MP, Trapnell BC, Coon BC, Kretschmer PJ, Nienhuis AW, Crystal RG (1980) Isolation and characterisation of a 15 kb genomic sequence coding for part of the Proα2 chain of sheep type 1 collagen. J Biol Chem 255:3213–3220
Britten RJ, Davidson EH (1968) Repeated sequences in DNA. Science 161:529–540
De la Chapelle A, Miller OJ (1979) Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, 12, X and Y (Human Gene Mapping 5), Edinburgh 1979. Cytogenet Cell Genet 25: 47–58
Duncan C, Biro P, Choudary PV, Elder JT, Wong RRC, Forget BG, de Riel JK, Weissmann SM (1979) RNA polymerase III transcriptional units are interspersed among human non-α-globin genes. Proc Natl Acad Sci USA 76:5095–5099
Ferguson-Smith MA (1974) Techniques of human chromosome analysis. Ric Clin Lab IV:297–335
Fritsch EF, Lawn RM, Maniatis T (1980) Molecular cloning and characterisation of the human β-like globin gene cluster. Cell 19:959–972
Gorin MB, Tilghman SM (1980) Structure of the α fetoprotein gene in the mouse. Proc Natl Acad Sci USA 77:1351–1355
Gosden JR, Mitchell AR, Buckland RA, Clayton RF, Evans HJ (1975) The location of four human satellite DNAs on human chromosomes. Exp Cell Res 92:148–158
Hoeijmakers-van Dommelen HAM, Grosveld GC, de Boer E, Flavell RA, Varley JM, Jeffreys AJ (1980) Localisation of repetitive and unique DNA sequences neighbouring the rabbit β-globin genes. J Mol Biol 140:531–546
Houck CM, Rinchart FO, Schmid CW (1979) An ubiquitous family of repeated DNA sequences in the human genome. J Mol Biol 132:289–306
Jeffreys AJ, Flavell RA (1977) The rabbit β globin gene contains a large insert in the coding sequence. Cell 12:1097–1108
Jelinek WR, Toomey TP, Leinwand L, Duncan CH, Biro PA, Choudary PV, Weissman SM, Rubin CM, Houck CM, Deininger PL, Schmid CW (1980) Ubiquitous, interspersed repeated sequences in mammalian genomes. Proc Natl Acad Sci USA 77:1398–1402
Jones KW (1974) The method of in situ hybridisation. In: Pain RH, Smith BJ (eds) New techniques in biophysics and cell biology. John Wiley and Sons. New York, p 29
Katz L, Kingsbury OT, Helinski DR (1976) Stimulation by cyclic adenosine monophosphate of plasmid deoxyribonucleic acid replication and catabolic repression of the plasmid DNA-protein relaxation complex. J Bacteriol 114:577–591
Kaufman RE, Kretschmer PJ, Adams JW, Coon HC, Anderson WF, Nienhuis AW (1980) Cloning and characterisation of DNA sequences surrounding the human γ-, δ-, and β-globin genes. Proc Natl Acad Sci USA 77:4229–4233
Lauer J, Shen CKJ, Maniatis T (1980) The chromosomal arrangement of human α-like globin genes; sequence homology and α-globin gene deletions. Cell 20:119–130
Lawn RM, Fritsch EF, Parker RC, Blake G, Maniatis T (1978) The isolation and characterisation of linked δ and β globin genes from a cloned library of human DNA. Cell 15:1157–1174
Malcolm S, Barten P, Murphy C, Williamson R, Ferguson-Smith MA (1981) Chromosomal location of a single cery gene by in situ hybridisation—human β globin genes an the short arm of chromosome 11. Ann Hum Genet 45:135–141
Maden EH, Reeder RH (1979) Partial mapping of methylated sequences in Xenopus laevis ribosomal RNA by preparative hybridisation to cloned fragments of ribosomal DNA. Nucleic Acids Res 6:817–830
Malcolm S, Williamson R, Boyd E, Ferguson-Smith MA (1977) A comparison of in situ hybridisation techniques for gene localisation. Cytogenet Cell Genet 19:256–261
Miklos GLG, John B (1979) Heterochromatin and satellite DNA in man; properties and prospects. Am J Hum Genet 31:264–280
Nunberg JH, Kaufman RJ, Chang ACY, Cohen SN, Schimke RT (1980) Structure and genomic organisation of the mouse dihydrofolate reductase gene. Cell 19:355–364
Paul J (1972) General theory of chromosome structure and gene activation in eukaryotes. Nature 238:444–446
Proudfoot NJ (1980) Pseudogenes. Nature 286:840–841
Rubin CM, Houck CM, Deininger PL, Friedmann T, Schmid CW (1980) Partial nucleotide sequence of the 300-nucleotide interspersed repeated human DNA sequences. Nature 284:372–374
Salmasi AM, Malcolm S, Elliott T, Williamson R, Ferguson-Smith MA (1980) Nucleolus organiser regions in familial extra metacentric human chromosomes. Heredity 44:63–68
Szabo P, Lee MR, Elder FB, Prensky W (1978) Localisation of 5 S RNA and rRNA genes in the Norway Rat. Chromosoma 65:161–172
Yamamoto KR, Alberts BM, Benzinger R, Cawthorne L, Treiber G (1970) Rapid bacteriophage sedimentation in the presence of polyethylene glycol and its application to large scale virus purification. Virology 40:734–744
Young BD, Hall A, Birnie GD (1976) A new estimate of human ribosomal gene number. Biochim Biophys Acta 454:539–548
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Malcolm, S., Barton, P. & Ferguson-Smith, M.A. The chromosomal distribution of repetitive DNA sequences within the human β globin gene cluster. Hum Genet 57, 388–393 (1981). https://doi.org/10.1007/BF00281691
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DOI: https://doi.org/10.1007/BF00281691