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Nucleic Acids Research, 1980, Vol. 8, No. 19 4393-4404
© 1980

MOLECULAR BIOLOGY

The 5' flanking region of human {varepsilon}-globin gene

Francisco E. Baralle1,*, Carol C. Shoulders1, Steven Goodbourn2, Alec Jeffreys3 and Nicholas J. Proudfoot4

1MRC Laboratory of Molecular Biology Hills Road, Cambridge 2MRC Unit for Molecular Haematology, John Radcliffe Hospital Oxford 3Department of Genetics, University of Leicester UK 4Division of Biology, California Institute of Technology Pasadena, CA 91125, USA

Received July 25, 1980.

The structural analysis of the 2.0 kb region upstream from the {varepsilon}-globin gene has been carried out. A genomic DNA map around the gene was worked out in some detail to ensure that the cloned DNA was representative of the actual chromosomal arrangement. Furthermore, a new technique was developed to precisely map a reiterated DNA sequence present 1.5 kb to the 5' side of the gene. The complete nucleotide sequence of the 2.0 kb 5' flanking region was then determined and overlapped with the gene. The sequence included the reiterated DNA sequence which is homologous to the so-called AluI family of repeats. Unusual stretches of sequence 50 nucleotides long, where A + T represent about 90% of the bases, are present at both the 5' and 3' sides of the repeat.

*Present address: Sir William Dunn School of Pathology, South Parks Road, Oxford OX1 3RE, UK


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