Nucleic Acids Research, 1985, Vol. 13, No. 21 7781-7793
© 1985
Articles |
DNA sequences regulating human ß globin gene expression
Columbia University, College of Physicians and Surgeons, Department of Medicine, and Department of Human Genetics and Development New York, NY, USA
*To whom correspondence should be addressed at Columbia University, HHSC 1602, 701 West 168th Street, New York, NY 10032, USA
Received May 27, 1985. Revised October 2, 1985. Accepted October 2, 1985.
Human 
globin is expressed at approximately 1–2% of the level of human ß globin in erythroid cells despite the marked homology between these two globins. To determine the DNA sequences responsible for this effect, and ß globin genes and fusion products of these genes constructed in vitro were transfected and expressed in HeLa cells. The results indicate that when the small intervening sequence of the ß gene (ß IVS 1) is replaced by ß IVS 1, expression of the chimeric gene is the same as that of the normal ß globin gene. By contrast, when the large intervening sequence of the ß gene (ß IVS 2) is replaced by IVS 2, expression of the chimeric gene is markedly reduced. These results suggest that there are signals within IVS 2 of the and ß genes which affect their relative expression.