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Fragments of human genomic DNA corresponding to the promoter region of the gene for the transferrin receptor have been cloned upstream of the bacterial gene for chloramphenicol acetyltransferase and these constructs used to assess promoter activity following transfection into a human rhabdomyosarcoma cell line. Progressive 5' deletions as well as internal linker-substitution constructs support a critical role in gene expression of a sequence element approximately 70 bp upstream of the mRNA start site. In this region, the receptor gene was found to contain 11bp that are identical to a segment of the enhancers of polyoma virus and adenovirus. A fragment encompassing this element was shown to increase gene expression when the fragment was placed in either orientation upstream of the remainder of the transferrin receptor promoter but the same fragment did not activate an enhancer-less SV40 promoter. Removal from within the receptor promoter of three potential binding sites for the transcription factor Sp1 did not decrease the promoter's activity.

Deletional analysis of the promoter region of the human transferrin receptor gene