Nucleic Acids Research, Vol 26, Issue 8 1959-1964, Copyright © 1998 by Oxford University Press
KK Chin and SF Chang
CYP21 gene encodes the steroid 21-hydroxylase (P450c21) that is involved in
steroidogenesis in the adrenal cortex. Mutations occurring on CYP21 which
convert it to the neighboring pseudogene, CYP21P, are found in patients
with congenital adrenal hyperplasia (CAH), an autosomal recessive disease.
We previously reported that the CYP21P pseudogene had lower transcription
activity when compared with the active CYP21 gene. The sequences
determining the basal transcription activity of the human CYP21 gene are
located within the 166 bp region upstream from the transcriptional start
site. Within this region, only 4 nucleotides are different between the
active CYP21 and the CYP21P pseudogene; they are located at the -117, -104,
-101 and -94 positions from the start site of the gene. Here, we report
that the CYP21 gene- specific G nucleotide sequence at the -104 position is
required for its basal transcription activity driven by the native TATA box
of the human CYP21 gene. When this single nucleotide is changed to the
CYP21P sequence, the basal transcription activity decreases by
approximately 80% in transient transfection assay. In addition, our data
from gel retardation assay show that this sequence is also critical for
interaction with nuclear proteins from adrenal cells. These results
therefore suggest that the single G sequence of the human CYP21 gene is
crucial for the expression of its basal transcription activity, and this
may be influenced by the interaction with specific nuclear proteins from
the adrenal gland.
ARTICLES
The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction
Graduate Institute of Cell and Molecular Biology, Taipei Medical College, No. 250, Wu-Hsing Street, Taipei, Taiwan, Republic of China.
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