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From the
GTP cyclohydrolase I is the first and rate-limiting enzyme for
the biosynthesis of tetrahydrobiopterin in mammals. Previously, we
reported three species of human GTP cyclohydrolase I cDNA in a human
liver cDNA library (Togari, A., Ichinose, H., Matsumoto, S., Fujita,
K., and Nagatsu, T. (1992) Biochem. Biophys. Res. Commun. 187,
359-365). Furthermore, very recently, we found that the GTP
cyclohydrolase I gene is causative for hereditary progressive dystonia
with marked diurnal fluctuation, also known as DOPA-responsive dystonia
(Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M.,
Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., and Nagatsu,
T. (1994) Nature Genetics 8, 236-242). To clarify the
mechanisms that regulate transcription of the GTP cyclohydrolase I gene
and to generate multiple species of mRNA, we isolated genomic DNA
clones for the human and mouse GTP cyclohydrolase I genes. Structural
analysis of the isolated clones revealed that the GTP cyclohydrolase I
gene is encoded by a single copy gene and is composed of six exons
spanning
Volume 270,
Number 17,
Issue of April 28, pp. 10062-10071, 1995
©1995 by The American Society for Biochemistry and Molecular Biology, Inc.
MUTATIONS IN PATIENTS WITH GTP CYCLOHYDROLASE I DEFICIENCY
30 kilobases. We sequenced all exon/intron boundaries of
the human and mouse genes. Structural analysis also demonstrated that
the heterogeneity of GTP cyclohydrolase I mRNA is caused by an
alternative usage of the splicing acceptor site at the sixth exon. The
transcription start site of the mouse GTP cyclohydrolase I gene and the
5`-flanking sequences of the mouse and human genes were determined. We
performed regional mapping of the mouse gene by fluorescence in
situ hybridization, and the mouse GTP cyclohydrolase I gene was
assigned to region C2-3 of mouse chromosome 14. We identified missense
mutations in patients with GTP cyclohydrolase I deficiency and
expressed mutated enzymes in Escherichia coli to confirm
alterations in the enzyme activity.
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