Silent Nucleotide Substitution in the Sterol 27-Hydroxylase Gene (CYP 27) Leads to Alternative Pre-mRNA Splicing by Activating a Cryptic 5‘ Splice Site at the Mutant Codon in Cerebrotendinous Xanthomatosis Patients

A functionally silent nucleotide substitution of the sterol 27-hydroxylase gene (CYP 27), identified in two families with cerebrotendinous xanthomatosis (CTX), was confirmed to cause alternative pre-mRNA splicing of the gene. Full-length RT-PCR analysis of the CYP 27 gene in a patient from one of th...

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Veröffentlicht in:	Biochemistry (Easton) 1998-03, Vol.37 (13), p.4420-4428
Hauptverfasser:	Chen, Wengen, Kubota, Shunichiro, Teramoto, Tamio, Nishimura, Yukiko, Yonemoto, Kyozo, Seyama, Yousuke
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Base Sequence Cholestanetriol 26-Monooxygenase Codon - genetics Cytochrome P-450 Enzyme System - genetics DNA Mutational Analysis Humans Mutation Pedigree Polymerase Chain Reaction RNA Precursors - genetics RNA, Messenger - genetics Steroid Hydroxylases - genetics Xanthomatosis, Cerebrotendinous - enzymology Xanthomatosis, Cerebrotendinous - genetics
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