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

Biochemistry

Volumn 37, Issue 13, 1998, Pages 4420-4428

  Chen, Wengen ^a   Kubota, Shunichiro ^a   Teramoto, Tamio ^b   Nishimura, Yukiko ^a   Yonemoto, Kyozo ^c   Seyama, Yousuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b TEIKYO UNIVERSITY   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; COMPLEMENTARY DNA; GUANINE; MESSENGER RNA PRECURSOR; NUCLEOTIDE; STEROID 21 MONOOXYGENASE; THYMINE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CELL STRAIN COS1; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SILENT GENE;

ALTERNATIVE SPLICING; BASE SEQUENCE; CODON; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA PRECURSORS; RNA, MESSENGER; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

UNIDENTIFIED BACTERIOPHAGE;

EID: 0032584276     PISSN: 00062960     EISSN: None     Source Type: Journal    
DOI: 10.1021/bi972940a     Document Type: Article

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