Proximal promoter of the cytochrome P450 oxidoreductase gene: Identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 11, 2011, Pages

  Soneda, Shun ^a,b   Yazawa, Takashi ^c   Fukami, Maki ^a   Adachi, Masanori ^d   Mizota, Michiyo ^e   Fujieda, Kenji ^f   Miyamoto, Kaoru ^c   Ogata, Tsutomu ^a,g  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e KAGOSHIMA UNIVERSITY   (Japan)

^f ASAHIKAWA MEDICAL COLLEGE   (Japan)

^g HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 REDUCTASE; DNA; LUCIFERASE; TRANSCRIPTION FACTOR SP1;

ALLELE; ARTICLE; BINDING SITE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER MODEL; CONTROLLED STUDY; DNA BINDING; DNA METHYLATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; P450 OXIDOREDUCTASE DEFICIENCY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SEQUENCE ANALYSIS;

ANTLEY-BIXLER SYNDROME PHENOTYPE; BASE SEQUENCE; BINDING SITES; EXONS; HUMANS; NADPH-FERRIHEMOPROTEIN REDUCTASE; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION; SP1 TRANSCRIPTION FACTOR;

EID: 80655134827     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-1337     Document Type: Article

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