Open AccessMicroconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
Author(s) -
Rogério Santiago Araújo,
Berenice B. Mendonça,
Angela Silva Barbosa,
Chin Jia Lin,
José Antônio Miguel Marcondes,
Ana Elisa C. Billerbeck,
Tânia A.S.S. Bachega
Publication year - 2007
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2006-2163
Subject(s) - promoter , pseudogene , genetics , biology , microbiology and biotechnology , mutant , mutation , allele , gene , compound heterozygosity , context (archaeology) , 21 hydroxylase , regulatory sequence , loss of heterozygosity , regulation of gene expression , gene expression , paleontology , genome
Most mutations causing 21-hydroxylase deficiency originate from microconversions between CYP21 pseudogenes and active genes. However, around 20% of the alleles in the nonclassical form (NC-21OHD) remain without identified mutations, suggesting the involvement of regulatory regions. The pseudogene promoter is 80% less active than the CYP21A2 due to the presence of -126C>T, -113G>A, -110T>C, and -103A>G mutations. Additionally, mutations in the steroidogenic factor-1 binding sites of the CYP21 distal regulatory region, located at 4676 bases upstream from the cap site of the CYP21A2 gene, decrease its transcription to 35%.
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