Gene: [15q211/CYP19] cytochrome P450, subfamily XIX (aromatization of androgens); gynecomastia, familial (increased aromatase activity);
FUN | Aromatization of androgens. |
EXP | The transcription of CYP19 in different cell types is under the regulation of different promoters. Using several distinct CYP19 promoters and alternative splicing lead to the production of the same enzyme in all cells (Simpson-1997). Numerous untranslated first exons occur in aromatase transcripts in a tissue-specific fashion due to differential splicing as a consequence of the use of tissue-specific promoters. Thus, expression in the ovary uses a proximal promoter that is regulated primarily by cAMP. On the other hand, expression in the placenta uses a distal promoter located at least 40 kb upstream of the start of transcription that is regulated by retinoids. Other promoters are used in brain and adipose tissue. In the latter case, class I cytokines such as IL6 (GEM:07p21/IL6) and IL11 (GEM:19q13/IL11), as well as TNF-alpha (GEM:06p2133/TNFA), are important regulatory factors. A common 3-prime splice junction located upstream of the start of translation is used in all of the splicing events involved in the use of these various promoters. Thus, the coding region of the transcripts, and hence the protein, are identical regardless of the tissue site of expression; what differs in a tissue-specific fashion is the 5-prime end of the transcripts. This pattern of expression has great significance both from a phylogenetic and ontogenetic standpoint, as well as for the physiology and pathophysiology of estrogen formation." |
HIS | Chen-1988 suggested the existence of two CYP19 genes. |
REL | FAM:CYP/00.0. |
REF | PAT,PHE,MEB "Berkovitz
&: J Clin Invest, 75, 1763-1769, 1985 PRO,SEQ,LOC,MOL "Chen S &: DNA, 7, N1, 27-38, 1988 PEP,SEQ "Chen S &: BBRC, 135, 713-719, 1986 PRO,SEQ,EXP "Evans &: PNAS, 83, N17, 6387-6391, 1986 PAT,PHE,MEB "Hemsell &: J Clin Invest, 60, 455-464, 1977 EXP,TRC,MOP "Simpson ER &: FASEB J, 11, 29-36, 1997 SEQ "Simpson ER &: Mol Cell Endocrinol, 52, 267-272, 1987 LOC,MOL "Sparkes &: CCG, 46, (HGM9), 696-697, 1987 EXP,TIS,MEB "von Ziegler &: Neuroendocrinology, 55, N5, 512-518, 1992 REV,EXP "Whitlock JP: Annu Rev Pharm Toxicol, 26, 333-369, 1986 |
SWI | SWISSPROT: P11511 |
KEY | horm, sex, ster |
CLA | coding, basic |
LOC | 15 q21.1 |
MIM | MIM: 107910 |
EZN | ENZYME: 1.14.14.1 |
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