Luu-The V, Labrie C, Simard J, Lachance Y, Zhao H F, Couët J, Leblanc G, Labrie F
Medical Research Council Group in Molecular Endocrinology, Laval University Medical Centre, Québec, Canada.
Mol Endocrinol. 1990 Feb;4(2):268-75. doi: 10.1210/mend-4-2-268.
Two human 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) genes (h17 beta-HSDI and h17 beta-HSDII) included in tandem within an approximately 13 kilobase pair fragment were isolated from a genomic lambda EMBL3 DNA library using cDNA encoding human 17 beta-HSD (hpE2DH216) as probe. We have determined the complete exon and intron sequences of the two genes as well as their 5' and 3'-flanking regions. Human 17 beta-HSDII contains six exons and five short introns for a total length of 3250 base pairs. The exon sequence of h17 beta-HSDII is identical to the previously reported hpE2DH216 cDNA while the overlapping nucleotide sequences of the corresponding exons and introns of h17 beta-HSDI and h17 beta-HSDII show 89% homology. In addition, we have used the hpE2DH216 cDNA to demonstrate the widespread expression of 17 beta-HSD mRNAs in steroidogenic and peripheral target tissues. These new findings provide the basis for a better understanding of the molecular mechanisms involved in 17 beta-HSD deficiency and peripheral sex steroid metabolism.
从基因组λEMBL3 DNA文库中，以编码人17β-羟基类固醇脱氢酶（hpE2DH216）的cDNA为探针，分离出两个串联在一个约13千碱基对片段中的人17β-羟基类固醇脱氢酶（17β-HSD）基因（h17β-HSDI和h17β-HSDII）。我们已经确定了这两个基因的完整外显子和内含子序列以及它们的5'和3'侧翼区域。人17β-HSDII包含六个外显子和五个短内含子，全长3250个碱基对。h17β-HSDII的外显子序列与先前报道的hpE2DH216 cDNA相同，而h17β-HSDI和h17β-HSDII相应外显子和内含子的重叠核苷酸序列显示出89%的同源性。此外，我们已经使用hpE2DH216 cDNA来证明17β-HSD mRNA在类固醇生成和外周靶组织中的广泛表达。这些新发现为更好地理解17β-HSD缺乏和外周性类固醇代谢所涉及的分子机制提供了基础。
