Peltoketo H, Piao Y, Mannermaa A, Ponder B A, Isomaa V, Poutanen M, Winqvist R, Vihko R
Biocenter Oulu, Finland.
Genomics. 1994 Sep 1;23(1):250-2. doi: 10.1006/geno.1994.1487.
EDH17B2, the gene encoding 17 beta-hydroxysteroid dehydrogenase type 1, has been suggested as a candidate for the familial breast cancer gene, BRCA1, located on 17q12-q21. We analyzed the promoter region of EDH17B2 in DNA from 20 control individuals and 40 patients with familial breast cancer. Two frequent (designated vI and vIII) and two rare (vII and vIV) nucleotide variations were present in both the breast cancer patients and the controls, except the alteration vII, which was found only in one patient. Although the data do not support the identification of EDH17B2 as the BRCA1 gene, it is of interest that point mutation vIV (A-->C) was located in the putative TATA box of the EDH17B2 gene. Reporter gene analyses showed that the mutation vIV decreases EDH17B2 promoter activity by an average of 45% in in vitro assays, suggesting that nucleotide A at position -27 is significant for efficient transcription.
EDH17B2基因编码1型17β-羟基类固醇脱氢酶，它被认为是位于17q12 - q21的家族性乳腺癌基因BRCA1的一个候选基因。我们分析了20名对照个体和40名家族性乳腺癌患者DNA中EDH17B2的启动子区域。除了仅在一名患者中发现的变异vII外，乳腺癌患者和对照个体中均存在两种常见的（分别命名为vI和vIII）以及两种罕见的（vII和vIV）核苷酸变异。尽管这些数据不支持将EDH17B2鉴定为BRCA1基因，但有趣的是，点突变vIV（A→C）位于EDH17B2基因假定的TATA框中。报告基因分析表明，在体外实验中，突变vIV使EDH17B2启动子活性平均降低45%，这表明 - 27位的核苷酸A对有效转录具有重要意义。
