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Title: A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17{beta}-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro

Abstract

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 {yields} C) was located in the putative TATA box of the EDH17B2 gene. Reporter gene analysis 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. 12 refs., 2 figs., 1 tab.

Authors:
; ;  [1]
  1. Univ. of Oulu (Finland); and others
Publication Date:
OSTI Identifier:
186072
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 23; Journal Issue: 1; Other Information: PBD: 1 Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 17; GENETIC MAPPING; GENES; GENE MUTATIONS; TRANSCRIPTION; DETECTION; NUCLEOTIDES; GENETIC VARIABILITY; OXIDOREDUCTASES; MAMMARY GLANDS; NEOPLASMS; PATIENTS; HEREDITARY DISEASES; BIOASSAY

Citation Formats

Peltoketo, H, Piao, Y, and Isomaa, V. A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17{beta}-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro. United States: N. p., 1994. Web. doi:10.1006/geno.1994.1487.
Peltoketo, H, Piao, Y, & Isomaa, V. A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17{beta}-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro. United States. https://doi.org/10.1006/geno.1994.1487
Peltoketo, H, Piao, Y, and Isomaa, V. Thu . "A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17{beta}-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro". United States. https://doi.org/10.1006/geno.1994.1487.
@article{osti_186072,
title = {A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17{beta}-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro},
author = {Peltoketo, H and Piao, Y and Isomaa, V},
abstractNote = {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 {yields} C) was located in the putative TATA box of the EDH17B2 gene. Reporter gene analysis 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. 12 refs., 2 figs., 1 tab.},
doi = {10.1006/geno.1994.1487},
url = {https://www.osti.gov/biblio/186072}, journal = {Genomics},
number = 1,
volume = 23,
place = {United States},
year = {1994},
month = {9}
}