Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control.
Breast Neoplasms
/ genetics
Cell Cycle Proteins
/ genetics
DNA-Binding Proteins
/ genetics
Estrogen Receptor alpha
/ genetics
Estrogen Receptor beta
/ genetics
Female
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Genome-Wide Association Study
HeLa Cells
Hepatocyte Nuclear Factor 3-alpha
/ genetics
Histone Chaperones
/ genetics
Humans
MCF-7 Cells
Nuclear Proteins
/ genetics
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Protein Serine-Threonine Kinases
/ genetics
Receptors, Steroid
/ genetics
White People
/ genetics
Breast cancer
candidate genes
cis-regulatory effects
functional analysis
promoter variants
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 02 2019
28 02 2019
Historique:
received:
19
12
2018
revised:
09
02
2019
accepted:
21
02
2019
entrez:
3
3
2019
pubmed:
3
3
2019
medline:
3
3
2019
Statut:
epublish
Résumé
Genetic variants affecting the regulation of gene expression are among the main causes of human diversity. The potential importance of regulatory polymorphisms is underscored by results from Genome Wide Association Studies, which have already implicated such polymorphisms in the susceptibility to complex diseases such as breast cancer. In this study, we re-sequenced the promoter regions of 24 genes involved in pathways related to breast cancer including sex steroid action, DNA repair, and cell cycle control in 60 unrelated Caucasian individuals. We constructed haplotypes and assessed the functional impact of promoter variants using gene reporter assays and electrophoretic mobility shift assays. We identified putative functional variants within the promoter regions of estrogen receptor 1 (
Identifiants
pubmed: 30823486
pii: genes10030186
doi: 10.3390/genes10030186
pmc: PMC6470759
pii:
doi:
Substances chimiques
Cell Cycle Proteins
0
DNA-Binding Proteins
0
ESR1 protein, human
0
ESR2 protein, human
0
Estrogen Receptor alpha
0
Estrogen Receptor beta
0
FOXA1 protein, human
0
Hepatocyte Nuclear Factor 3-alpha
0
Histone Chaperones
0
Nuclear Proteins
0
Receptors, Steroid
0
UIMC1 protein, human
0
CDC7 protein, human
EC 2.7.1.-
Protein Serine-Threonine Kinases
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : CIHR
ID : 019511
Pays : Canada
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest and the funding sponsors had no role in the design of the study, in the collection, analyses, or interpretation of data; in the writing of the manuscript, and in the decision to publish the results.
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