UGT2B10 is an important metabolism enzyme in human body and its substrates include multiple amine-containing compounds, especially nicotine, tamoxifen and multiple antidepressants. Multiple common SNPs have been observed in its promoter region, but their role in expression regulation has never been investigated. In this preliminary study, we identified a novel cis-regulatory SNP, rs294775, for UGT2B10 by plasmid construction, mutagenesis, and luciferase assay, whose mechanism was also investigated. Our work provides a basis for further pharmacogenetics study.
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http://dx.doi.org/10.1111/1440-1681.12925 | DOI Listing |
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFDev Cell
December 2024
State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, College of Horticulture, Northwest A&F University, Yangling, China. Electronic address:
Natural variation is an invaluable genetic resource for plant trait improvement. Here, we performed a genome-wide association study (GWAS) analysis and identified MdHDG5, which controls apple leaf cuticular wax. An A-to-G single-nucleotide polymorphism (SNP) on the HDG5 promoter is associated with HDG5 expression and hexacosanol content (a component of leaf cuticular wax).
View Article and Find Full Text PDFSci Rep
October 2024
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si, 13620, Gyeonggi-do, Republic of Korea.
medRxiv
July 2024
Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
bioRxiv
June 2024
Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, US.
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