ArticleHuman mutation2010
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 32 citations in OpenAlex.
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- Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression.Molecular genetics and genomics : MGG · 2020Article
- Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4.Oncogene · 2018Article
- Discovering Single Nucleotide Polymorphisms Regulating Human Gene Expression Using Allele Specific Expression from RNA-seq Data.Genetics · 2016Article
- On the relationship between an Asian haplotype on chromosome 6 that reduces androstenone levels in boars and the differential expression of SULT2A1 in the testis.BMC genetics · 2014Article
- Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex.Schizophrenia research · 2014Article
- Novel associations of UDP-glucuronosyltransferase 2B gene variants with prostate cancer risk in a multiethnic study.BMC cancer · 2013Article
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- The use of allelic imbalance to ascertain cis-regulation for human UGT2B7 in vivo.European journal of clinical pharmacology · 2013Article
- Research progress in allele-specific expression and its regulatory mechanisms.Journal of applied genetics · 2013Review
- SNP discovery, expression and cis-regulatory variation in the UGT2B genes.The pharmacogenomics journal · 2012Article
- Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry.International journal of cancer · 2012Article
- A polymorphism associated with depressive disorders differentially regulates brain derived neurotrophic factor promoter IV activity.Biological psychiatry · 2012Article
- The impact of cis-acting polymorphisms on the human phenotype.The HUGO journal · 2011Article
- Maintaining Breast Cancer Specimen Integrity and Individual or Simultaneous Extraction of Quality DNA, RNA, and Proteins from Allprotect-Stabilized and Nonstabilized Tissue Samples.Biopreservation and biobanking · 2011Article
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- Functional characterization of liver enhancers that regulate drug-associated transporters.Clinical pharmacology and therapeutics · 2011Article
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5 authors at 1 institution in 1 country.
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Abstract
Allelic imbalance (AI) is a powerful tool to identify cis-regulatory variation for gene expression. UGT2B15 is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In this study, we measured the relative expression of two alleles at this gene by using SNP rs1902023:G>T. An excess of the G over the T allele was consistently observed in liver (P<0.001), but not in breast (P=0.06) samples, suggesting that SNPs in strong linkage disequilibrium with G253T regulate UGT2B15 expression in liver. Seven such SNPs were identified by resequencing the promoter and exon 1, which define two distinct haplotypes. Reporter gene assays confirmed that one haplotype displayed approximately 20% higher promoter activity compared to the other major haplotype in liver HepG2 (P<0.001), but not in breast MCF-7 (P=0.540) cells. Reporter gene assays with additional constructs pointed to rs34010522:G>T and rs35513228:C>T as the cis-regulatory variants; both SNPs were also evaluated in LNCaP and Caco-2 cells. By ChIP, we showed that the transcription factor Nrf2 binds to the region spanning rs34010522:G>T in all four cell lines. Our results provide a good example for how AI can be used to identify cis-regulatory variation and gain insights into the tissue specific regulation of gene expression.
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