Differential allelic expression of c.1568C>A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR

Gene

Volumn 481, Issue 1, 2011, Pages 24-28

  Sun, Chang ^a   Southard, Catherine ^a   Olopade, Olufunmilayo I ^a   Di Rienzo, Anna ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

3' Untranslated region; Cis regulation; Differential allelic expression; Gene expression; UGT2B15

Indexed keywords

GLUCURONOSYLTRANSFERASE; MICRORNA; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY POLYPEPTIDE B15; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ARTICLE; CELL LINE; CONTROLLED STUDY; GENE ASSIGNMENT; GENE EXPRESSION; GENE REGULATORY NETWORK; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RNA BINDING; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; ALLELIC IMBALANCE; BREAST; CELL LINE; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE EXPRESSION; GENOTYPE; GLUCURONOSYLTRANSFERASE; HUMANS; LINKAGE DISEQUILIBRIUM; LIVER; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REGULATORY ELEMENTS, TRANSCRIPTIONAL;

EID: 79957633053     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.04.001     Document Type: Article

References (49)

1. Abelson J.F., et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005, 310:317-320.
2. Bartel D.P. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 2004, 116:281-297.
3. Belanger A., Pelletier G., Labrie F., Barbier O., Chouinard S. Inactivation of androgens by UDP-glucuronosyltransferase enzymes in humans. Trends Endocrinol. Metab. 2003, 14:473-479.
4. Bray N.J., O'Donovan M.C. Investigating cis-acting regulatory variation using assays of relative allelic expression. Psychiatr. Genet. 2006, 16:173-177.
5. Bushati N., Cohen S.M. microRNA functions. Annu. Rev. Cell Dev. Biol. 2007, 23:175-205.
6. Chang T.C., Mendell J.T. microRNAs in vertebrate physiology and human disease. Annu. Rev. Genomics Hum. Genet. 2007, 8:215-239.
7. Chen F., Ritter J.K., Wang M.G., McBride O.W., Lubet R.A., Owens I.S. Characterization of a cloned human dihydrotestosterone/androstanediol UDP-glucuronosyltransferase and its comparison to other steroid isoforms. Biochemistry 1993, 32:10648-10657.
8. Chen J., et al. A functional variant in the 3'-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211. Hum. Mol. Genet. 2010, 19:2524-2533.
9. Clop A., et al. A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nat. Genet. 2006, 38:813-818.
10. Court M.H., et al. UDP-glucuronosyltransferase (UGT) 2B15 pharmacogenetics: UGT2B15 D85Y genotype and gender are major determinants of oxazepam glucuronidation by human liver. J. Pharmacol. Exp. Ther. 2004, 310:656-665.
11. Desai A.A., Innocenti F., Ratain M.J. UGT pharmacogenomics: implications for cancer risk and cancer therapeutics. Pharmacogenetics 2003, 13:517-523.
12. Esquela-Kerscher A., Slack F.J. Oncomirs-microRNAs with a role in cancer. Nat. Rev. Cancer 2006, 6:259-269.
13. Filipowicz W., Bhattacharyya S.N., Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight?. Nat. Rev. Genet. 2008, 9:102-114.
14. Flynt A.S., Lai E.C. Biological principles of microRNA-mediated regulation: shared themes amid diversity. Nat. Rev. Genet. 2008, 9:831-842.
15. Gardner-Stephen D.A., Mackenzie P.I. Liver-enriched transcription factors and their role in regulating UDP glucuronosyltransferase gene expression. Curr. Drug Metab. 2008, 9:439-452.
16. Ghildiyal M., Zamore P.D. Small silencing RNAs: an expanding universe. Nat. Rev. Genet. 2009, 10:94-108.
17. Guillemette C. Pharmacogenomics of human UDP-glucuronosyltransferase enzymes. Pharmacogenomics J. 2003, 3:136-158.
18. Hajdinjak T., Zagradisnik B. Prostate cancer and polymorphism D85Y in gene for dihydrotestosterone degrading enzyme UGT2B15: frequency of DD homozygotes increases with Gleason Score. Prostate 2004, 59:436-439.
19. Huang W., Li M.D. Differential allelic expression of dopamine D1 receptor gene (DRD1) is modulated by microRNA miR-504. Biol. Psychiatry 2009, 65:702-705.
20. Iida A., et al. Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8. J. Hum. Genet. 2002, 47:505-510.
21. Jakobsson J., et al. Genetic aspects of epitestosterone formation and androgen disposition: influence of polymorphisms in CYP17 and UGT2B enzymes. Pharmacogenet. Genomics 2008, 18:477-485.
22. King C.D., Rios G.R., Green M.D., Tephly T.R. UDP-glucuronosyltransferases. Curr. Drug Metab. 2000, 1:143-161.
23. Kloosterman W.P., Plasterk R.H. The diverse functions of microRNAs in animal development and disease. Dev. Cell 2006, 11:441-450.
24. Lewis B.P., Burge C.B., Bartel D.P. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 2005, 120:15-20.
25. Mackenzie P.I., et al. Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. Pharmacogenet. Genomics 2005, 15:677-685.
26. MacLeod S.L., Nowell S., Plaxco J., Lang N.P. An allele-specific polymerase chain reaction method for the determination of the D85Y polymorphism in the human UDP-glucuronosyltransferase 2B15 gene in a case-control study of prostate cancer. Ann. Surg. Oncol. 2000, 7:777-782.
27. Maruo Y., Iwai M., Mori A., Sato H., Takeuchi Y. Polymorphism of UDP-glucuronosyltransferase and drug metabolism. Curr. Drug Metab. 2005, 6:91-99.
28. Mathews D.H., Sabina J., Zuker M., Turner D.H. Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J. Mol. Biol. 1999, 288:911-940.
29. Nackley A.G., et al. Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science 2006, 314:1930-1933.
30. Nagar S., Remmel R.P. Uridine diphosphoglucuronosyltransferase pharmacogenetics and cancer. Oncogene 2006, 25:1659-1672.
31. Nakamura A., Nakajima M., Yamanaka H., Fujiwara R., Yokoi T. Expression of UGT1A and UGT2B mRNA in human normal tissues and various cell lines. Drug Metab. Dispos. 2008, 36:1461-1464.
32. Ohno S., Nakajin S. Determination of mRNA expression of human UDP-glucuronosyltransferases and application for localization in various human tissues by real-time reverse transcriptase-polymerase chain reaction. Drug Metab. Dispos. 2009, 37:32-40.
33. Park J., et al. Asp85tyr polymorphism in the udp-glucuronosyltransferase (UGT) 2B15 gene and the risk of prostate cancer. J. Urol. 2004, 171:2484-2488.
34. Pastinen T., Hudson T.J. Cis-acting regulatory variation in the human genome. Science 2004, 306:647-650.
35. Rusinov V., Baev V., Minkov I.N., Tabler M. MicroInspector: a web tool for detection of miRNA binding sites in an RNA sequence. Nucleic Acids Res. 2005, 33:W696-W700.
36. Simon D., et al. A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum. Mol. Genet. 2010, 19:2015-2027.
37. Sparks R., et al. UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients. Breast Cancer Res. 2004, 6:R488-R498.
38. Stamatoyannopoulos J.A. The genomics of gene expression. Genomics 2004, 84:449-457.
39. Stephens M., Sloan J.S., Robertson P.D., Scheet P., Nickerson D.A. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat. Genet. 2006, 38:375-381.
40. Sun C., Southard C., Witonsky D.B., Olopade O.I., Di Rienzo A. Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum. Mutat. 2010, 31:99-107.
41. Sun, C., et al., in press. SNP discovery, expression, and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. doi:10.1038/tpj.2011.2.
42. Tan Z., et al. Allele-specific targeting of microRNAs to HLA-G and risk of asthma. Am. J. Hum. Genet. 2007, 81:829-834.
43. Tukey R.H., Strassburg C.P. Human UDP-glucuronosyltransferases: metabolism, expression, and disease. Annu. Rev. Pharmacol. Toxicol. 2000, 40:581-616.
44. Turgeon D., Carrier J.S., Levesque E., Beatty B.G., Belanger A., Hum D.W. Isolation and characterization of the human UGT2B15 gene, localized within a cluster of UGT2B genes and pseudogenes on chromosome 4. J. Mol. Biol. 2000, 295:489-504.
45. Turgeon D., Carrier J.S., Levesque E., Hum D.W., Belanger A. Relative enzymatic activity, protein stability, and tissue distribution of human steroid-metabolizing UGT2B subfamily members. Endocrinology 2001, 142:778-787.
46. Weir B.S., Cockerham C.C. Estimating F-statistics for the analysis of population structure. Evolution 1984, 38:1358-1370.
47. Wright S. Genetical structure of populations. Nature 1950, 166:247-249.
48. Yan H., Zhou W. Allelic variations in gene expression. Curr. Opin. Oncol. 2004, 16:39-43.
49. Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 2003, 31:3406-3415.