Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome

Human Genetics
Yoshihiro MaruoYoshihiro Takeuchi

Abstract

Gilbert syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The mutation, A(TA)7TAA, is thought to be the sole cause of the syndrome in Caucasians, but an enhancer polymorphism (T-3279G) that lowers transcriptional activity has recently been reported. We have tested the linkage of the two mutations in 11 Caucasians and 12 Japanese patients who were homozygous for A(TA)7TAA. All 23 patients were also homozygous for T-3279G, indicating that T-3279G and A(TA)7TAA were linked. The decrease in transcription caused by both mutations together may be essential to the syndrome.

References

Nov 2, 1995·The New England Journal of Medicine·P J BosmaR P Oude Elferink
Jul 8, 1998·Proceedings of the National Academy of Sciences of the United States of America·E BeutlerA Demina
Mar 22, 2002·Biochemical and Biophysical Research Communications·Junko SugataniMasao Miwa

❮ Previous
Next ❯

Citations

Sep 25, 2010·European Journal of Clinical Pharmacology·Jung-Woo BaeSeok-Yong Lee
Jan 21, 2006·Pharmacogenetics and Genomics·Jacqueline RamírezStephen C Strom
Feb 4, 2006·Journal of Pediatric Gastroenterology and Nutrition·Yoshihiro MaruoYoshihiro Takeuchi
Jul 22, 2006·Transplantation·Junichi KanekoMasatoshi Makuuchi
Jun 10, 2010·BMC Gastroenterology·Katsuyuki MatsuiYoshihiro Takeuchi
Mar 22, 2014·The Journal of Pediatrics·Yoshihiro MaruoYoshihiro Takeuchi
Apr 23, 2014·The Journal of Pediatrics·Philip Rosenthal
Apr 26, 2011·BMC Medical Genetics·Neil A HanchardDennis J O'Kane
Apr 25, 2007·Scandinavian Journal of Gastroenterology·Yeon Seok SeoHo Sang Ryu
Sep 30, 2008·Drug Metabolism Reviews·Young-Mi AhSang Geon Kim
Feb 14, 2012·Blood Cells, Molecules & Diseases·Carina RodriguesElsa Bronze-da-Rocha
Mar 5, 2009·Best Practice & Research. Clinical Gastroenterology·Frédéric Di Fiore, Eric Van Cutsem
Sep 16, 2008·Experimental Gerontology·Arno LingenhelFlorian Kronenberg
Feb 12, 2009·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Tomasz RomanowskiKrzysztof Piotr Bielawski
Nov 16, 2006·Liver International : Official Journal of the International Association for the Study of the Liver·Milan JirsaLibor Vitek
Jun 3, 2016·American Journal of Human Biology : the Official Journal of the Human Biology Council·Christine SimonnetMathieu Nacher
Dec 22, 2009·Seminars in Fetal & Neonatal Medicine·Jon F Watchko, Zhili Lin
Apr 12, 2013·The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi·Min Jae LeeHye Jin Kang
Jan 15, 2015·Pediatric Gastroenterology, Hepatology & Nutrition·Jae Hee Lee, Kyung Rye Moon
Feb 8, 2011·Journal of Pediatric Gastroenterology and Nutrition·Yoshihiro MaruoYoshihiro Takeuchi
Jun 30, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Hugo GirardChantal Guillemette
Oct 7, 2010·The Korean Journal of Hepatology·Hee Jung LeeYoung Jae Eu
Apr 1, 2008·Journal of Pediatric Gastroenterology and Nutrition·Yoshihiro MaruoYoshihiro Takeuchi

❮ Previous
Next ❯

Related Concepts

Related Feeds

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.