Bilirubin Genetics for the Nongeneticist: Hereditary Defects of Neonatal Bilirubin Conjugation
- 1 April 2003
- journal article
- review article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 111 (4) , 886-893
- https://doi.org/10.1542/peds.111.4.886
Abstract
The UGT 1A1 gene controls bilirubin conjugation by determining the structure of the enzyme glucuronosyltransferase, which is synthesized in the hepatocyte. Like any gene, UGT 1A1 consists of coding and noncoding areas (Fig 1). Of primary importance to the subsequent discussion is the exon, that portion of the DNA molecule which carries the genetic code. Separating the exons from each other are the introns, which are noncoding sequences of base pairs, and thus are not expressed in protein synthesis. An additional noncoding area of the gene is the promoter (bottom left of Fig 1, top of Fig 2), which is an upstream regulatory region controlling gene expression. The UGT promoter contains a TATAA box, which is a DNA sequence of …Keywords
This publication has 62 references indexed in Scilit:
- Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundiceActa Paediatrica, 2002
- Bile bilirubin pigment analysis in disorders of bilirubin metabolism in early infancyArchives of Disease in Childhood, 2001
- Hepatic uptake of organic anions affects the plasma bilirubin level in subjects with Gilbert's syndrome mutations in UGT1A1Hepatology, 2001
- Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in JapaneseJournal of Human Genetics, 1999
- Human Hepatocyte Transplantation: Gene Therapy and More?Pediatrics, 1998
- Gilbert syndrome caused by a homozygousmissense mutation (Tyr486Asp) of bilirubinUDP-glucuronosyltransferase geneThe Journal of Pediatrics, 1998
- Gene Therapy with Bilirubin-UDP-Glucuronosyltransferase in the Gunn Rat Model of Crigler-Najjar Syndrome Type 1Human Gene Therapy, 1998
- Genetic diseases of bilirubin metabolism: the inherited unconjugated hyperbilirubinemiasJournal of Hepatology, 1996
- Prevalence and lack of clinical significance of blood group incompatibility in mothers with blood type A or BThe Journal of Pediatrics, 1994
- CHRONIC UNCONJUGATED HYPERBILIRUBINEMIA WITHOUT OVERT SIGNS OF HEMOLYSIS IN ADOLESCENTS AND ADULTS*Journal of Clinical Investigation, 1962