首页   按字顺浏览 期刊浏览 卷期浏览 Genomic organization of theUGT2bgene cluster on human chromosome 4q13
Genomic organization of theUGT2bgene cluster on human chromosome 4q13

 

作者: Michael Riedy,   Jian-Ying Wang,   Andrew Miller,   Alan Buckler,   Jeff Hall,   Marco Guida,  

 

期刊: Pharmacogenetics  (OVID Available online 2000)
卷期: Volume 10, issue 3  

页码: 251-260

 

ISSN:0960-314X

 

年代: 2000

 

出版商: OVID

 

关键词: UDP-glucuronosyltransferase;pseudogene;polymorphism;SNP

 

数据来源: OVID

 

摘要:

The UDP-glucuronosyltransferases (UGTs) comprise a large family of proteins capable of detoxifying a wide variety of both endogenous and exogenous substrates. The primary function of this gene superfamily is to catalyze the glycosylation of substrates such as biogenic amines, steroids, bile acids, phenolic compounds and various other pharmacologically relevant compounds, including numerous carcinogens, toxic environmental pollutants and prescription drugs. This conjugation increases the solubility of these compounds, allowing them to be excreted more readily through hepatic or renal mechanisms. This paper describes the genomic characterization and chromosomal localization of threeUGT2Bgenes which together comprise part of a large cluster of related sequences, including pseudogenes found on human chromosome 4q13. A genomic map spanning approximately 500-1000 kb of this region reveals the presence of three previously describedUGT2Bgenes, at least two previously uncharacterized pseudogenes and a significant number of remnant gene fragments and placesUGT2B4betweenUGT2B7andUGT2B15.Additionally, access to a large reference DNA bank allowed us to calculate allele frequencies for twoUGT2BSNPs: D85R inUGT2B15and Q458D inUGT2B4amongst 803 unrelated individuals representing five ethnic populations. The data presented here suggest a recent evolutionary history of gene duplication, mutation and rearrangement. Furthermore, they suggest that a re-evaluation of the current description of theUGT2Bgene family with respect to the number of specific genes, degree of allelic diversity and molecular evolution may be necessary.

 



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