title: [Functional analysis of +11G > A single nucleotide polymorphisms in intron 3 of human urate transporter 1 gene].
abstract: OBJECTIVE
  We reported previously that single nucleotide polymorphisms (SNP) +11G >A in intron 3 of the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese. The aim of the present study was to evaluate the effect of the variants on hURAT1 function.
  
  
  METHODS
  The wild-type, mutant-type hURAT1 and exon 5-null hURAT1 were constructed, and respectively microinjected into the zebrafish embryo yolks. The subcellular localization of different genotypes of hURAT1 was detected by confocal laser scanning microscope.
  
  
  RESULTS
  Compared with wild type, the mutant recombinant plasmid transcribed two types of mRNA spliceosome, the wild type and the exon 5-null type. The hURAT1 wild type protein was prominent localized on cell membrane, while the mutant type and exon 5-null hURAT1 proteins were distributed uniform in the cytoplasm but not on the cell membrane.
  
  
  CONCLUSIONS
  The hURAT1 variant +11G>A resulted in an alternative splicing of hURAT1 mRNA- exon 5-null type. Its protein product exhibited a different subcellular localization compared with that of wild type.
authors.affiliation: Key Laboratory of Gout Disease, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Lu
authors.affiliation: Key Laboratory of Gout Disease, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China.
authors.forename: Can
authors.initials: C
authors.lastname: Wang
authors.affiliation: Key Laboratory of Gout Disease, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Key Laboratory of Gout Disease, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China.
authors.forename: Changgui
authors.initials: C
authors.lastname: Li
authors.affiliation: Key Laboratory of Gout Disease, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China. Email: cuillqd@163.com.
authors.forename: Lingling
authors.initials: L
authors.lastname: Cui
mesh_terms: D044466:Asian People; D005091:Exons; D005838:Genotype; D006801:Humans; D033461:Hyperuricemia; D007438:Introns; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; C103862:urate transporter