Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport

Wen Sen Lee, Rebecca G. Wells, Rachel V. Sabbag, T. K. Mohandas, Matthias A. Hediger

Research output: Contribution to journalArticle

110 Citations (Scopus)

Abstract

We have recently cloned, sequenced, and characterized a rat kidney cDNA (D2) that stimulates cystine as well as dibasic and neutral amino acid transport. In order to evaluate the role of this protein in human inherited diseases such as cystinuria, we have isolated a human D2 clone (D2H) by low stringency screening of a human kidney cDNA library using the radiolabeled D2 insert as a probe. The D2H cDNA is 2284 nucleotides long and encodes a 663 amino acid protein that is 80% identical to the rat D2 amino acid sequence and 86% to that of the rabbit homologue rBAT. Microinjection of in vitro transcribed D2H cRNA into Xenopus oocytes induced uptake of cystine as well as dibasic and neutral amino acids in a pattern similar to that of rat D2 and rabbit rBAT. Both neutral and dibasic amino acids inhibited the D2H-induced uptake of cystine. Northern blot analysis demonstrated that D2H, like D2 and rBAT, is expressed strongly in the kidney and intestine. Southern blot analysis of genomic DNA from a panel of mouse-human somatic cell hybrids showed that the human gene for D2H resides on chromosome 2.

Original languageEnglish
Pages (from-to)1959-1963
Number of pages5
JournalJournal of Clinical Investigation
Volume91
Issue number5
Publication statusPublished - May 1993
Externally publishedYes

    Fingerprint

Keywords

  • Amino acid transporter
  • Chromosome 2
  • Cystinuria
  • Hartnup disorder
  • High affinity transport

ASJC Scopus subject areas

  • Medicine(all)

Cite this