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Related Experiment Videos

Human cystinuria-related transporter: localization and functional characterization.

K Mizoguchi1, S H Cha, A Chairoungdua

  • 1Department of Pharmacology and Toxicology, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.

Kidney International
|April 25, 2001
PubMed
Summary

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Human BAT1 (hBAT1) transporter is involved in cystinuria, an inherited kidney disorder. This study characterizes hBAT1, confirming its role in cystine transport in renal proximal tubules and linking it to nontype I cystinuria.

Area of Science:

  • Molecular biology
  • Renal physiology
  • Genetics

Background:

  • Cystinuria is an inherited renal tubule defect affecting cystine and basic amino acid transport.
  • Mutations in the BAT1/b(0,+)AT transporter are linked to nontype I cystinuria.
  • The function and localization of human BAT1 (hBAT1)/b(0,+)AT remain poorly understood.

Purpose of the Study:

  • To characterize the function and localization of the human BAT1 (hBAT1) transporter.
  • To confirm the role of hBAT1 in renal proximal tubule cystine transport.
  • To map the hBAT1 gene and investigate its association with cystinuria.

Main Methods:

  • Isolated hBAT1 cDNA from human kidney.
  • Mapped the hBAT1 gene using fluorescence in situ hybridization.

Related Experiment Videos

  • Analyzed tissue distribution and protein localization via Northern blot and immunohistochemistry.
  • Determined functional properties by transfecting hBAT1 and rBAT into COS-7 cells and measuring amino acid transport.
  • Investigated the role of protein kinase-dependent phosphorylation.

    • Main Results:

    • The hBAT1 gene was mapped to chromosome 19q12-13.1, the locus for nontype I cystinuria.
    • hBAT1 expression was predominant in the kidney, with protein localized to the apical membrane of proximal tubules.
    • Co-expression of hBAT1 with rBAT in COS-7 cells demonstrated b(0,+) amino acid transport activity, including cystine, via substrate exchange.
    • hBAT1-mediated transport was modulated by protein kinase A and tyrosine kinase activity.

    Conclusions:

    • hBAT1 functions as a high-affinity cystine transporter in renal proximal tubules.
    • The hBAT1 gene's location confirms its involvement in nontype I cystinuria.
    • This study elucidates the molecular basis of cystinuria related to hBAT1.