Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model

  • Authors:
    • Anke Reinders
    • John M. Ward
  • View Affiliations

  • Published online on: March 10, 2015     https://doi.org/10.3892/mmr.2015.3462
  • Pages: 1393-1398
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Abstract

Solute carrier family 45 member 2 encodes the melanosomal membrane protein, membrane‑associated transporter protein (MATP), of unknown function, that is required for normal melanin synthesis. The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations. Corresponding mutations were produced in the related and well‑characterized sucrose transporter from rice, OsSUT1, and transport activity was measured by heterologous expression in Xenopus laevis oocytes, in addition to 14C‑sucrose uptake in yeast. The mutation corresponding to D93N resulted in a complete loss of transport activity. The mutation corresponding to L374F resulted in a 90% decrease in transport activity, although the substrate affinity was unaffected. The results indicated that the D93N mutation causes OCA4 as a result of loss of MATP transport activity, and that the F374 allele confers significantly lower transport activity than L374.
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July-2015
Volume 12 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Reinders A and Reinders A: Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model. Mol Med Rep 12: 1393-1398, 2015
APA
Reinders, A., & Reinders, A. (2015). Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model. Molecular Medicine Reports, 12, 1393-1398. https://doi.org/10.3892/mmr.2015.3462
MLA
Reinders, A., Ward, J. M."Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model". Molecular Medicine Reports 12.1 (2015): 1393-1398.
Chicago
Reinders, A., Ward, J. M."Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model". Molecular Medicine Reports 12, no. 1 (2015): 1393-1398. https://doi.org/10.3892/mmr.2015.3462