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

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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.

Original languageEnglish (US)
Pages (from-to)1393-1398
Number of pages6
JournalMolecular medicine reports
Volume12
Issue number1
DOIs
StatePublished - Jul 1 2015

Keywords

  • Melanosome
  • Membrane-associated transporter protein
  • Oculocutaneous albinism 4
  • Solute carrier family 45 member 2
  • Sucrose transporter

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