Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae |
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Authors: | Kellermayer Richard |
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Affiliation: | Department of Medical Genetics, University of Pécs, József A.u. 7, 7623 Pécs, Hungary. richard.kellermayer@aok.pte.hu |
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Abstract: | The term orthodisease has recently been introduced to define human disorders in which the pathogenic gene has orthologs in model organism genomes. Here, we describe Hailey-Hailey disease (HHD), a blistering skin disorder caused by haploinsufficiency of ATP2C1 as an orthodisease from a Saccharomyces cerevisiae perspective. ATP2C1 encodes the human secretory pathway Ca(2+)/Mn(2+) ATPase hSPCA1 and is orthologous to the PMR1 gene in S. cerevisiae. hSPCA1 fully complements PMR1 deficiency in yeast and pmr1DeltaS. cerevisiae has proved to be a valuable tool to screen ATP2C1 mutations and address potential pathogenic/pharmacologic mechanisms in HHD. Consequently, this human skin disorder is an ideal example of an orthodisease. |
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Keywords: | Hailey-Hailey disease Ortholog PMR1 hSPCA1 ATP2C1 Saccharomyces |
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