title: Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.
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.
authors.affiliation: Department of Medical Genetics, University of Pécs, József A.u. 7, 7623 Pécs, Hungary. richard.kellermayer@aok.pte.hu
authors.forename: Richard
authors.initials: R
authors.lastname: Kellermayer
mesh_terms: D000252:Calcium-Transporting ATPases / Q000235:genetics*; D006801:Humans; D018832:Molecular Chaperones; D009154:Mutation; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D012441:Saccharomyces cerevisiae / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics*
chemical_list: D018832:Molecular Chaperones; C101767:SSC1 protein, S cerevisiae; D029701:Saccharomyces cerevisiae Proteins; D000252:Calcium-Transporting ATPases