Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.
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.
Kellermayer
Richard
R
Department of Medical Genetics, University of Pécs, József A.u. 7, 7623 Pécs, Hungary. richard.kellermayer@aok.pte.hu
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*
D018832:Molecular Chaperones; C101767:SSC1 protein, S cerevisiae; D029701:Saccharomyces cerevisiae Proteins; D000252:Calcium-Transporting ATPases