Premium
Hailey–Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae
Author(s) -
Kellermayer Richard
Publication year - 2005
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2005.03.003
Subject(s) - hailey–hailey disease , saccharomyces cerevisiae , haploinsufficiency , gene , genetics , model organism , biology , genome , mutation , phenotype , immunology , pemphigus
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 pmr1 Δ S. 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.