Correct reading frame helps to properly identify<i>ATP2C1</i>gene mutations vs. polymorphisms

Micaroni, Massimo

doi:10.1111/ced.12836

Clin Exp Dermatol

2016

DOI: 10.1111/ced.12836

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Correct reading frame helps to properly identifyATP2C1gene mutations vs. polymorphisms

Massimo Micaroni

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2016

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“…Both BC028139.1 and AF181120.1 are present in GenBank, therefore both mutation locations appear to be correct, according to the different versions of the ATP2C1 mRNA sequence. As described by Micaroni, 853A>C and 2048G>A seem to be the same as 661A>C and 1854G>A, which shifts them 192 and 194 bp upstream, respectively …”

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Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update

Luo

Liu

2016

Clin Exp Dermatol

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“…We read with interest the comment from Micaroni about our previous paper in Clinical and Experimental Dermatology on the clinical and molecular findings in Chinese families with Hailey–Hailey disease. We believe the difference in mutation positions described by us and Micaroni are due to different versions of the ATP2C1 mRNA sequence used.…”

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Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update

Luo

Liu

2016

Clin Exp Dermatol

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ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

et al. 2016

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ATP2C1 gene codes for the secretory pathway Ca2+/Mn2+-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey–Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.

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Correct reading frame helps to properly identifyATP2C1gene mutations vs. polymorphisms

Cited by 2 publications

References 3 publications

Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update

Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease: an update

ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

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