Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 102, Issue 44, Pages 15977-15982Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0508310102
Keywords
epidermal development; genetics; IKK1; stratifin; Er
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Repeated-epilation (Er) mutation in the mouse is inherited as an autosomal and semidominant mutation. Major defects in heterozygous adults and homozygous fetuses were associated with skin and were caused by abnormal ectodermal differentiation. Heterozygous mice are characterized by repeated hair loss and regrowth, and homozygous fetuses die at birth with severe abnormality in skin, limb, tail, and face. To identify the gene causing Er mutation, we have performed gene-expression profiles of skins and mouse embryonic fibroblasts from WT and mutant Er mice by using Affymetrix (Santa Clara, CA) chip analysis. By analyzing the candidate genes generated from gene-expression profiling, we identified a Sfn mutation in Er mice. A single nucleotide insertion in the Sfn (Stratifin, also called 14-3-3 sigma) coding region results in a truncated protein lacking 40 amino acid residues at the C terminus. The mutation is linked with phenotypes of Er-heterozygous and -homozygous mice. Ectopic overexpression of WT 14-3-3 sigma in Er/Er keratinocytes rescues defects in keratinocyte differentiation. Our study demonstrates that 14-3-3 sigma is a crucial regulator for skin proliferation and differentiation.
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