Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization

PLoS One. 2012;7(11):e49920. doi: 10.1371/journal.pone.0049920. Epub 2012 Nov 26.

Abstract

CCHCR1 (Coiled-Coil α-Helical Rod protein 1), within the major psoriasis susceptibility locus PSORS1, is a plausible candidate gene with the psoriasis associated risk allele CCHCR1*WWCC. Although its expression pattern in psoriatic skin differs from healthy skin and its overexpression influences cell proliferation in transgenic mice, its role as a psoriasis effector gene has remained unsettled. The 5'-region of the gene contains a SNP (rs3130453) that controls a 5'-extended open reading frame and thus the translation of alternative isoforms. We have now compared the function of two CCHCR1 isoforms: the novel longer isoform 1 and the previously studied isoform 3. In samples of Finnish and Swedish families, the allele generating only isoform 3 shows association with psoriasis (P<10(-7)). Both isoforms localize at the centrosome, a cell organelle playing a role in cell division. In stably transfected cells the isoform 3 affects cell proliferation and with the CCHCR1*WWCC allele, also apoptosis. Furthermore, cells overexpressing CCHCR1 show isoform- and haplotype-specific influences in the cell size and shape and alterations in the organization and expression of the cytoskeletal proteins actin, vimentin, and cytokeratins. The isoform 1 with the non-risk allele induces the expression of keratin 17, a hallmark for psoriasis; the silencing of CCHCR1 reduces its expression in HEK293 cells. CCHCR1 also regulates EGF-induced STAT3 activation in an isoform-specific manner: the tyrosine phosphorylation of STAT3 is disturbed in isoform 3-transfected cells. The centrosomal localization of CCHCR1 provides a connection to the abnormal cell proliferation and offers a link to possible cellular pathways altered in psoriasis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alternative Splicing
  • Apoptosis / genetics
  • Cell Line
  • Cell Proliferation
  • Centrosome / metabolism*
  • Cloning, Molecular
  • Cytoskeleton / genetics
  • Cytoskeleton / metabolism
  • Epidermal Growth Factor / pharmacology
  • ErbB Receptors / metabolism
  • Gene Expression
  • Gene Order
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism*
  • Phosphorylation / drug effects
  • Polymorphism, Single Nucleotide
  • Protein Isoforms
  • Protein Transport
  • Psoriasis / genetics*
  • Psoriasis / metabolism*
  • STAT3 Transcription Factor / metabolism
  • Signal Transduction

Substances

  • CCHCR1 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Protein Isoforms
  • STAT3 Transcription Factor
  • Epidermal Growth Factor
  • ErbB Receptors

Grants and funding

This study was supported by Academy of Finland (grant no. 130360; no. 1255560), Finska Läkaresällskapet, Helsinki University Research Funds, Sigrid Jusélius Foundation, Helsinki University Hospital Research Funds (TYH2009233), Swedish Research Council and Swedish Governmental Agency for Innovation Systems Vinnova. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.