The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss

Peter Racz, Matyas Mink, Anita Ordas, Tongyu Cao, Sandor Szalma, Kornelia M. Szauter, Katalin Csiszar

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We have recently reported a mutation within the conserved immunoglobulin V-type domain of the predicted adhesion protein Mpzl3 (MIM 611707) in rough coat (rc) mice with severe skin abnormalities and progressive cyclic hair loss. In this study, we tested the hypothesis that the human orthologue MPZL3 on chromosome 11q23.3 is a candidate for similar symptoms in humans. The predicted conserved MPZL3 protein has two transmembrane motifs flanking an extracellular Ig-like domain. The R100Q rc mutation is within the Ig-domain recognition loop that has roles in T-cell receptors and cell adhesion. Results of the rc mouse study, 3D structure predictions, homology with Myelin Protein Zero and EVA1, comprehensive database analyses of polymorphisms and mutations within the human MPZL3 gene and its cell, tissue expression and immunostaining pattern indicate that homozygous or compound heterozygous mutations of MPZL3 might be involved in immunemediated human hereditary disorders with hair loss.

Original languageEnglish (US)
Pages (from-to)261-263
Number of pages3
JournalExperimental dermatology
Volume18
Issue number3
DOIs
StatePublished - Apr 20 2009

Keywords

  • Alopecia
  • Immunoglobulin V-type domain
  • MPZL3
  • Rc mice

ASJC Scopus subject areas

  • Dermatology
  • Molecular Biology
  • Biochemistry

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