title: The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss.
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 immune-mediated human hereditary disorders with hair loss.
authors.forename: Peter
authors.initials: P
authors.lastname: Racz
authors.forename: Matyas
authors.initials: M
authors.lastname: Mink
authors.forename: Anita
authors.initials: A
authors.lastname: Ordas
authors.forename: Tongyu
authors.initials: T
authors.lastname: Cao
authors.forename: Sandor
authors.initials: S
authors.lastname: Szalma
authors.forename: Kornelia M
authors.initials: KM
authors.lastname: Szauter
authors.forename: Katalin
authors.initials: K
authors.lastname: Csiszar
mesh_terms: D000505:Alopecia / Q000235:genetics* / Q000276:immunology*; D000595:Amino Acid Sequence; D000818:Animals; D002448:Cell Adhesion / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004195:Disease Models, Animal; D006579:Heterozygote; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C084779:Hivep3 protein, mouse; D008565:Membrane Proteins; C542811:Mpzl3 protein, human; C520409:Mpzl3 protein, mouse