Mutation in Mpzl3, a gene encoding a predicted the adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities

Tongyu Cao, Peter Racz, Kornelia M. Szauter, Gergely Groma, Garrett Y. Nakamatsu, Benjamin Fogelgren, E. Pankotai, Qing Ping He, Katalin Csiszar

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The rough coat (rc), an autosomal-recessive mutation, arose spontaneously in C57BL/6J mice. Homozygous rc mice develop severe skin and hair abnormalities, including cyclic and progressive hair loss and sebaceous gland hypertrophy. The rc locus was previously mapped to Chromosome 9. To elucidate the genetic basis underlying the rc phenotype development, we carried out positional cloning, and mapped the rc locus to a 246-kb interval. We identified a missense mutation within a novel open reading frame in the rc/rc mice, which is predicted to encode a cell adhesion molecule with the highest homology to myelin protein zero (MPZ) and myelin protein zero-like 2 (MPZL2, also called epithelial V-like antigen). We therefore named this gene Mpzl3 (myelin protein zero-like 3). The mutation in the rc/rc mice occurred at a highly conserved residue within the conserved Ig-like V-type domain, thus likely altering the MPZL3 protein function. Reverse transcriptase-PCR and Western blot analyses revealed expression of the Mpzl3 gene in various adult organs, including the skin. Using indirect immunofluorescence, we detected MPZL3 protein in the keratinocytes and sebocytes in the skin. Results from this study identified a novel gene encoding a predicted adhesion protein whose mutation in the rc/rc mice likely caused the rc phenotype.

Original languageEnglish
Pages (from-to)1375-1386
Number of pages12
JournalJournal of Investigative Dermatology
Volume127
Issue number6
DOIs
Publication statusPublished - Jun 2007

Fingerprint

Myelin P0 Protein
Skin Abnormalities
Gene encoding
Hair
Skin
Adhesion
Mutation
Genes
Proteins
Phenotype
Sebaceous Glands
Chromosomes, Human, Pair 9
Cloning
RNA-Directed DNA Polymerase
Alopecia
Cell Adhesion Molecules
Missense Mutation
Indirect Fluorescent Antibody Technique
Chromosomes
Reverse Transcriptase Polymerase Chain Reaction

ASJC Scopus subject areas

  • Dermatology

Cite this

Mutation in Mpzl3, a gene encoding a predicted the adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities. / Cao, Tongyu; Racz, Peter; Szauter, Kornelia M.; Groma, Gergely; Nakamatsu, Garrett Y.; Fogelgren, Benjamin; Pankotai, E.; He, Qing Ping; Csiszar, Katalin.

In: Journal of Investigative Dermatology, Vol. 127, No. 6, 06.2007, p. 1375-1386.

Research output: Contribution to journalArticle

Cao, Tongyu ; Racz, Peter ; Szauter, Kornelia M. ; Groma, Gergely ; Nakamatsu, Garrett Y. ; Fogelgren, Benjamin ; Pankotai, E. ; He, Qing Ping ; Csiszar, Katalin. / Mutation in Mpzl3, a gene encoding a predicted the adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities. In: Journal of Investigative Dermatology. 2007 ; Vol. 127, No. 6. pp. 1375-1386.
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abstract = "The rough coat (rc), an autosomal-recessive mutation, arose spontaneously in C57BL/6J mice. Homozygous rc mice develop severe skin and hair abnormalities, including cyclic and progressive hair loss and sebaceous gland hypertrophy. The rc locus was previously mapped to Chromosome 9. To elucidate the genetic basis underlying the rc phenotype development, we carried out positional cloning, and mapped the rc locus to a 246-kb interval. We identified a missense mutation within a novel open reading frame in the rc/rc mice, which is predicted to encode a cell adhesion molecule with the highest homology to myelin protein zero (MPZ) and myelin protein zero-like 2 (MPZL2, also called epithelial V-like antigen). We therefore named this gene Mpzl3 (myelin protein zero-like 3). The mutation in the rc/rc mice occurred at a highly conserved residue within the conserved Ig-like V-type domain, thus likely altering the MPZL3 protein function. Reverse transcriptase-PCR and Western blot analyses revealed expression of the Mpzl3 gene in various adult organs, including the skin. Using indirect immunofluorescence, we detected MPZL3 protein in the keratinocytes and sebocytes in the skin. Results from this study identified a novel gene encoding a predicted adhesion protein whose mutation in the rc/rc mice likely caused the rc phenotype.",
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