Loss of Mpzl3 function causes various skin abnormalities and greatly reduced adipose depots

Angel G. Leiva, Anne L. Chen, Priyadharshini Devarajan, Zhibin Chen, Shadi Damanpour, Jessica A. Hall, Antonio C. Bianco, Jie Li, Evangelos V. Badiavas, Julia Zaias, Mariya Miteva, Paolo Romanelli, Keyvan Nouri, Tongyu Cao Wikramanayake*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


The rough coat (rc) spontaneous mutation causes sebaceous gland (SG) hypertrophy, hair loss, and extracutaneous abnormalities including growth retardation. The rc mice have a missense mutation in the predicted Ig protein Myelin Protein Zero-Like 3 (Mpzl3). In this study, we generated Mpzl3 knockout mice to determine its functions in the skin. Homozygous Mpzl3 knockout mice showed unkempt and greasy hair coat and hair loss soon after birth. Histological analysis revealed severe SG hypertrophy and increased dermal thickness, but did not detect significant changes in the hair cycle. Mpzl3-null mice frequently developed inflammatory skin lesions; however, the early-onset skin abnormalities were not the result of immune defects. The abnormalities in the Mpzl3 knockout mice closely resemble those observed in rc/rc mice, and in mice heterozygous for both the rc and Mpzl3 knockout alleles, indicating that rc and Mpzl3 are allelic. Using a lacZ reporter gene, we detected Mpzl3 promoter activity in the companion layer and inner root sheath of the hair follicle, SG, and epidermis. Loss of MPZL3 function also caused a striking reduction in cutaneous and overall adipose tissue. These data reveal a complex role for Mpzl3 in the control of skin development, hair growth, and adipose cell functions.

Original languageEnglish (US)
Pages (from-to)1817-1827
Number of pages11
JournalJournal of Investigative Dermatology
Issue number7
StatePublished - Jul 2014
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology
  • Molecular Biology
  • Biochemistry
  • Cell Biology


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