Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome

Marie Florence Galliano, Rosa Maria Roccasecca, Pascal Descargues, Alessia Micheloni, Elaine Levy, Giovanna Zambruno, Marina D'Alessio, Alain Hovnanian

Research output: Contribution to journalArticlepeer-review


The human SPINK5 gene, encoding the putative 15-domain serine protease inhibitor LEKTI, was identified as the defective gene in the severe autosomal recessive ichthyosiform skin disorder known as Netherton syndrome and as a candidate susceptibility gene for atopic disease. Here we report mapping of the murine Spink5 gene to chromosome 18 and its characterization. We show that, unlike in humans, transcription of the mouse Spink5 gene generates two mRNAs that differ in the 3′ untranslated region. The encoded protein, which is detected in differentiated primary cultured keratinocytes and mouse skin as an ∼130-kDa glycosylated precursor, displays ∼60% identity with its human counterpart but lacks the human LEKTI domain 6. As in the human, mouse Lekti represents a marker of epithelial differentiation, strongly expressed in the granular layer of the epidermis, in suprabasal layers of stratified epithelia, and in thymic Hassall's bodies. Our data indicate that mouse Spink5/Lekti, like its human counterpart, is involved in the control of epithelial tissue homeostasis, but also highlight specific features of the murine gene and protein.

Original languageEnglish
Pages (from-to)483-492
Number of pages10
Issue number4
Publication statusPublished - Apr 2005


  • Differentiation
  • Keratinocytes
  • Lymphoepithelial Kazal-type-related inhibitor
  • Netherton syndrome
  • Serine protease inhibitor
  • Spink5

ASJC Scopus subject areas

  • Genetics

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