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 journalArticle

Abstract

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
JournalGenomics
Volume85
Issue number4
DOIs
Publication statusPublished - Apr 2005

Fingerprint

Netherton Syndrome
Genes
Epithelium
Chromosomes, Human, Pair 18
Skin
Serine Proteinase Inhibitors
Differentiation Antigens
3' Untranslated Regions
Keratinocytes
Epidermis
Proteins
Homeostasis
Messenger RNA

Keywords

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

ASJC Scopus subject areas

  • Genetics

Cite this

Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. / Galliano, Marie Florence; Roccasecca, Rosa Maria; Descargues, Pascal; Micheloni, Alessia; Levy, Elaine; Zambruno, Giovanna; D'Alessio, Marina; Hovnanian, Alain.

In: Genomics, Vol. 85, No. 4, 04.2005, p. 483-492.

Research output: Contribution to journalArticle

Galliano, MF, Roccasecca, RM, Descargues, P, Micheloni, A, Levy, E, Zambruno, G, D'Alessio, M & Hovnanian, A 2005, 'Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome', Genomics, vol. 85, no. 4, pp. 483-492. https://doi.org/10.1016/j.ygeno.2005.01.001
Galliano, Marie Florence ; Roccasecca, Rosa Maria ; Descargues, Pascal ; Micheloni, Alessia ; Levy, Elaine ; Zambruno, Giovanna ; D'Alessio, Marina ; Hovnanian, Alain. / Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. In: Genomics. 2005 ; Vol. 85, No. 4. pp. 483-492.
@article{9ee550d29abe439f8d52381ca1fae459,
title = "Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome",
abstract = "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.",
keywords = "Differentiation, Keratinocytes, LEKTI, Lymphoepithelial Kazal-type-related inhibitor, Netherton syndrome, Serine protease inhibitor, Spink5",
author = "Galliano, {Marie Florence} and Roccasecca, {Rosa Maria} and Pascal Descargues and Alessia Micheloni and Elaine Levy and Giovanna Zambruno and Marina D'Alessio and Alain Hovnanian",
year = "2005",
month = "4",
doi = "10.1016/j.ygeno.2005.01.001",
language = "English",
volume = "85",
pages = "483--492",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "4",

}

TY - JOUR

T1 - Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome

AU - Galliano, Marie Florence

AU - Roccasecca, Rosa Maria

AU - Descargues, Pascal

AU - Micheloni, Alessia

AU - Levy, Elaine

AU - Zambruno, Giovanna

AU - D'Alessio, Marina

AU - Hovnanian, Alain

PY - 2005/4

Y1 - 2005/4

N2 - 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.

AB - 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.

KW - Differentiation

KW - Keratinocytes

KW - LEKTI

KW - Lymphoepithelial Kazal-type-related inhibitor

KW - Netherton syndrome

KW - Serine protease inhibitor

KW - Spink5

UR - http://www.scopus.com/inward/record.url?scp=15244356622&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=15244356622&partnerID=8YFLogxK

U2 - 10.1016/j.ygeno.2005.01.001

DO - 10.1016/j.ygeno.2005.01.001

M3 - Article

C2 - 15780751

AN - SCOPUS:15244356622

VL - 85

SP - 483

EP - 492

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 4

ER -