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Journal of Investigative Dermatology
Article
License: Elsevier Non-Commercial
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Journal of Investigative Dermatology
Article . 2006
License: Elsevier Non-Commercial
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Journal of Investigative Dermatology
Article . 2006 . Peer-reviewed
License: Elsevier Non-Commercial
Data sources: Crossref
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SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing

Authors: Tartaglia-Polcini, Alessandro; Bonnart, Chrystelle; Micheloni, Alessia; Cianfarani, Francesca; Andrè, Alessandra; Zambruno, Giovanna; Hovnanian, Alain; +1 Authors

SPINK5, the Defective Gene in Netherton Syndrome, Encodes Multiple LEKTI Isoforms Derived from Alternative Pre-mRNA Processing

Abstract

The multidomain serine protease inhibitor lymphoepithelial Kazal-type related inhibitor (LEKTI) represents a key regulator of the proteolytic events occurring during epidermal barrier formation and hair development, as attested by the severe autosomal recessive ichthyosiform skin condition Netherton syndrome (NS) caused by mutations in its encoding gene, serine protease inhibitor Kazal-type 5 (SPINK5). Synthesized as a proprotein, LEKTI is rapidly cleaved intracellularly, thus generating a number of potentially bioactive fragments that are secreted. Here, we show that SPINK5 generates three classes of transcripts encoding three different LEKTI isoforms, which differ in their C-terminal portion. In addition to the previously described 15 domain isoform, SPINK5 encodes a shorter LEKTI isoform composed of only the first 13 domains, as well as a longer isoform carrying a 30-amino-acid residue insertion between the 13th and 14th inhibitory domains. We demonstrate that variable amounts of SPINK5 alternative transcripts are detected in all SPINK5 transcriptionally active tissues. Finally, we show that in differentiated cultured human keratinocytes all SPINK5 alternative transcripts are translated into protein and that the LEKTI precursors generate distinct secreted C-terminal proteolytic fragments from a similar cleavage site. Since several data indicate a biological role for the pro-LEKTI-cleaved polypeptides, we hypothesize that the alternative processing of the SPINK5 pre-messenger RNA represents an additional mechanism to further increase the structural and functional diversity of the LEKTI bioactive fragments.

Keywords

Keratinocytes, Transcription, Genetic, Molecular Sequence Data, Proteinase Inhibitory Proteins, Secretory, Ichthyosis, Cell Differentiation, Cell Biology, Dermatology, Syndrome, Biochemistry, Protein Biosynthesis, RNA Precursors, Humans, Protein Isoforms, Serine Peptidase Inhibitor Kazal-Type 5, Amino Acid Sequence, RNA, Messenger, Carrier Proteins, Molecular Biology, Cells, Cultured

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
31
Top 10%
Top 10%
Top 10%
hybrid