The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
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Download: BIB_CAB4765ADCFE.P001.pdf (676.79 [Ko])
State: Public
Version: Final published version
State: Public
Version: Final published version
Serval ID
serval:BIB_CAB4765ADCFE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Journal
PLoS ONE
ISSN
1932-6203
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
3
Number
11
Pages
e3642
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Abstract
BACKGROUND: Zinc (Zn) is an essential trace element and it is abundant in connective tissues, however biological roles of Zn and its transporters in those tissues and cells remain unknown. METHODOLOGY/PRINCIPAL FINDINGS: Here we report that mice deficient in Zn transporter Slc39a13/Zip13 show changes in bone, teeth and connective tissue reminiscent of the clinical spectrum of human Ehlers-Danlos syndrome (EDS). The Slc39a13 knockout (Slc39a13-KO) mice show defects in the maturation of osteoblasts, chondrocytes, odontoblasts, and fibroblasts. In the corresponding tissues and cells, impairment in bone morphogenic protein (BMP) and TGF-beta signaling were observed. Homozygosity for a SLC39A13 loss of function mutation was detected in sibs affected by a unique variant of EDS that recapitulates the phenotype observed in Slc39a13-KO mice. CONCLUSIONS/SIGNIFICANCE: Hence, our results reveal a crucial role of SLC39A13/ZIP13 in connective tissue development at least in part due to its involvement in the BMP/TGF-beta signaling pathways. The Slc39a13-KO mouse represents a novel animal model linking zinc metabolism, BMP/TGF-beta signaling and connective tissue dysfunction.
Keywords
Adolescent, Amino Acid Sequence, Animals, Bone Morphogenetic Proteins, Cation Transport Proteins, Cells, Cultured, Connective Tissue, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Humans, Mice, Mice, Knockout, Models, Biological, Molecular Sequence Data, Morphogenesis, Osteogenesis, Pedigree, Sequence Homology, Amino Acid, Signal Transduction, Transforming Growth Factor beta, Young Adult, Zinc
Pubmed
Web of science
Open Access
Yes
Create date
27/01/2009 16:55
Last modification date
20/08/2019 16:45