The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-[Beta] signaling pathways

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-β 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-β signaling pathways. The Slc39a13-KO mouse represents a novel animal model linking zinc metabolism, BMP/TGF-β signaling and connective tissue dysfunction

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch
• Anmerkungen: PLoS ONE. - 3, 11 (2008) , e3642, ISSN: 1932-6203

Beteiligte, Orts- und Zeitangaben

• Ereignis: Veröffentlichung
• (wo): Freiburg
• (wer): Universität
• (wann): 2019
• Urheber: Fukada, Toshiyuki ; Civic, Natacha ; Furuichi, Tatsuya ; Unger, Sheila ; Superti-Furga, Andrea ; Hirano, Toshio
• Beteiligte Personen und Organisationen: Institut für Humangenetik. Freiburg im Breisgau ; Klinik für Allgemeine Kinder- und Jugendmedizin

Weitere Informationen

• DOI: 10.1371/journal.pone.0003642
• URN: urn:nbn:de:bsz:25-freidok-756790
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 25.03.2025, 13:51 MEZ