| Autor: |
Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, Shinji Shimoda, Kenji Mishima, Hiroyuki Higashiyama, Yayoi Idaira, Yoshinobu Asada, Hiroshi Kitamura, Satoru Yamasaki, Shintaro Hojyo, Manabu Nakayama, Osamu Ohara, Haruhiko Koseki, Heloisa G Dos Santos, Luisa Bonafe, Russia Ha-Vinh, Andreas Zankl, Sheila Unger, Marius E Kraenzlin, Jacques S Beckmann, Ichiro Saito, Carlo Rivolta, Shiro Ikegawa, Andrea Superti-Furga, Toshio Hirano |
| Jazyk: |
angličtina |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
PLoS ONE, Vol 3, Iss 11, p e3642 (2008) |
| Druh dokumentu: |
article |
| ISSN: |
1932-6203 |
| DOI: |
10.1371/journal.pone.0003642 |
| Popis: |
BackgroundZinc (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 findingsHere 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/significanceHence, 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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