Status: Bibliographieeintrag
Standort: ---
Exemplare:
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| Online-Ressource |
Verfasst von: | Bakey, Zeineb [VerfasserIn]  |
| Hoffmann, Sigrid [VerfasserIn]  |
Titel: | The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes |
Verf.angabe: | Zeineb Bakey, Marie-Thérèse Bihoreau, Rémi Piedagnel, Laure Delestré, Catherine Arnould, Alexandre d'Hotman de Villiers, Olivier Devuyst, Sigrid Hoffmann, Pierre Ronco, Dominique Gauguier and Brigitte Lelongt |
E-Jahr: | 2015 |
Jahr: | 3 June 2015 |
Umfang: | 12 S. |
Fussnoten: | Gesehen am 13.02.2018 |
Titel Quelle: | Enthalten in: Kidney international |
Ort Quelle: | New York, NY : Elsevier, 1972 |
Jahr Quelle: | 2015 |
Band/Heft Quelle: | 88(2015), 2, Seite 299-310 |
ISSN Quelle: | 1523-1755 |
Abstract: | The ankyrin repeat and sterile α motif (SAM) domain-containing six gene (Anks6) is a candidate for polycystic kidney disease (PKD). Originally identified in the PKD/Mhm(cy/+) rat model of PKD, the disease is caused by a mutation (R823W) in the SAM domain of the encoded protein. Recent studies support the etiological role of the ANKS6 SAM domain in human cystic diseases, but its function in kidney remains unknown. To investigate the role of ANKS6 in cyst formation, we screened an archive of N-ethyl-N-nitrosourea-treated mice and derived a strain carrying a missense mutation (I747N) within the SAM domain of ANKS6. This mutation is only six amino acids away from the PKD-causing mutation (R823W) in cy/+ rats. Evidence of renal cysts in these mice confirmed the crucial role of the SAM domain of ANKS6 in kidney function. Comparative phenotype analysis in cy/+ rats and our Anks6(I747N) mice further showed that the two models display noticeably different PKD phenotypes and that there is a defective interaction between ANKS6 with ANKS3 in the rat and between ANKS6 and BICC1 (bicaudal C homolog 1) in the mouse. Thus, our data demonstrate the importance of ANKS6 for kidney structure integrity and the essential mediating role of its SAM domain in the formation of protein complexes. |
DOI: | doi:10.1038/ki.2015.122 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: http://dx.doi.org/10.1038/ki.2015.122 |
| Volltext: http://www.sciencedirect.com/science/article/pii/S2157171615321663 |
| DOI: https://doi.org/10.1038/ki.2015.122 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | ADPKD |
| genetic kidney disease |
| renal pathology |
K10plus-PPN: | 1569775168 |
Verknüpfungen: | → Zeitschrift |
¬The¬ SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes / Bakey, Zeineb [VerfasserIn]; 3 June 2015 (Online-Ressource)
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