The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes
作者： Dominique Gauguier , Brigitte Lelongt , Zeineb Bakey , Marie-Thérèse Bihoreau , Rémi Piedagnel
DOI: 10.1038/KI.2015.122
关键词:
摘要: 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, caused by mutation (R823W) SAM domain encoded protein. Recent studies support etiological role ANKS6 human cystic diseases, but its function remains unknown. To investigate cyst formation, we screened an archive N-ethyl-N-nitrosourea-treated mice derived strain carrying missense (I747N) within ANKS6. This only amino acids away from PKD-causing cy/+ rats. Evidence renal cysts these confirmed crucial function. Comparative phenotype analysis rats our Anks6(I747N) further showed that two models display noticeably different PKD phenotypes there defective interaction between with ANKS3 BICC1 (bicaudal C homolog 1) mouse. Thus, data demonstrate importance structure integrity essential mediating formation protein complexes.
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