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izvor podataka: crosbi

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 (CROSBI ID 201806)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Zariwala, M.A. ; ... ; Lovrić, S. ; ... ; Sertić, Jadranka ; ... ; Hildebrandt, F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 // American journal of human genetics, 93 (2013), 2; 336-345. doi: 10.1016/j.ajhg.2013.06.007

Podaci o odgovornosti

Zariwala, M.A. ; ... ; Lovrić, S. ; ... ; Sertić, Jadranka ; ... ; Hildebrandt, F.

engleski

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain ZMYND10 and LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 colocalize with the centriole markers SAS6 and PCM1. Mutations in ZMYND10 result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between ZMYND10 and human PCD, given that zmynd10 knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in Xenopus interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function.

primary ciliary dyskinesia; ZMYND10; LRRC6

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

93 (2)

2013.

336-345

objavljeno

0002-9297

10.1016/j.ajhg.2013.06.007

Povezanost rada

nije evidentirano

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