دورية أكاديمية
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
| العنوان: | ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 |
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| المساهمون: | College of Medicine, Dept. of Pharmacology, Maimoona A. Zariwala, Heon Yung Gee, Ma1gorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon D. Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julian Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney E. Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy C. Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, Sivakumar Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim Nielsen, Nicolaus Schwerk, Jadranka Sertic, Gabriele Ko짢hler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner-Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt, Gee, Heon Yung |
| بيانات النشر: | University of Chicago Press |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Animals, Autoantigens/genetics, Autoantigens/metabolism, Axonemal Dyneins/genetics, Axonemal Dyneins/metabolism, Biomarkers/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cilia/genetics, Cilia/metabolism, Cilia/pathology, Exome, Gene Expression Regulation, High-Throughput Nucleotide Sequencing, Humans, Kartagener Syndrome/genetics, Kartagener Syndrome/metabolism, Kartagener, Syndrome/pathology, Male, Microtubule-Associated Proteins/genetics, Microtubule-Associated Proteins/metabolism, Mutation, Pedigree, Protein Binding, Protein Structure, Tertiary, Proteins/genetics, Proteins/metabolism, Rats |
| الوصف: | 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. ; open |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0002-9297 1537-6605 |
| العلاقة: | AMERICAN JOURNAL OF HUMAN GENETICS; J00086; OAK-2013-03445; https://ir.ymlib.yonsei.ac.kr/handle/22282913/158489Test; T201306223; AMERICAN JOURNAL OF HUMAN GENETICS, Vol.93(2) : 336-345, 2013 |
| DOI: | 10.1016/j.ajhg.2013.06.007 |
| الإتاحة: | https://doi.org/10.1016/j.ajhg.2013.06.007Test https://ir.ymlib.yonsei.ac.kr/handle/22282913/158489Test |
| حقوق: | CC BY-NC-ND 2.0 KR ; https://creativecommons.org/licenses/by-nc-nd/2.0/krTest/ |
| رقم الانضمام: | edsbas.43CD10C7 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 00029297 15376605 |
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| DOI: | 10.1016/j.ajhg.2013.06.007 |