ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Zariwala, Maimoona A.; Gee, Heon Yung; Kurkowiak, Małgorzata; Al-Mutairi, Dalal A.; Leigh, Margaret W.; Hurd, Toby W.; Hjeij, Rim; Dell, Sharon D.; Chaki, Moumita; Dougherty, Gerard W.; Adan, Mohamed; Spear, Philip C.; Esteve-Rudd, Julián; Loges, Niki T.; Rosenfeld, Margaret; Diaz, Katrina A.; Olbrich, Heike; Wolf, Whitney E.; Sheridan, Eamonn; Batten, Trevor; Halbritter, Jan; Porath, Jonathan D.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw Yang; Pittman, Jessica E.; Burns, Kimberlie A.; Ferkol, Thomas; Sagel, Scott D.; Olivier, Kenneth N.; Morgan, Lucy; Werner, Claudius; Raidt, Johanna; Pennekamp, Petra; Sun, Zhaoxia; Zhou, Weibin; Airik, Rannar; Natarajan, S.; Allen, Susan J.; Amirav, Israel; Wieczorek, Dagmar; Landwehr, Kerstin; Nielsen, Kim G.; Schwerk, Nicolaus; Sertić, Jadranka; Köhler, Gabriele; Washburn, Joseph; Levy, Shawn; Fan, Shuling; Koerner-Rettberg, Cordula; Amselem, Serge; Williams, David S.; Mitchell, Brian J.; Drummond, Iain A.; Otto, Edgar A.; Omran, Heymut; Knowles, Michael R.; Hildebrandt, Friedhelm

doi:10.1016/j.ajhg.2013.06.007

Cited by 182 publications

(160 citation statements)

References 32 publications

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“…This group includes DNAAF1/LRRC50, DNAAF2/KTU, DNAAF3/PF22, DNAAF4/DYX1C1, LRRC6, SPAG1 and ZMYND10 [22]–[31], [33]. While Chlamydomonas have only one outer arm dynein species comprised of a single complex of three dynein heavy chains (DHCs) with several intermediate and light chains [81], human studies suggest two types of double-headed HC ODA complexes vary in their composition along motile axonemes [78].…”

Section: Resultsmentioning

confidence: 99%

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

et al. 2014

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Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In humans, defects specifically affecting motile cilia lead to chronic airway infections, infertility and laterality defects in the genetically heterogeneous disorder Primary Ciliary Dyskinesia (PCD). Using the comparatively simple Drosophila system, in which mechanosensory neurons possess modified motile cilia, we employed a recently elucidated cilia transcriptional RFX-FOX code to identify novel PCD candidate genes. Here, we report characterization of CG31320/HEATR2, which plays a conserved critical role in forming the axonemal dynein arms required for ciliary motility in both flies and humans. Inner and outer arm dyneins are absent from axonemes of CG31320 mutant flies and from PCD individuals with a novel splice-acceptor HEATR2 mutation. Functional conservation of closely arranged RFX-FOX binding sites upstream of HEATR2 orthologues may drive higher cytoplasmic expression of HEATR2 during early motile ciliogenesis. Immunoprecipitation reveals HEATR2 interacts with DNAI2, but not HSP70 or HSP90, distinguishing it from the client/chaperone functions described for other cytoplasmic proteins required for dynein arm assembly such as DNAAF1-4. These data implicate CG31320/HEATR2 in a growing intracellular pre-assembly and transport network that is necessary to deliver functional dynein machinery to the ciliary compartment for integration into the motile axoneme.

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Section: Resultsmentioning

confidence: 99%

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

et al. 2014

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“…Co-IP experiments were performed as described previously (55). Briefly, cell lysates were precleared with protein G or A beads.…”

Section: Methodsmentioning

confidence: 99%

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

Rao¹,

Ashraf²,

Tan³

et al. 2017

Journal of Clinical Investigation

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“…The identification of genes involved in cytoplasmic assembly of cilia (HEATR2, DNAAF1, DNAAF2, DNAAF3, DYX1C1, CCDC103, LRRC6, ZMYND10, SPAG1, ARMC4 and C21orf59) has provided clear insights into this process [81,[85][86][87][88][89][90][91][92][93][94][95]. Defects in the assembly line can result in ODA or ODA/IDA defects.…”

Section: Genetics: Pcd Is Generally An Autosomal Recessive Disease Tmentioning

confidence: 99%

Diagnostic Methods in Primary Ciliary Dyskinesia

Lucas

Paff

Goggin

et al. 2016

Paediatric Respiratory Reviews

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Educational Aims; The reader will be able to; Describe the basis of the various diagnostic tests for PCD  Have an understanding of the strengths and limitations of each test  Understand that there is no 'gold standard' test  Understand why highly specialised centres should analyse samples and interpret results. Page 2 of 36A c c e p t e d M a n u s c r i p t  SummaryDiagnosing primary ciliary dyskinesia is difficult. With no reference standard, a combination of tests is needed; most tests require expensive equipment and specialist scientists. We review the advances in diagnostic testing over the past hundred years, with emphasis on recent advances.We particularly focus on use of high-speed video analysis, transmission electron microscopy, nasal nitric oxide and genetic testing. We discuss the international efforts that are in place to advance the evidence base for diagnostic tests.

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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Cited by 182 publications

References 32 publications

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

Diagnostic Methods in Primary Ciliary Dyskinesia

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