CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
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چکیده
منابع مشابه
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment ...
متن کاملDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
RATIONALE Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS We screened 109 white PCD families originating from Europe and North America for pre...
متن کاملDNAI2 mutations can cause primary ciliary dyskinesia with outer dynein arm defects
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and randomization of left/right body asymmetry. The phenotype results from dysfunction of motile cilia of the respiratory epithelium and the embryonic node. Dysmotile sperm tails often cause infertility in male PCD patients. Underlying ultrastructural defects frequently ...
متن کاملX-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, m...
متن کاملMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Using whole-exome and candidate-gene Sanger resequencing in PCD-affected families afflicted with combined IDA and ODA defects, we found that 6/38 (16%...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2012
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2277