Ciliary outer dynein arm. Medical search. Frequent questions

Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). (medlineplus.gov)
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (ucl.ac.uk)
Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family. (cdc.gov)

This test is for patients with primary ciliary dyskinesia, particularly those with ODA structural defects (Mazor et al. (preventiongenetics.com)
Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia. (cdc.gov)

Much of this cilium is still covered by the ciliary membrane. (cellimagelibrary.org)
When the end of the microtubules become close to the cell membrane, they release a chemical signal that punts the dynein to the other side of the cell. (wikipedia.org)
right panel shows high magnification TEM through a JO sensory cilium, pseudocolored to show the ciliary membrane (peach), microtubule doublets (purple) inner dynein arms (yellow), outer dynein arms (green) and an accessory microtubule derivative (navy). (uiowa.edu)
Cargoes include both protein factors that are part of the ciliary backbone (known as the axoneme) as well as certain signaling factors such as G-protein coupled receptors (GPCRs) that function in the ciliary membrane to transfer extracellular information to the interior of the cell. (au.dk)
Freeze fracture of the plasma membrane and outer alveolar membrane of the pellicle of V. microstoma. (ucsd.edu)
The P-face of the ciliary membrane at the base of the cilium has 9 triple rows of IMPs in register with the 9 doublets of the internal axoneme. (ucsd.edu)
An 11-kDa protein associated with the outer membrane of many cells including lymphocytes. (lookformedical.com)

DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects. (mpg.de)
For example, we found that mutations in the outer dynein arm protein DNAH9 result in laterality defects associated with no or only very mild respiratory symptoms. (europa.eu)
Using cutting edge technologies such as CRISPR base editing approaches enables us to gain deeper insight into ciliary protein networks and dissect the molecular defects resulting from human patient mutations. (europa.eu)
Ultrastructural and functional defects of cilia result in the lack of effective ciliary motility, causing abnormal mucociliary clearance. (medscape.com)
[ 4 , 5 ] the term primary ciliary dyskinesia (PCD) is used to describe the genetic defect and to differentiate it from acquired defects. (medscape.com)
Genetic defects affecting ODA assembly or delivery can lead to a severe lung disease called Primary Ciliary Dyskinesia or to infertility, due to the role played by dyneins in the motion of sperm tails. (cam.ac.uk)
Defects in dynein arm function occur in Primary Ciliary Dyskinesia, a disorder affecting 1:15,000-30,000 human births. (uoregon.edu)
Conventional transmission electron microscopy (TEM) is a diagnostic standard to identify ultrastructural defects in respiratory cilia but is not useful in approximately 30% of PCD cases, which have normal ciliary ultrastructure. (humantechnopole.it)
An Integrated Analysis of Radial Spoke Head and Outer Dynein Arm Protein Defects and Ciliogenesis Abnormality in Nasal Polyps. (nuh.com.sg)
Motile ciliopathy can result from defects in the dyneins themselves or from defects in factors required for their cytoplasmic pre-assembly. (wustl.edu)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. (ucl.ac.uk)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. (ucl.ac.uk)
recessive disorder consisting of the triad of Approximately 50 % of patients with SCD sinusitis, bronchiectasis and situs inversus with have laterality defects (including situs inversus dextrocardia and represents a subgroup of totalis and, less frequently, heterotaxy and primary ciliary dyskinesia (PCD). (bvsalud.org)

The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. (cdc.gov)

Immotile cilia syndrome (ICS) is an autosomal recessive disease with extensive genetic heterogeneity characterized by abnormal ciliary motion and impaired mucociliary clearance. (medscape.com)
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder characterized by abnormal ciliary motion, due to a defect in ciliary structure and/or function. (unisi.it)

Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene. (wikipedia.org)
This has led to the identification of a number of novel disease causing genes and provided novel insight into ciliary protein organisation and functions. (europa.eu)
Radial spokes connect the outer microtubular doublets with a central sheath of protein around the central tubules. (medscape.com)
The identification of Shulin as a key protein that allows unimpeded delivery of dynein motors to the cilia is a step towards this. (cam.ac.uk)
Daw1 is a cytoplasmic protein thought to be required for cilia beating by controlling import of dynein arms into cilia. (uoregon.edu)
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. (utsouthwestern.edu)
While a postdoctoral student at MIT, Tomomi Kiyomitsu discovered how dynein has a role as a motor protein in aligning the chromosomes in the middle of the cell during the metaphase of mitosis. (wikipedia.org)
A knockout of the conserved ciliary protein FAP206 in the ciliate Tetrahymena resulted in slow cell motility. (emory.edu)
IFT protein assemblies serve as large adaptors that mediate the recognition of molecular motors and ciliary cargoes required to assemble and maintain functional cilia. (au.dk)
We also determined the structures of factors involved in the IFT of large protein complexes known as Outer-Dynein-Arms (ODAs) required for the beating of motile cilia (Taschner et al. (au.dk)
One protein (flagellin), which bears no resemblance to tubulin or dynein, makes up the bacterial flagellum, a specialised component of the extracellular cell wall. (risingacademy.org)
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. (thermofisher.com)

Each cilium has an array of longitudinal microtubules arranged as 9 doublets formed in an outer circle around a central pair (see image below). (medscape.com)
Outer dynein arms (ODAs) are arranged along the cytoskeletal scaffold of cilia and pull on microtubules to make them slide and bend, thereby driving the cilia waving motion. (cam.ac.uk)
By moving cargoes along microtubules, dyneins ensure proper cell division, regulate exchange of materials between organelles, and contribute to the internal organization of eukaryotic cells. (humantechnopole.it)
Dyneins are a family of cytoskeletal motor proteins that move along microtubules in cells . (wikipedia.org)
Axonemal dynein causes sliding of microtubules in the axonemes of cilia and flagella and is found only in cells that have those structures. (wikipedia.org)
Cytoplasmic dynein positions the spindle at the site of cytokinesis by anchoring to the cell cortex and pulling on astral microtubules emanating from centrosome . (wikipedia.org)
Dynein pulls the microtubules and chromosomes to one end of the cell. (wikipedia.org)
Thus kinesin-13 positively regulates the axoneme length, influences the properties of ciliary tubulin, and likely indirectly, through its effects on the axonemal microtubules, affects the ciliary dynein-dependent motility. (emory.edu)
Large motor complexes, the ciliary dyneins, are present on ciliary outer-doublet microtubules and drive movement of cilia. (emory.edu)
There are nine outside pairs of microtubules, known as doublets, and two centre singlet microtubules, each with 13 protofilaments, embedded in the ciliary matrix that fills each axoneme. (risingacademy.org)

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography. (ucl.ac.uk)
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. (ucl.ac.uk)
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. (cdc.gov)

Morphological and ultrastructural analyses of the axoneme in the sperm flagellum demonstrated the complete loss of both the inner and outer dynein arms (IDA and ODA, respectively). (unisi.it)
Noteworthy, TEM analysis of the axoneme from respiratory cilia showed that dynein arms, although either IDAs and/or ODAs seldom missing on some doublets, are still partly present in each observed section. (unisi.it)
Sliding is changed into bending because the arms are activated in a certain order both inside and outside the axoneme and because the radial spokes and inter-doublet linkages limit how much sliding is possible. (risingacademy.org)

Further, our results point stress that ciliary motility complexes such as dynein arms are organised in a compartementalised manner. (europa.eu)
In axonemes from mutants that lack both the outer dynein arms and the MIA complex, I1 dynein failed to assemble, suggesting physical interactions between these three axonemal complexes and a role for the MIA complex in the stable assembly of I1 dynein. (emory.edu)
Radial spokes are conserved macromolecular complexes that are essential for ciliary motility. (emory.edu)

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. (nih.gov)
Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. (medlineplus.gov)

In addition, we were able to establish a number of phenotype genotype correlation for motile ciliopathies/laterality disorders, inherited renal and skeletal phenotypes and neuro-developmental disorders By creating several of dynein-2- and IFT-mutant cell lines harboring human disease alleles using CRISPR base editing technologies, the project achieved generation of unique in-vitro ciliary condrodysplasia disease models. (europa.eu)
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting the function of motile cilia (reviewed by Leigh et al. (preventiongenetics.com)
All motile cilia have both inner and outer dynein arms attached at regular intervals to the peripheral microtubule doublets. (preventiongenetics.com)
Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151. (ucl.ac.uk)
Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. (thermofisher.com)

We are using Next Generation Sequencing (NGS) technologies, mainly Exome Sequencing to unravel the underlying genetic cause of human ciliary disorders. (europa.eu)
Aquatic models of human ciliary diseases. (xenbase.org)

Applying a polymerase chain reaction-based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus. (nih.gov)

Here, we use in vivo imaging in Xenopus to show that inner dynein arm (IDA) and outer dynein arm (ODA) subunits are partitioned into non-overlapping sub-regions within DynAPs. (wustl.edu)

Axonemal dyneins must be precisely regulated and coordinated to produce ordered ciliary/flagellar motility, but how this is achieved is not understood. (emory.edu)

Cytoplasmic dyneins transport cellular components from the periphery toward the center of the cell. (humantechnopole.it)
cytoplasmic dyneins and axonemal dyneins , which are also called ciliary or flagellar dyneins. (wikipedia.org)
Cytoplasmic dynein, found in all animal cells and possibly plant cells as well, performs functions necessary for cell survival such as organelle transport and centrosome assembly. (wikipedia.org)
Cytoplasmic dynein helps to position the Golgi complex and other organelles in the cell. (wikipedia.org)
Human cytoplasmic dynein 2 domains. (wikipedia.org)
Shown is the order of regions of interest for human cytoplasmic dynein 2 motor domains as they occur from the linker to C-terminal. (wikipedia.org)

Direct examination of the respiratory cilia revealed ciliary akinesia. (nih.gov)

Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance. (humantechnopole.it)

Mutations in the DNAL1 gene are associated with primary ciliary dyskinesia. (wikipedia.org)
TREATCilia aimed to uncover underlying molecular pathophysiology in dynein based ciliopathies from gene to mechanism and we hope to identify future pharmacological entry points to ameliorate ciliary dynein-related phenotypes. (europa.eu)
Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. (nih.gov)
Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. (utsouthwestern.edu)

A high resolution image of portion of an isolated cilium exposing two rows of outer dynein arms arising from subfiber A of each doublet. (cellimagelibrary.org)
For example, intraflagellar transport (IFT) trains constantly shuttle ciliary components between the base and tip of the eukaryotic cilium. (humantechnopole.it)
Together with the observation that mutations in ciliary genes result in ciliopathy diseases in human with pathologies such as blindness, obesity, mental disabilities, sterility and cystic kidneys, this has led to an explosion in cilium research. (au.dk)
The dynein arms press on the neighbouring outer doublets, causing a sliding movement to happen between adjacent outer doublets, using ATP generated by mitochondria near the base of the cilium or flagellum as fuel. (risingacademy.org)

Their motility depends on the assembly of outer dynein arms: ATPases which power ciliary beating. (uoregon.edu)

The heavy chains of the dynein complex are linked to the microtubule by stems that can be seen in this micrograph. (cellimagelibrary.org)

Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. (nih.gov)

About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). (medlineplus.gov)
When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. (medlineplus.gov)
Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. (medlineplus.gov)

Shulin locks the three arms of ODAs together to allow unimpeded delivery of dyneins to the cilia. (cam.ac.uk)
Ferdos Abid Ali and Clinton Lau, also in Andrew's group, helped determine a highly resolved cryo-EM structure of Shulin bound to ODAs to see how it held the arms together making this investigation span multiple scales of biology, from the level of single-celled ciliated organisms to the atomic scale. (cam.ac.uk)

We found no difference by sex or ultrastructural ciliary defect. (ersjournals.com)

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). (medlineplus.gov)

Electron microscopic examination of cilia showed absence of the outer dynein arms. (nih.gov)
Cryo-electron tomography of mia mutant axonemes revealed that the MIA complex was located immediately distal to the intermediate/light chain complex of I1 dynein and structurally appeared to connect with the nexin-dynein regulatory complex. (emory.edu)
Cryo-electron tomography showed that in the absence of FAP206, the 96-nm repeats lacked RS2 and dynein c. (emory.edu)

The MIA complex appears to regulate I1 dynein and possibly outer arm dyneins, which are both essential for normal motility. (emory.edu)

Individual dynein particles in the background image are in their open state unbound by Shulin. (cam.ac.uk)
Recent work demonstrates that axonemal dyneins, their specific assembly factors, and broadly-acting chaperones are concentrated in liquid-like organelles in the cytoplasm called DynAPs (Dynein Axonemal Particles). (wustl.edu)

Dynein transports various cellular cargos , provides forces and displacements important in mitosis , and drives the beat of eukaryotic cilia and flagella . (wikipedia.org)
An ATPase called dynein transfers the energy generated during ATP hydrolysis into the mechanical labour required to beat cilia and flagella. (risingacademy.org)

Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. (medlineplus.gov)
Ciliary movement sweeps mucus, dirt, and bacteria out of the lungs, nasal passageways, and ear canals, thus protecting them from recurrent infections. (preventiongenetics.com)

The long-term goal of our research is to decipher the structure of the complete IFT particle to understand how it functions in IFT train assembly and the selection of cargoes for intra-ciliary trafficking. (au.dk)

Primary ciliary dyskinesia can result from mutations in many different genes. (medlineplus.gov)
We found that the MIA1 and MIA2 genes encode conserved coiled-coil proteins, FAP100 and FAP73, respectively, which form the modifier of inner arms (MIA) complex in flagella. (emory.edu)

Dynein is involved in the movement of chromosomes and positioning the mitotic spindles for cell division. (wikipedia.org)

Primary ciliary dyskinesia (PCD) is a rare, genetic, multi-organ disease characterised by significant genetic and clinical variability [ 1 , 2 ]. (ersjournals.com)
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. (cdc.gov)
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review. (cdc.gov)

These proteins include dynein, a molecular motor that can cause flagella to bend, and propel the cell relative to its environment or propel water or mucus relative to the cell. (newworldencyclopedia.org)

Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience. (cdc.gov)

abstract = "Ciliary motility is driven by axonemal dyneins that are assembled in the cytoplasm before deployment to cilia. (wustl.edu)

Anatomy9

Organisms5

Diseases3

Chemicals and Drugs13

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Phenomena and Processes12

Technology, Industry, Agriculture1

Information Science4

Cause primary ciliary dy3

Patients with primary ciliary dy2

Membrane7

Defects13

Primary ciliary dyskinesia1

Characterized by abnormal ciliary motion2

Protein12

Microtubules10

Ultrastructure3

Axoneme3

Complexes3

Sperm2

Motile5

Human ciliary2

Axonemal heavy1

Subunits1

Flagellar motility1

Cytoplasmic6

Respiratory cilia1

Disorders1

Gene4

Cilium4

ATPases1

Linked to the microtubule1

Mucociliary clearance1

Situs3

ODAs2

Defect1

Disorder characterized1

Electron3

Regulate1

Particles2

Cilia and Flagella2

Recurrent2

Cargoes1

Genes2

Chromosomes1

Genetic3

Proteins1

Centre1

Abstract1