Редактирование: DYNC2H1

Cytoplasmic dynein 2 heavy chain 1 (Cytoplasmic dynein 2 heavy chain) (Dynein cytoplasmic heavy chain 2) (Dynein heavy chain 11) (hDHC11) (Dynein heavy chain isotype 1B) [DHC1B] [DHC2] [DNCH2] [DYH1B] [KIAA1997]

==Publications==

{{medline-entry
|title=Role for intraflagellar transport in building a functional transition zone.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/30429209
|abstract=Genetic disorders caused by cilia dysfunction, termed ciliopathies, frequently involve the intraflagellar transport (IFT) system. Mutations in IFT subunits-including IFT-dynein motor [[DYNC2H1]]-impair ciliary structures and Hedgehog signalling, typically leading to "skeletal" ciliopathies such as Jeune asphyxiating thoracic dystrophy. Intriguingly, IFT gene mutations also cause eye, kidney and brain ciliopathies often linked to defects in the transition zone (TZ), a ciliary gate implicated in Hedgehog signalling. Here, we identify a [i]C. elegans[/i] temperature-sensitive ([i]ts[/i]) IFT-dynein mutant ([i]che-3[/i]; human [[DYNC2H1]]) and use it to show a role for retrograde IFT in anterograde transport and ciliary maintenance. Unexpectedly, correct TZ assembly and gating function for periciliary proteins also require IFT-dynein. Using the reversibility of the novel [i]ts[/i]-IFT-dynein, we show that restoring IFT in adults (post-developmentally) reverses defects in ciliary structure, TZ protein localisation and ciliary gating. Notably, this ability to reverse TZ defects declines as animals age. Together, our findings reveal a previously unknown role for IFT in TZ assembly in metazoans, providing new insights into the pathomechanism and potential phenotypic overlap between IFT- and TZ-associated ciliopathies.
|mesh-terms=* Aging
* Alleles
* Amino Acid Sequence
* Animals
* Biological Transport
* Caenorhabditis elegans
* Caenorhabditis elegans Proteins
* Cilia
* Dyneins
* Flagella
* Genetic Testing
* Humans
* Models, Biological
* Mutation
* Temperature
|keywords=* 
C. elegans

* 
IFT

* cilia
* dynein
* transition zone
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280794
}}