Abstract:WD60/FAP163 is identified as an additional intermediate chain of the dynein that powers retrograde intraflagellar transport. Lack of WD60/FAP163 results in a severe ciliary assembly defect.
“…Clear homologues of DIC5/FAP133 and of the other intermediate dynein chain, WD60/FAP163, could not be identified in C. elegans (Rompolas et al. , 2007; Patel-King et al. , 2013).…”
Cilia and flagella are assembled by intraflagellar transport (IFT). The protist Trypanosoma brucei is used to investigate retrograde IFT. A model is proposed by which the IFT dynein particle is assembled in the cytoplasm, transferred to the base of the flagellum, and associated with the IFT machinery in a manner dependent on the IFT-A complex.
“…Clear homologues of DIC5/FAP133 and of the other intermediate dynein chain, WD60/FAP163, could not be identified in C. elegans (Rompolas et al. , 2007; Patel-King et al. , 2013).…”
Cilia and flagella are assembled by intraflagellar transport (IFT). The protist Trypanosoma brucei is used to investigate retrograde IFT. A model is proposed by which the IFT dynein particle is assembled in the cytoplasm, transferred to the base of the flagellum, and associated with the IFT machinery in a manner dependent on the IFT-A complex.
“…The sequence of a second dynein intermediate chain (D1bIC1/FAP163, encoded by DIC6 ) is closely related to that of D1bIC2 (Patel-King et al, 2013). Biochemical analysis showed that it is in the same complex as D1bIC2 and LC8 and is transported by IFT in Chlamydomonas .…”
Section: Composition Of the Mainstream Ift Dynein – Cytoplasmic Dyneimentioning
“…In addition, the discovery of novel disease‐associated genes can shed further light on biological processes disrupted in disease states. For example, two of the genes identified by analysis of the current cohort, WDR60 and WDR34 , are homologous to genes in lower organisms that have been implicated as components of cytoplasmic dynein motors . As the vertebrate cytoplasmic dynein‐2 motor responsible for retrograde IFT is not well‐defined at this stage, these data provide valuable insight into the structure of this complex.…”
Short-rib thoracic dystrophies (SRTDs) are congenital disorders due to defects in primary cilium function. SRTDs are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD (WDR34, WDR60 and IFT172); however, the clinical utility of whole exome sequencing (WES) has not been established. WES was performed in 11 individuals with SRTDs. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD genes in 10 individuals (IFT172, DYNC2H1, TTC21B, WDR60, WDR34 and NEK1), giving overall sensitivity of 90.9%. WES data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency <0.005) compound heterozygous variants of unknown significance in SRTD genes (specificity >99%). Costs for consumables, laboratory processing and bioinformatic analysis were
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.