The RJL family of small GTPases is an ancient eukaryotic invention probably functionally associated with the flagellar apparatus

Eliáš, Marek; Archibald, John M.

doi:10.1016/j.gene.2009.04.011

Cited by 26 publications

(21 citation statements)

References 107 publications

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“…The presence of a predicted Ahi1 homologue in the Aureococcus anophagefferens genome is interesting, as this organism is not known to have a flagellate life-cycle stage [60,61]. No centrioles have been observed in Aureococcus to date; however, the A. anophagefferens genome does have components of the core centriole [62] and it has been proposed to have a flagellate stage in its life-cycle based on the presence of flagellar components in its genome [61,63,64]. Our genomic analysis showing the presence of an Ahi1 homolog in A. anophagefferens is entirely consistent with this idea.…”

Section: Discussionmentioning

confidence: 99%

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

Simms

Hynes

Eley

et al. 2011

Cell. Mol. Life Sci.

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Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy, and nephronophthisis (a cystic kidney disease). Mutations in AHI1 are the most common genetic cause of JSRD, with developmental hindbrain anomalies and retinal degeneration being prominent features. We demonstrate that Ahi1, a WD40 domain-containing protein, is highly conserved throughout evolution and its expression associates with ciliated organisms. In zebrafish ahi1 morphants, the phenotypic spectrum of JSRD is modeled, with embryos showing brain, eye, and ear abnormalities, together with renal cysts and cloacal dilatation. Following ahi1 knockdown in zebrafish, we demonstrate loss of cilia at Kupffer's vesicle and subsequently defects in cardiac left-right asymmetry. Finally, using siRNA in renal epithelial cells we demonstrate a role for Ahi1 in both ciliogenesis and cell-cell junction formation. These data support a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.

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Section: Discussionmentioning

confidence: 99%

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

Simms

Hynes

Eley

et al. 2011

Cell. Mol. Life Sci.

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“…Similarly, the stramenopile alga A. anophagefferens is also non-flagellate and acentriolar in the lifecycle stages thus far analysed (Sieburth et al, 1988), but possesses 11 of the 14 core centriolar proteins. Because of the presence of genes encoding components of intraflagellar transport (Woodland and Fry, 2008) and flagellar apparatus (Elias and Archibald, 2009), it has previously been suggested that A. anophagefferens might possess a flagellate stage similar to that seen in at least some other pelagophytes. On the basis of our observations here and the presence of genes encoding inner-arm dyneins , we predict that O. tauri also forms basal bodies and cilia at some point in its lifecycle -most likely in a yet to be observed gamete or zoospore.…”

Section: Ancestral Centriolar Core Componentsmentioning

confidence: 99%

Reconstructing the evolutionary history of the centriole from protein components

Hodges

Scheumann

Wickstead

et al. 2010

Journal of Cell Science

218

291

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SummaryCentrioles are highly conserved structures that fulfil important cellular functions, such as nucleation of cilia and flagella (basal-body function) and organisation of pericentriolar material to form the centrosome. The evolution of these functions can be inferred from the distribution of the molecular components of extant centrioles and centrosomes. Here, we undertake an evolutionary analysis of 53 proteins known either for centriolar association or for involvement in cilia-associated pathologies. By linking protein distribution in 45 diverse eukaryotes with organism biology, we provide molecular evidence to show that basal-body function is ancestral, whereas the presence of the centrosome is specific to the Holozoa. We define an ancestral centriolar inventory of 14 core proteins, Polo-likekinase, and proteins associated with Bardet-Biedl syndrome (BBS) and Meckel-Gruber syndrome. We show that the BBSome is absent from organisms that produce cilia only for motility, predicting a dominant and ancient role for this complex in sensory function. We also show that the unusual centriole of Caenorhabditis elegans is highly divergent in both protein composition and sequence. Finally, we demonstrate a correlation between the presence of specific centriolar proteins and eye evolution. This correlation is used to predict proteins with functions in the development of ciliary, but not rhabdomeric, eyes.

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“…Scattered phylogenetic distribution of homologous genes may be indicative of horizontal gene transfer (HGT), but such a pattern may be also generated by gene loss (Elias and Archibald 2009b), an important but perhaps underestimated evolutionary process.…”

Section: The Omnipresent Reductive Evolutionmentioning

confidence: 99%

Patterns and processes in the evolution of the eukaryotic endomembrane system

Eliáš

2010

Molecular Membrane Biology

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The eukaryotic endomembrane system (ES) is served by hundreds of dedicated proteins. Experimental characterization of the ES-associated molecular machinery in several model eukaryotes complemented by a recent progress in phylogenomics and comparative genomics have revealed a conserved complex core of the machinery that appears to have been established before the last eukaryotic common ancestor (LECA). At the same time, modern eukaryotes exhibit a huge variation in the ES resulting from a multitude of evolutionary processes operating along the ever-branching paths from the LECA to its descendants. The most important source of evolutionary novelty in the ES functioning has undoubtedly been gene duplication followed by divergence of the gene copies, responsible not only for the pre-LECA establishment of many multi-paralog families of proteins in the very core of the ES-associated machinery, but also for post-LECA lineage-specific elaborations via family expansions and the origin of novel components. Extreme sequence divergence has obscured actual homologous relationships between potentially many components of the machinery, even between orthologous proteins, as illustrated by the yeast Vps51 subunit of the vesicle tethering complex GARP hypothesized here to be a highly modified ortholog of a conserved eukaryotic family typified by the zebrafish Fat-free (Ffr) protein. A dynamic evolution of many ES-associated proteins, especially those centred around RAB and ARF GTPases, seems to take place at the level of their domain architectures. Finally, reductive evolution and recurrent gene loss are emerging as pervasive factors shaping the ES in all phylogenetic lineages.Key to a full understanding of evolution of the ES, like of any other aspect of the eukaryotic cell, is a robust phylogenetic scheme bringing an order into the vast

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The RJL family of small GTPases is an ancient eukaryotic invention probably functionally associated with the flagellar apparatus

Cited by 26 publications

References 107 publications

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

Reconstructing the evolutionary history of the centriole from protein components

Patterns and processes in the evolution of the eukaryotic endomembrane system

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