RGD Reference Report - Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. - Rat Genome Database

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Authors: Fan, Y  Esmail, MA  Ansley, SJ  Blacque, OE  Boroevich, K  Ross, AJ  Moore, SJ  Badano, JL  May-Simera, H  Compton, DS  Green, JS  Lewis, RA  Van Haelst, MM  Parfrey, PS  Baillie, DL  Beales, PL  Katsanis, N  Davidson, WS  Leroux, MR 
Citation: Fan Y, etal., Nat Genet. 2004 Sep;36(9):989-93. Epub 2004 Aug 15.
RGD ID: 1578724
Pubmed: PMID:15314642   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1414   (Journal Full-text)

RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known members of this family are linked to human disease. Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. Analysis of the Caenorhabditis elegans ARL6 homolog indicates that it is specifically expressed in ciliated cells, and that, in addition to the postulated cytoplasmic functions of ARL proteins, it undergoes intraflagellar transport. These findings implicate a small GTP-binding protein in ciliary transport and the pathogenesis of a pleiotropic disorder.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bardet-Biedl syndrome  IAGP 1578724DNA:missense mutations:multiple (human)RGD 
Bardet-Biedl syndrome  ISOARL6 (Homo sapiens)1578724; 1578724DNA:missense mutations:multiple (human)RGD 

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Arf family mediated signaling pathway  TAS 1578724 RGD 
Arf family mediated signaling pathway  ISOARL6 (Homo sapiens)1578724; 1578724 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Arl6  (ADP-ribosylation factor like GTPase 6)

Genes (Mus musculus)
Arl6  (ADP-ribosylation factor-like 6)

Genes (Homo sapiens)
ARL6  (ADP ribosylation factor like GTPase 6)


Additional Information