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Nat Genet ; 36(9): 989-93, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15314642

RESUMO

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.


Assuntos
Fatores de Ribosilação do ADP/genética , Síndrome de Bardet-Biedl/genética , Genes ras , Proteínas de Membrana/genética , Mutação , Sequência de Bases , Cílios/metabolismo , Proteínas de Ligação ao GTP/genética , Humanos , Modelos Moleculares , Dados de Sequência Molecular , Neurônios/citologia , Linhagem
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