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PMID:16565502
| Citation |
Schrick, JJ, Vogel, P, Abuin, A, Hampton, B and Rice, DS (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. Am. J. Pathol. 168:1288-98 |
|---|---|
| Abstract |
ADP-ribosylation factor-like 3 (Arl3) is a member of a small subfamily of G-proteins involved in membrane-associated vesicular and intracellular trafficking processes. Genetic studies in Leishmania have shown that the Arl3 homolog is essential for flagellum biogenesis. Mutations in a related human family member, Arl6, result in Bardet-Biedl syndrome in humans, which is characterized by genital, renal, and retinal abnormalities, obesity, and learning deficits. As part of our large-scale phenotypic screen, mice deficient for the Arl3 gene were generated and analyzed. Arl3 (-/-) mice were born at a sub-Mendelian ratio, were small and sickly, and had markedly swollen abdomens. These mutants failed to thrive, and all died by 3 weeks of age. The (-/-) mice exhibited abnormal development of renal, hepatic, and pancreatic epithelial tubule structures, which is characteristic of the renal-hepatic-pancreatic dysplasia found in autosomal recessive polycystic kidney disease. Absence of Arl3 was associated with abnormal epithelial cell proliferation and cyst formation. Moreover, mice lacking Arl3 exhibited photoreceptor degeneration as early as postnatal day 14. These results are the first to implicate Arl3 in a ciliary disease affecting the kidney, biliary tract, pancreas, and retina. |
| Links |
PubMed PMC1606550 Online version:10.2353/ajpath.2006.050941 |
| Keywords |
ADP-Ribosylation Factors/genetics; ADP-Ribosylation Factors/metabolism; Animals; Apoptosis; Biliary Tract/abnormalities; Female; Ki-67 Antigen/metabolism; Kidney/growth & development; Kidney/metabolism; Male; Mice; Mice, Knockout; Mutation; Pancreas/growth & development; Pancreas/metabolism; Photoreceptor Cells, Vertebrate/metabolism; Photoreceptor Cells, Vertebrate/physiology; Retina/growth & development; Retina/metabolism |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
MOUSE:ARL3 |
involved_in |
GO:0042461: photoreceptor cell development |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | ||
|
MOUSE:ARL3 |
involved_in |
GO:0001822: kidney development |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | ||
See also
References
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