Table 1.

Mammalian kidney disease genes and C. elegans homologs

GeneC. elegans homologC. elegans expression patternMutant phenotype (Genetic mutation, Δ, and/or RNAi)
Autosomal dominant polycystic kidney disease (ADPKD)
PKD1lov-1(ZK945.9)Ciliated sensory neurons (male) (58, 60)Δ: Male sensory defects, cilia development normal (52,54)
PKD2pkd-2 (Y73F8A.1)Ciliated sensory neurons (male) (58, 60)Δ: Male sensory defects, cilia development normal (52,54)
Autosomal recessive polycystic kidney disease (ARPKD)
Tg737orpkosm-5(Y41G9A.3)Ciliated sensory neurons (all) (39)Δ: Abnormal cilia development (32)
heterotrimericklp-11(F20C5.2)Ciliated sensory neurons (31)Δ (non-null): cilia development normal (25)
kinesin-II;klp-20(Y50D7A.6)N.D.N.D.
KIF3Akap-1(F08F8.3)Ciliated sensory neurons (31)Δ: cilia development normal, IFT rates abnormal (25)
Homodimeric kinesin-II KIF17osm-3(M02B7.3)Ciliated sensory neurons (subset) (31)Δ: Abnormal cilia development (subset) (32)
PKHD1None
cpk/CystinNone
Bardet-Biedl Syndrome (BBS)
BBS1Y105E8A.5Ciliated sensory neurons (all) (17)N.D.
BBS2F20D12.3Ciliated sensory neurons (all) (17)RNAi: WT (65)
BBS3arl-6 (C38D4.8)Ciliated sensory neurons (62)RNAi: WT (65,66)
BBS4None
BBS5R01H10.6Ciliated sensory neurons (all) (19)RNAi: WT (65,66)
BBS6None
BBS7osm-12 (Y75B8A.12)Ciliated sensory neurons (all) (17)Δ: chemotaxis defects and abnormal cilium structure (16)
BBS8T25F10.5Ciliated sensory neurons (all) (17)Δ: chemotaxis defects and abnormal cilium structure (16)
Nephronophthisis (NPH)
NPHP1M28.7Ciliated sensory neurons (subset) (unpublished)RNAi: WT (65) Δ (non-null): cilia development normal (unpublished)
NPHP2(inversin)ZC15.7N.D.N.D.
T28D6.4N.D.RNAi: WT (65,66); genome instability (67)
NPHP3klc-1 (M7.2)N.D.RNAi: WT (65); Embryonic lethal (68)
klc-2 (C18C4.10)N.D.N.D.
NPHP4R13H4.1Ciliated sensory neurons (subset) (unpublished)Δ (non-null): cilia development normal (unpublished)
  • Mammalian kidney disease genes and C. elegans homologs. Column 1 indicates the mammalian disease gene. All are human disease genes with the exception of Tg737, KIF3A, and cystin, which are mouse ARPKD genes. No renal function or phenotype has been described for KIF17, the mammalian homologue of OSM-3. Column 2 indicates C. elegans homolog with gene name and/or cosmid number. There are no PKHD1,cystin, BBS4, or BBS6 homologs identified in the C. elegans genome. NPHP2 homology is limited to the amino terminal ankyrin repeats. NPHP3 homology is restricted to the C-termainal TPR domains. klc-1 and klc-2 encode predicted kinesin light chain (KLC) proteins. Column 3 indicates GFP expression patterns. Column 4 indicates gene function as determined by genetic mutation (Δ) or RNA interference (RNAi). WT, wild type; N.D., not determined or no data published.