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PMID:21552265

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Citation

Ocbina, PJ, Eggenschwiler, JT, Moskowitz, I and Anderson, KV (2011) Complex interactions between genes controlling trafficking in primary cilia. Nat. Genet. 43:547-53

Abstract

Cilia-associated human genetic disorders are striking in the diversity of their abnormalities and their complex inheritance. Inactivation of the retrograde ciliary motor by mutations in DYNC2H1 causes skeletal dysplasias that have strongly variable expressivity. Here we define previously unknown genetic relationships between Dync2h1 and other genes required for ciliary trafficking. Mutations in mouse Dync2h1 disrupt cilia structure, block Sonic hedgehog signaling and cause midgestation lethality. Heterozygosity for Ift172, a gene required for anterograde ciliary trafficking, suppresses cilia phenotypes, Sonic hedgehog signaling defects and early lethality of Dync2h1 homozygotes. Ift122, like Dync2h1, is required for retrograde ciliary trafficking, but reduction of Ift122 gene dosage also suppresses the Dync2h1 phenotype. These genetic interactions illustrate the cell biology underlying ciliopathies and argue that mutations in intraflagellar transport genes cause their phenotypes because of their roles in cilia architecture rather than direct roles in signaling.

Links

PubMed PMC3132150 Online version:10.1038/ng.832

Keywords

Animals; Carrier Proteins/metabolism; Cilia/genetics; Cytoplasmic Dyneins/genetics; Fibroblasts/metabolism; Hedgehog Proteins/metabolism; Intracellular Signaling Peptides and Proteins/genetics; Intracellular Signaling Peptides and Proteins/physiology; Mice; Mutation

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0030182: neuron differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3578144

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000099)|occurs_in(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:105373
MGI:MGI:95729
MGI:MGI:98297

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:105373
MGI:MGI:95729
MGI:MGI:98297

P

  • occurs_in:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:DYHC2

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:105373

P

  • occurs_in:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:SHH

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1932386

P

  • occurs_in:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:98297

P

  • occurs_in:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:IF172

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2682066

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:IF172

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2682066

P

  • occurs_in:(EMAPA:16530)

Seeded From UniProt

complete

MOUSE:IF172

acts_upstream_of_or_within

GO:0060271: cilium assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2682066

P

Seeded From UniProt

complete

MOUSE:GLI2

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857509

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:SHH

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:107736

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:SHH

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1932386

P

Seeded From UniProt

complete

MOUSE:PTC1

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:107736

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete

MOUSE:IF122

acts_upstream_of_or_within

GO:0009953: dorsal/ventral pattern formation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:98297

P

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0021522: spinal cord motor neuron differentiation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:107736

P

  • occurs_in:(EMAPA:16530)
  • results_in_acquisition_of_features_of:(CL:0000100)

Seeded From UniProt

complete


See also

References

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