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PMID:19701191

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Citation

Suriben, R, Kivimäe, S, Fisher, DA, Moon, RT and Cheyette, BN (2009) Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak. Nat. Genet. 41:977-85

Abstract

Mice homozygous for mutations in Dact1 (also called Dapper or Frodo) phenocopy human malformations involving the spine, genitourinary system and distal digestive tract. We traced this phenotype to disrupted germ-layer morphogenesis at the primitive streak. Notably, heterozygous mutation of Vangl2, a transmembrane component of the planar cell polarity (PCP) pathway, rescued recessive Dact1 phenotypes, whereas loss of Dact1 reciprocally rescued semidominant Vangl2 phenotypes. We show that Dact1, an intracellular protein, forms a complex with Vangl2. In Dact1 mutants, Vangl2 was increased at the primitive streak, where cells ordinarily undergo an epithelial-mesenchymal transition. This is associated with abnormal E-cadherin distribution and changes in biochemical measures of the PCP pathway. We conclude that Dact1 contributes to morphogenesis at the primitive streak by regulating Vangl2 upstream of cell adhesion and the PCP pathway.

Links

PubMed PMC2733921 Online version:10.1038/ng.435

Keywords

Alleles; Amino Acid Sequence; Animals; Congenital Abnormalities/etiology; Congenital Abnormalities/genetics; Conserved Sequence; Crosses, Genetic; Gene Expression Regulation, Developmental; Homozygote; Intracellular Signaling Peptides and Proteins/chemistry; Intracellular Signaling Peptides and Proteins/genetics; Intracellular Signaling Peptides and Proteins/metabolism; Intracellular Signaling Peptides and Proteins/physiology; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Molecular Sequence Data; Mutation; Nerve Tissue Proteins/analysis; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Primitive Streak; Protein Structure, Tertiary

Significance

Annotations

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

MOUSE:WNT3A

involved_in

GO:0060070: canonical Wnt signaling pathway

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857489

P

Seeded From UniProt

complete

MOUSE:DVL2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8R4A3

F

Seeded From UniProt

complete

MOUSE:DVL2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q91ZD4

F

Seeded From UniProt

complete

MOUSE:DACT1

involved_in

GO:2000095: regulation of Wnt signaling pathway, planar cell polarity pathway

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:2135272

P

Seeded From UniProt

complete

MOUSE:DACT1

involved_in

GO:0048598: embryonic morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4360072

P

Seeded From UniProt

complete

MOUSE:DACT1

involved_in

GO:0001702: gastrulation with mouth forming second

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:4360072

P

Seeded From UniProt

complete

MOUSE:DACT1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q91ZD4

F

Seeded From UniProt

complete

MOUSE:DACT1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q60838

F

Seeded From UniProt

complete

MOUSE:DACT1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q91ZD4

F

Seeded From UniProt

complete

MOUSE:VANG2

involved_in

GO:0060071: Wnt signaling pathway, planar cell polarity pathway

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1891740

P

Seeded From UniProt

complete

MOUSE:VANG2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q8R4A3

F

Seeded From UniProt

complete

MOUSE:VANG2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q60838

F

Seeded From UniProt

complete

MOUSE:VANG2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8R4A3

F

Seeded From UniProt

complete

MOUSE:WNT3A

involved_in

GO:0060070: canonical Wnt signaling pathway

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1857489

P

occurs_in:(EMAPA:16039)

Seeded From UniProt

complete


See also

References

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