Tgif disruption of Shh signaling (WP3674)

Homo sapiens

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Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause holoprosencephaly (HPE). HPE is a severe human genetic disease affecting craniofacial development of children. The TGIF1 gene maps to the HPE4, and the heterozygous loss of the TGIF1 mutations are associated with HPE, however mouse models have yet to explain how the inhibition of TGIF causes the genetic disease Holoprosencephaly. Using a conditional Tgif1 allele, Taniguchi, et al. showed that mouse embryos lacking both Tgif1 and the related Tgif2 have HPE-like phenotypes reminiscent of Shh null embryos.

Authors

AAR&Co , Egon Willighagen , Alex Pico , Denise Slenter , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

ExRNA

Annotations

Pathway Ontology

altered Hedgehog signaling pathway signaling pathway

Disease Ontology

genetic disease

Cell Type Ontology

skeletogenic cell

Participants
Query Drugst.One

Label Type Compact URI Comment
TGIF2 GeneProduct ensembl:ENSG00000118707
SHH GeneProduct ensembl:ENSG00000164690
NKX2-1 GeneProduct ensembl:ENSG00000136352
FGF8 GeneProduct ensembl:ENSG00000107831
SMAD2 GeneProduct ensembl:ENSG00000175387
FOXG1 GeneProduct ensembl:ENSG00000176165
TGIF1 GeneProduct ensembl:ENSG00000177426
GLI3 GeneProduct ensembl:ENSG00000106571
NODAL GeneProduct ensembl:ENSG00000156574

References

  1. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway. Taniguchi K, Anderson AE, Sutherland AE, Wotton D. PLoS Genet. 2012;8(2):e1002524. PubMed Europe PMC Scholia