Tgif disruption of Shh signaling (WP3674)
Homo sapiens
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 WeitzActivity
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Organisms
Homo sapiensCommunities
ExRNAAnnotations
Pathway Ontology
altered Hedgehog signaling pathway signaling pathwayDisease Ontology
genetic diseaseCell Type Ontology
skeletogenic cellLabel | 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
- 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