GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000307
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Other amniotes
Trait State in Taxon B
Mammals
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
amniotes
Synonyms
amniotes
Rank
no rank
Lineage
Show more ... rganisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
mammals
Synonyms
mammals
Rank
class
Lineage
Show more ... Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Fezf2
Synonyms
Fez; Fezl; Zfp312; AI451466; AI852056
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
GO - Cellular Component
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Molecular Details of the Mutation
Acquisition of SOX binding sites in enhancer E4
Experimental Evidence
Authors
Shim S; Kwan KY; Li M; Lefebvre V; Sestan N
Abstract
The co-emergence of a six-layered cerebral neocortex and its corticospinal output system is one of the evolutionary hallmarks of mammals. However, the genetic programs that underlie their development and evolution remain poorly understood. Here we identify a conserved non-exonic element (E4) that acts as a cortex-specific enhancer for the nearby gene Fezf2 (also known as Fezl and Zfp312), which is required for the specification of corticospinal neuron identity and connectivity. We find that SOX4 and SOX11 functionally compete with the repressor SOX5 in the transactivation of E4. Cortex-specific double deletion of Sox4 and Sox11 leads to the loss of Fezf2 expression, failed specification of corticospinal neurons and, independent of Fezf2, a reeler-like inversion of layers. We show evidence supporting the emergence of functional SOX-binding sites in E4 during tetrapod evolution, and their subsequent stabilization in mammals and possibly amniotes. These findings reveal that SOX transcription factors converge onto a cis-acting element of Fezf2 and form critical components of a regulatory network controlling the identity and connectivity of corticospinal neurons.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
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