GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001389
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Mouse
Trait State in Taxon B
Cattle
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
house mouse
Synonyms
house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
Rank
species
Lineage
Show more ... i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Ptch1
Synonyms
Ptc; mes; wig; Ptc1; Ptch; A230106A15Rik
Sequence Similarities
Belongs to the patched family.
GO - Biological Process
GO:0007165 : signal transduction ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Molecular Details of the Mutation
LRM enhancer located between coding exons 15 and 19 at 37 kb of the transcription start site - exact causing mutation(s) unknown - Loss of activity of the LRM enhancer that normally upregulates Ptch1 expression in the limb-bud mesenchyme in response to SHH signalling
Experimental Evidence
Authors
Lopez-Rios J; Duchesne A; Speziale D; Andrey G; Peterson KA; Germann P; Unal E; Liu J; et al. ... show more
Abstract
The large spectrum of limb morphologies reflects the wide evolutionary diversification of the basic pentadactyl pattern in tetrapods. In even-toed ungulates (artiodactyls, including cattle), limbs are adapted for running as a consequence of progressive reduction of their distal skeleton to symmetrical and elongated middle digits with hoofed phalanges. Here we analyse bovine embryos to establish that polarized gene expression is progressively lost during limb development in comparison to the mouse. Notably, the transcriptional upregulation of the Ptch1 gene, which encodes a Sonic hedgehog (SHH) receptor, is disrupted specifically in the bovine limb bud mesenchyme. This is due to evolutionary alteration of a Ptch1 cis-regulatory module, which no longer responds to graded SHH signalling during bovine handplate development. Our study provides a molecular explanation for the loss of digit asymmetry in bovine limb buds and suggests that modifications affecting the Ptch1 cis-regulatory landscape have contributed to evolutionary diversification of artiodactyl limbs.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
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