GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001716
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
no ribs in the lumbar region
Trait State in Taxon B
ribs in the lumbar region
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
squamates
Synonyms
squamates
Rank
order
Lineage
Show more ... Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B #1
Common Name
-
Synonyms
Elaphe guttatus guttatus
Rank
subspecies
Lineage
Show more ... pha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria; Squamata; Bifurcata; Unidentata; Episquamata; Toxicofera; Serpentes; Colubroidea; Colubridae; Colubrinae; Pantherophis; Pantherophis guttatus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
Taxon B #2
Common Name
reticulated python
Synonyms
Boa reticulata; Broghammerus reticulatus; Python reticulatus; reticulated python; reticulate python; Python reticulatus (Schneider, 1801); ZFMK 32378; ZFMK:32378
Rank
species
Lineage
Show more ... mi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria; Squamata; Bifurcata; Unidentata; Episquamata; Toxicofera; Serpentes; Henophidia; Pythonidae; Malayopython
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
Taxon B #3
Common Name
boa
Synonyms
Constrictor constrictor; boa; Boa constrictor Linnaeus, 1758
Rank
species
Lineage
Show more ... eostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Lepidosauria; Squamata; Bifurcata; Unidentata; Episquamata; Toxicofera; Serpentes; Henophidia; Boidae; Boinae; Boa
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
Molecular Details of the Mutation
one nucleotide change at a Hox binding site (CTAATTG to CCAATTG) - mouse transgenics and protein-DNA binding assay
Experimental Evidence
Authors
Guerreiro I; Nunes A; Woltering JM; Casaca A; Nóvoa A; Vinagre T; Hunter ME; Duboule D; et al. ... show more
Abstract
Patterning of the vertebrate skeleton requires the coordinated activity of Hox genes. In particular, Hox10 proteins are essential to set the transition from thoracic to lumbar vertebrae because of their rib-repressing activity. In snakes, however, the thoracic region extends well into Hox10-expressing areas of the embryo, suggesting that these proteins are unable to block rib formation. Here, we show that this is not a result of the loss of rib-repressing properties by the snake proteins, but rather to a single base pair change in a Hox/Paired box (Pax)-responsive enhancer, which prevents the binding of Hox proteins. This polymorphism is also found in Paenungulata, such as elephants and manatees, which have extended rib cages. In vivo, this modified enhancer failed to respond to Hox10 activity, supporting its role in the extension of rib cages. In contrast, the enhancer could still interact with Hoxb6 and Pax3 to promote rib formation. These results suggest that a polymorphism in the Hox/Pax-responsive enhancer may have played a role in the evolution of the vertebrate spine by differently modulating its response to rib-suppressing and rib-promoting Hox proteins.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
@Parallelism - same nucleotide change occurred in tenrecs; elephants; hyrax and manatees
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