GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00000538
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Lymnaea stagnalis - dextral (DD or Dd)
Trait State in Taxon B
Lymnaea stagnalis - sinistral (dd)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
great pond snail
Synonyms
great pond snail
Rank
species
Lineage
Show more ... nisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Protostomia; Lophotrochozoa; Mollusca; Gastropoda; Heterobranchia; Euthyneura; Panpulmonata; Hygrophila; Lymnaeoidea; Lymnaeidae; Lymnaea
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
great pond snail
Synonyms
great pond snail
Rank
species
Lineage
Show more ... nisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Protostomia; Lophotrochozoa; Mollusca; Gastropoda; Heterobranchia; Euthyneura; Panpulmonata; Hygrophila; Lymnaeoidea; Lymnaeidae; Lymnaea
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
1bp deletion resulting in frame-shift (pseudogenization)
Experimental Evidence
Authors
Davison A; McDowell GS; Holden JM; Johnson HF; Koutsovoulos GD; Liu MM; Hulpiau P; Van Roy F; et al. ... show more
Abstract
While components of the pathway that establishes left-right asymmetry have been identified in diverse animals, from vertebrates to flies, it is striking that the genes involved in the first symmetry-breaking step remain wholly unknown in the most obviously chiral animals, the gastropod snails. Previously, research on snails was used to show that left-right signaling of Nodal, downstream of symmetry breaking, may be an ancestral feature of the Bilateria [1 and 2]. Here, we report that a disabling mutation in one copy of a tandemly duplicated, diaphanous-related formin is perfectly associated with symmetry breaking in the pond snail. This is supported by the observation that an anti-formin drug treatment converts dextral snail embryos to a sinistral phenocopy, and in frogs, drug inhibition or overexpression by microinjection of formin has a chirality-randomizing effect in early (pre-cilia) embryos. Contrary to expectations based on existing models [3, 4 and 5], we discovered asymmetric gene expression in 2- and 4-cell snail embryos, preceding morphological asymmetry. As the formin-actin filament has been shown to be part of an asymmetry-breaking switch in vitro [6 and 7], together these results are consistent with the view that animals with diverse body plans may derive their asymmetries from the same intracellular chiral elements [8].

Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
Loss-of-function mutation in a tandem-duplicated gene; functional redundancy may explain lack of deleterious pleiotropy; Recessive allele is due to Loss-of-function
YOUR FEEDBACK is welcome!