GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000746
Main curator
Courtier
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait
Trait State in Taxon A
pigmented surface fish
Trait State in Taxon B
unpigmented fish - Pachon cave
Trait #2
Trait Category
Trait
Trait State in Taxon A
pigmented surface fish
Trait State in Taxon B
unpigmented fish - Pachon cave
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
Mexican tetra
Synonyms
Mexican tetra; blind cave fish; Astyanax mexicanus (De Filippi, 1853)
Rank
species
Lineage
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eopterygii; Teleostei; Osteoglossocephalai; Clupeocephala; Otomorpha; Ostariophysi; Otophysi; Characiphysae; Characiformes; Characoidei; Characidae; Characidae incertae sedis; Astyanax clade; Astyanax
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
Mexican tetra
Synonyms
Mexican tetra; blind cave fish; Astyanax mexicanus (De Filippi, 1853)
Rank
species
Lineage
Show more ...
eopterygii; Teleostei; Osteoglossocephalai; Clupeocephala; Otomorpha; Ostariophysi; Otophysi; Characiphysae; Characiformes; Characoidei; Characidae; Characidae incertae sedis; Astyanax clade; Astyanax
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Astyanax mexicanus - Pachon cave
GENOTYPIC CHANGE
Generic Gene Name
Oca2
Synonyms
p; D7Nic1; p<cas>; D7H15S12; D7Icr28RN; P
String
Sequence Similarities
Belongs to the CitM (TC 2.A.11) transporter family.
GO - Molecular Function
-
GO - Biological Process
GO:0055085 : transmembrane transport
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GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
Deletion Size
-
Molecular Details of the Mutation
Almost complete deletion of exon 24; + 2 a.a subsitutions at conserved positions - the two point mutations do not drastically affect the function of OCA2 in cell lines suggesting that the exon 24 deletion is the mutation that causes albinism in the Pachón population
Experimental Evidence
Main Reference
Authors
Protas ME; Hersey C; Kochanek D; Zhou Y; Wilkens H; Jeffery WR; Zon LI; Borowsky R; et al.
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Abstract
The genetic basis of vertebrate morphological evolution has traditionally been very difficult to examine in naturally occurring populations. Here we describe the generation of a genome-wide linkage map to allow quantitative trait analysis of evolutionarily derived morphologies in the Mexican cave tetra, a species that has, in a series of independent caves, repeatedly evolved specialized characteristics adapted to a unique and well-studied ecological environment. We focused on the trait of albinism and discovered that it is linked to Oca2, a known pigmentation gene, in two cave populations. We found different deletions in Oca2 in each population and, using a cell-based assay, showed that both cause loss of function of the corresponding protein, OCA2. Thus, the two cave populations evolved albinism independently, through similar mutational events.
EXTERNAL LINKS
COMMENTS
@Parallelism @Pleiotropy https://omia.org/OMIA002130/7994/
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