GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002122
Main curator
Santos
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
wildtype coloration
Trait State in Taxon B
albino type
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
channel catfish
Synonyms
Silurus punctatus; channel catfish; Ictalurus punctatus (Rafinesque, 1818); Silurus punctatus Rafinesque, 1818; Ictalurus punetaus; Ietalurus punetaus; Letalurus punetaus
Rank
species
Lineage
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uteleostomi; Actinopterygii; Actinopteri; Neopterygii; Teleostei; Osteoglossocephalai; Clupeocephala; Otomorpha; Ostariophysi; Otophysi; Characiphysae; Siluriformes; Siluroidei; Ictaluridae; Ictalurus
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
channel catfish
Synonyms
Silurus punctatus; channel catfish; Ictalurus punctatus (Rafinesque, 1818); Silurus punctatus Rafinesque, 1818; Ictalurus punetaus; Ietalurus punetaus; Letalurus punetaus
Rank
species
Lineage
Show more ...
uteleostomi; Actinopterygii; Actinopteri; Neopterygii; Teleostei; Osteoglossocephalai; Clupeocephala; Otomorpha; Ostariophysi; Otophysi; Characiphysae; Siluriformes; Siluroidei; Ictaluridae; Ictalurus
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Hps4
Synonyms
le; BLOC-3; AU040608; mKIAA1667; 2010205O06Rik; C130020P05Rik; Le
String
Sequence Similarities
-
GO - Molecular Function
GO:0046983 : protein dimerization activity
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GO - Biological Process
GO:0007596 : blood coagulation
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GO - Cellular Component
GO:0005737 : cytoplasm
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
-
Molecular Details of the Mutation
A 99‐bp deletion was identified spanning intron 2 and exon 3 junction of the Hps4 gene
Experimental Evidence
Main Reference
Authors
Li Y; Geng X; Bao L; Elaswad A; Huggins KW; Dunham R; Liu Z
Abstract
Albinism is caused by a series of genetic abnormalities leading to reduction of melanin production. Albinism is quite frequent in catfish, but the causative gene and the molecular basis were unknown. In this study, we conducted a genome-wide association study (GWAS) using the 250 K SNP array. The GWAS analysis allowed mapping of the albino phenotype in the Hermansky-Pudlak syndrome 4 (Hps4) gene, which is known to be involved in melanosome biosynthesis. Sequencing analysis revealed that a 99-bp deletion was present in all analyzed albino catfish at the intron 2 and exon 3 junction. This deletion led to the skipping of the entire exon 3 which was confirmed by RT-PCR. Therefore, Hps4 was determined to be the candidate gene of the catfish albinism.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
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