GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002314
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
White whale (single wild individual)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
humpback whale
Synonyms
humpback whale; Megaptera novaeanagliae
Rank
species
Lineage
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stomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Cetacea; Mysticeti; Balaenopteridae; Megaptera
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
humpback whale
Synonyms
humpback whale; Megaptera novaeanagliae
Rank
species
Lineage
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stomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Cetacea; Mysticeti; Balaenopteridae; Megaptera
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Tyr
Synonyms
c; Oca1; skc35; albino
String
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity
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GO - Biological Process
GO:0042438 : melanin biosynthetic process
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GO - Cellular Component
GO:0016021 : integral component of membrane
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UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
(264 del C) at codon 88
Experimental Evidence
Main Reference
Authors
Polanowski AM; Robinson-Laverick SM; Paton D; Jarman SN
Abstract
Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mammalian species worldwide. Tyrosinase is the key enzyme in melanin biosynthesis, and mutations in the tyrosinase gene result in OCA1A. We examined sequence variation at exon 1 of the tyrosinase gene in 66 humpback whale samples collected from the east coast of Australia, including an anomalously white humpback whale known as "Migaloo." We identified 3 novel variants, including a cytosine deletion that results in a premature stop codon in exon 1. The deletion truncates the tyrosinase protein including the putative catalytic domains that are essential for tyrosinase enzymatic activity. Migaloo was homozygous for this deletion, suggesting that the albino phenotype is a consequence of inactive tyrosinase caused by the frameshift in the tyrosinase gene.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA000202/9773/
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