GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000644
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Felis catus
Trait State in Taxon B
Felis catus -"dilute"
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
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thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ...
thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Felis catus -"dilute"
GENOTYPIC CHANGE
Generic Gene Name
Mlph
Synonyms
ln; l1Rk3; Slac-2a; AW228792; D1Wsu84e; l(1)-3Rk; 2210418F23Rik; 5031433I09Rik; Ln; Slac2a
String
Sequence Similarities
-
GO - Molecular Function
GO:0046872 : metal ion binding
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GO - Biological Process
GO:0043473 : pigmentation
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GO - Cellular Component
GO:0015629 : actin cytoskeleton
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Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
1bp deletion resulting in frameshift c.83delT
Experimental Evidence
Main Reference
Authors
Ishida Y; David VA; Eizirik E; Schäffer AA; Neelam BA; Roelke ME; Hannah SS; O'Brien SJ; et al.
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Abstract
Three proteins have been described in humans and mice as being essential for even distribution, transport, and translocation of pigment granules, with defects in these molecules giving rise to lighter skin/coat color. The dilute phenotype in domestic cats affects both eumelanin and phaeomelanin pigment pathways; for example, black pigmentation combined with dilute appears gray and orange pigments appear cream. The dilute pigmentation segregates as a fully penetrant, autosomal recessive trait. We conducted classical linkage mapping with microsatellites in a large multigeneration pedigree of domestic cats and detected tight linkage for dilute on cat chromosome C1 (theta=0.08, LOD=10.81). Fine-mapping identified a genomic region exhibiting conserved synteny to human chromosome 2, which included one of the three dilute candidate genes, melanophilin (MLPH). Sequence analysis in dilute cats identified a single base pair deletion in exon 2 of MLPH transcripts that introduces a stop codon 11 amino acids downstream, resulting in the truncation of the bulk of the MLPH protein. The occurrence of this homozygous variant in 97 unrelated dilute cats representing 26 cat breeds and random-bred cats, along with 89 unrelated wild-type cats representing 29 breeds and random-bred cats, supports the finding that dilute is caused by this single mutation in MLPH (p<0.00001). Single-nucleotide polymorphism analyses in dilute individuals identified a single haplotype in dilute cats, suggesting that a single mutation event in MLPH gave rise to dilute in domestic cats.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@Parallelism https://omia.org/OMIA000031/9685/
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