GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000649
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Oryctolagus cuniculus
Trait State in Taxon B
Oryctolagus cuniculus - dilute breeds
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
-
Rank
genus
Lineage
Show more ... Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
-
Rank
genus
Lineage
Show more ... Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Lagomorpha; Leporidae
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Oryctolagus cuniculus - dilute breeds
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
c.111-5C>A (exon skipping resulting in frameshift and truncated protein)
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Lehner S; Gähle M; Dierks C; Stelter R; Gerber J; Brehm R; Distl O
Abstract
Coat color dilution turns black coat color to blue and red color to cream and is a characteristic in many mammalian species. Matings among Netherland Dwarf, Loh, and Lionhead Dwarf rabbits over two generations gave evidence for a monogenic autosomal recessive inheritance of coat colour dilution. Histological analyses showed non-uniformly distributed, large, agglomerating melanin granules in the hair bulbs of coat color diluted rabbits. We sequenced the cDNA of MLPH in two dilute and one black rabbit for polymorphism detection. In both color diluted rabbits, skipping of exons 3 and 4 was present resulting in altered amino acids at p.QGL[37-39]QWA and a premature stop codon at p.K40*. Sequencing of genomic DNA revealed a c.111-5C>A splice acceptor mutation within the polypyrimidine tract of intron 2 within MLPH. This mutation presumably causes skipping of exons 3 and 4. In 14/15 dilute rabbits, the c.111-5C>A mutation was homozygous and in a further dilute rabbit, heterozygous and in combination with a homozygous frame shift mutation within exon 6 (c.585delG). In conclusion, our results demonstrated a colour dilution associated MLPH splice variant causing a strongly truncated protein (p.Q37QfsX4). An involvement of further MLPH-associated mutations needs further investigations.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
1
COMMENTS
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