ArticlePloS one2013
Two-exon skipping within MLPH is associated with coat color dilution in rabbits.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 35 citations in OpenAlex.
- Melanophilin regulates dendritogenesis in melanocytes for feather pigmentation.Communications biology · 2024Article
- Melanophilin Polymorphism in Ferrets of Different Color.Doklady. Biochemistry and biophysics · 2023Article
- Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin.Biomolecules & therapeutics · 2023Article
- A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (microPublication biology · 2023Article
- Association analysis of melanophilin (Archives animal breeding · 2023Article
- Analysis ofAnimals : an open access journal from MDPI · 2021Article
- A ThirdGenes · 2020Article
- A Stop-Gain Mutation withinGenes · 2020Article
- Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits.Frontiers in genetics · 2020Article
- Transcriptome Analysis of the Breast Muscle of Xichuan Black-Bone Chickens Under Tyrosine Supplementation Revealed the Mechanism of Tyrosine-Induced Melanin Deposition.Frontiers in genetics · 2019Article
- New Insights into the Melanophilin (Genes · 2018Article
- Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.Human molecular genetics · 2015Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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