Article
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable for a distinctive coat color in Belgian Blue cattle.
Animal genetics - 1 Feb 2016
Li Wanbo, Sartelet Arnaud, Tamma Nico, Coppieters Wouter, Georges Michel, Charlier Carole
Abstract excerpt
In the course of a reverse genetic screen in the Belgian Blue cattle breed, we uncovered a 10-bp deletion (c.87_96del) in the first coding exon of the melanophilin gene (MLPH), which introduces a premature stop codon (p.Glu32Aspfs*1) in the same exon, truncating 94% of the protein. Recessive damaging mutations in the MLPH gene are well known to cause skin, hair, coat or plumage color dilution phenotypes in...
Topics
- Adaptor Proteins, Signal Transducing
- Animals
- Cattle
- Frameshift Mutation
- Genotype
- Hair Color
- Mutation, Missense
- Phenotype
- Pigmentation
- Reverse Genetics
- Sequence Deletion