Early and late feathering in turkey and chicken: same gene but different mutations

• Published in: Genetics selection evolution (Paris) 2018-03, Vol.50 (1), p.7-7, Article 7
• Main Authors: Derks, Martijn F L, Herrero-Medrano, Juan M, Crooijmans, Richard P M A, Vereijken, Addie, Long, Julie A, Megens, Hendrik-Jan, Groenen, Martien A M
• Format: Article
• Language: English
• Subjects: Age; Alleles; Amino acids; Analysis; Animal Breeding and Genetics; Animal Breeding and Genomics; Animal husbandry; Chickens; Chromosomes; Fokkerij en Genetica; Fokkerij en Genomica; Frameshift mutation; Gender identity; Gene deletion; Gene mutations; Genes; Genetic aspects; Genomes; Genotype & phenotype; Leerstoelgroep Fokkerij en genetica; Life Sciences; Mutation; Nonsense mutation; Phenotypes; Population; Poultry; Prolactin; Proteins; Receptors; Sex; Sex linkage; Software; Stop codon; Turkeys; WIAS
• ISSN: 1297-9686; 0999-193X; 1297-9686
• DOI: 10.1186/s12711-018-0380-3

Sex-linked slow (SF) and fast (FF) feathering rates at hatch have been widely used in poultry breeding for autosexing at hatch. In chicken, the sex-linked K (SF) and k+ (FF) alleles are responsible for the feathering rate phenotype. Allele K is dominant and a partial duplication of the prolactin receptor gene has been identified as the causal mutation. Interestingly, some domesticated turkey lines exhibit similar slow- and fast-feathering phenotypes, but the underlying genetic components and causal mutation have never been investigated. In this study, our aim was to investigate the molecular basis of feathering rate at hatch in domestic turkey. We performed a sequence-based case-control association study and detected a genomic region on chromosome Z, which is statistically associated with rate of feathering at hatch in turkey. We identified a 5-bp frameshift deletion in the prolactin receptor (PRLR) gene that is responsible for slow feathering at hatch. All female cases (SF turkeys) were hemizygous for this deletion, while 188 controls (FF turkeys) were hemizygous or homozygous for the reference allele. This frameshift mutation introduces a premature stop codon and six novel amino acids (AA), which results in a truncated PRLR protein that lacks 98 C-terminal AA. We present the causal mutation for feathering rate in turkey that causes a partial C-terminal loss of the prolactin receptor, and this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken.