In other species: helmeted guineafowl , chicken

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 176761 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked

Disease-related: no

Key variant known: yes

Year key variant first reported: 2018

Species-specific description: Derks et al. (2018) suspect that the form of Z-linked feathering described in this OMIA entry "differs from a late feathering phenotype that was described in turkey by Asmundson and Abbott [1960]"

History: This trait was first reported by Zakrzewska and Savage (1997)

Inheritance: As in chickens, the locus is Z-linked, and slow-feathering is dominant to fast or rapid feathering (the wild type) (Zakrzewska and Savage, 1997)

Mapping: Via a GWAS of SNPs called from whole-genome sequencing of 12 slow-feathering and 12 fast-feathering turkeys from a commercial line, Derks et al. (2018) mapped this trait to "the short arm of the Z chromosome between 7.95 and 9.79 Mb"

Molecular basis: Derks et al. (2018) "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 . . . this truncated PRLR protein is strikingly similar to the protein encoded by the slow feathering K allele in chicken." (see OMIA:000380-9031)

Associated gene: