OMIA 001259-9031 : Feather colour, chocolate in Gallus gallus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203290

Mendelian trait/disorder: yes

Mode of inheritance: Z-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2018

Species-specific symbol: choc

Inheritance: Carefoot (1996) showed that this trait is Z-linked recessive. This was confirmed independently by Li et al. (2018).

Mapping: Li et al. (2018) linkage-mapped the choc trait to "a 3.57‐Mb region defined by rs16106682 (28.27 Mb) and rs14778077 (31.84 Mb) on chromosome Z" that includes the TYRP1 gene.

Molecular basis: Li et al. (2018) sequenced the positional (Z-linked) candidate gene TYRP1 and discovered that "The only unique sequence polymorphism found in chocolate animals was a missense variation with a G to T change at position 30,830,367 bp (c.640C > A for TYRP1 coding sequence) leading to a His214Asn change in TYRP1. . . . Genotyping this SNP (ChrZ:30,830,367 bp) in the entire VT mapping population, in the 77 BC1 females from INRA (41 chocolate feathered and 36 black feathered), and in 428 non‐chocolate chickens from 118 different stocks or populations of experimental lines . . . , showed its complete association with choc, consistent with the hypothesis that it is the causal mutation for the chocolate phenotype."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 tyrosinase-related protein 1 Gallus gallus Z NC_006127.5 (30833822..30823102) TYRP1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Orpington Wyandotte Chocolate feathered TYRP1 missense galGal5 Z g.30830367C>A c.640C>A p.His214Asn 2018 30457703

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Li, J., Bed'hom, B., Marthey, S., Valade, M., Dureux, A., Moroldo, M., Péchoux, C., Coville, J.L., Gourichon, D., Vieaud, A., Dorshorst, B., Andersson, L., Tixier-Boichard, M., Li, J., Bed'hom, B., Marthey, S., Valade, M., Dureux, A., Moroldo, M., Péchoux, C., Coville, J.L., Gourichon, D., Vieaud, A., Dorshorst, B., Andersson, L., Tixier-Boichard, M., Li, J., Bed'hom, B., Marthey, S., Valade, M., Dureux, A., Moroldo, M., Péchoux, C., Coville, J.L., Gourichon, D., Vieaud, A., Dorshorst, B., Andersson, L., Tixier-Boichard, M. :
A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome structure. Pigment Cell Melanoma Res :, 2018. Pubmed reference: 30457703. DOI: 10.1111/pcmr.12753.
1996 Carefoot, W.C. :
Chocolate - a sex-linked recessive plumage colour mutant of the domestic fowl British Poultry Science 37:867-868, 1996. Pubmed reference: 8894230. DOI: 10.1080/00071669608417915.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 26 Mar 2019
  • Changed by Frank Nicholas on 27 Mar 2019