OMIA 002061-345164 : Feather colour, light brown in Falco cherrug

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203290 , 612271

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2016

Molecular basis: Cortimiglia et al. (2017): the likely causal variant involves two mutations, namely c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift

change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYRP1 tyrosinase-related protein 1 Falco cherrug - no genomic information (-..-) TYRP1 Homologene, Ensembl, NCBI gene

Variants

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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
Feather colour, light brown TYRP1 complex rearrangement c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids. 2017 27611661

Reference


2017 Cortimiglia, C., Castiglioni, B., Pizzi, F., Stella, A., Capra, E. :
Involvement of tyrosinase-related protein 1 gene in the light brown plumage phenotype of Falco cherrug. Anim Genet 48:125-126, 2017. Pubmed reference: 27611661. DOI: 10.1111/age.12506.

Edit History


  • Created by Frank Nicholas on 19 Oct 2016
  • Changed by Frank Nicholas on 02 Mar 2017