OMIA:002061-345164 : Feather colour, light brown in Falco cherrug (Saker falcon)

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 115501 (trait) , 612271 (trait)

Single-gene trait/disorder: yes

Disease-related: no

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 Z NC_073720.1 (34117710..34127228) TYRP1 Homologene, Ensembl , NCBI gene

Variants

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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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
753 Feather colour, light brown TYRP1 complex rearrangement Naturally occurring variant 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002061-345164: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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
  • Changed by Frank Nicholas on 15 May 2020