OMIA 000201-9685 : Coat colour, agouti in Felis catus

In other species: horse , cattle , meadow voles , red fox , pig , sheep , rabbit , dog , gray wolf , coyote , goat , Eurasian water mole , Northern mole vole , North American deer mouse , alpaca , leopard , Asiatic golden cat , leopard cat , ass , impala , Colocolo , Kodkod , Geoffroy's cat , Arabian camel

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611742

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2003

Cross-species summary: This locus, ASIP, encodes the agouti signalling protein, a peptide antagonist of the melanocyte-stimulating hormone receptor (MC1R), which is the product of the extension locus.

Molecular basis: By cloning and sequencing a very likely positional candidate gene (based on the key role of the ASIP in pigmentation, and its close linkage with melanism in cats), Eizirik et al. (2003) reported that "a 2 bp deletion in the ASIP gene [at nucleotide positions 123–124] specifies black coloration in domestic cats". The deletion "induces a frame shift in the inferred protein, predicting a complete loss of the C-terminal active domain". This is the classic recessive non-agouti allele (a).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ASIP agouti signaling protein Felis catus A3 NC_018725.3 (25150943..25082232) ASIP 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
Coat colour, non-agouti (black) ASIP deletion, small (<=20) "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" 2003 12620197

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.
2003 Eizirik, E., Yuhki, N., Johnson, W.E., Menotti-Raymond, M., Hannah, S.S., O'Brien, S.J. :
Molecular genetics and evolution of melanism in the cat family Current Biology 13:448-53, 2003. Pubmed reference: 12620197.
2000 Christensen, A.C. :
Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464.
1987 Wagner, A., Wolsan, M. :
Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716.
1963 Todd, N.B. :
Independent assortment of Manx and three coat colour mutants in the domestic cat Journal of Heredity 54:266-272, 1963. Pubmed reference: 14098315.

Edit History


  • Created by Frank Nicholas on 17 Feb 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012
  • Changed by Frank Nicholas on 03 Oct 2014