Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic analyses and identification of the causative mutation of the nonagouti black coat colour

Genomics. 2010 Mar;95(3):166-75. doi: 10.1016/j.ygeno.2009.11.003. Epub 2009 Dec 11.

Abstract

The agouti locus encodes the agouti signalling protein (ASIP) which is involved in determining the switch from eumelanin to pheomelanin synthesis in melanocytes. In the domestic rabbit (Oryctolagus cuniculus) early studies indicated three alleles at this locus: A, light-bellied agouti (wild type); a(t), black and tan; a, black nonagouti. We characterized the rabbit ASIP gene and identified the causative mutation (an insertion in exon 2) of the black nonagouti allele whose frequency was evaluated in 31 breeds. Phylogenetic analysis of ASIP sequences from Oryctolagus and 9 other species of the family Leporidae placed Oryctolagus as sister species to Pentalagus and Bunolagus. Transcription analysis in wild type agouti rabbits revealed the presence of two major transcripts with different 5'-untranslated regions having ventral or dorsal skin specific expression. ASIP gene transcripts were also detected in all examined rabbit tissues distinguishing the rabbit expression pattern from what was observed in wild type mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agouti Signaling Protein* / genetics
  • Agouti Signaling Protein* / metabolism
  • Alleles
  • Animals
  • DNA Mutational Analysis
  • Genotype
  • Hair / metabolism*
  • Melanins / genetics
  • Melanins / metabolism
  • Molecular Sequence Data
  • Mutation
  • Phylogeny
  • Pigmentation* / genetics
  • Pigmentation* / physiology
  • Rabbits / genetics
  • Rabbits / metabolism*
  • Sequence Analysis, DNA

Substances

  • Agouti Signaling Protein
  • Melanins
  • eumelanin

Associated data

  • GENBANK/AM748787
  • GENBANK/AM748788
  • GENBANK/FN547135
  • GENBANK/FN547136
  • GENBANK/FN547137
  • GENBANK/FN547138
  • GENBANK/FN547139
  • GENBANK/FN547140
  • GENBANK/FN547141
  • GENBANK/FN547142
  • GENBANK/FN547143
  • GENBANK/FN547144
  • GENBANK/FN547145
  • GENBANK/FN547146
  • GENBANK/FN547147
  • GENBANK/FN547148
  • GENBANK/FN547149
  • GENBANK/FN547150