title: 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.
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.
authors.affiliation: DIPROVAL, Sezione di Allevamenti Zootecnici, University of Bologna, Via F.lli Rosselli 107, 42100 Reggio Emilia, Italy. luca.fontanesi@unibo.it <luca.fontanesi@unibo.it>
authors.forename: Luca
authors.initials: L
authors.lastname: Fontanesi
authors.forename: Lionel
authors.initials: L
authors.lastname: Forestier
authors.forename: Daniel
authors.initials: D
authors.lastname: Allain
authors.forename: Emilio
authors.initials: E
authors.lastname: Scotti
authors.forename: Francesca
authors.initials: F
authors.lastname: Beretti
authors.forename: Séverine
authors.initials: S
authors.lastname: Deretz-Picoulet
authors.forename: Elena
authors.initials: E
authors.lastname: Pecchioli
authors.forename: Cristiano
authors.initials: C
authors.lastname: Vernesi
authors.forename: Terence J
authors.initials: TJ
authors.lastname: Robinson
authors.forename: Jason L
authors.initials: JL
authors.lastname: Malaney
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Russo
authors.forename: Ahmad
authors.initials: A
authors.lastname: Oulmouden
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics / Q000378:metabolism; D000483:Alleles; D000818:Animals; D004252:DNA Mutational Analysis; D005838:Genotype; D006197:Hair / Q000378:metabolism*; D008543:Melanins / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D010802:Phylogeny; D010858:Pigmentation / Q000235:genetics / Q000502:physiology; D011817:Rabbits / Q000235:genetics / Q000378:metabolism*; D017422:Sequence Analysis, DNA
chemical_list: D054366:Agouti Signaling Protein; D008543:Melanins; C041877:eumelanin