title: The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage.
abstract: BACKGROUND
  The MITF (microphthalmia-associated transcription factor) gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds. The present study describes the causal mutation B at the MITF gene responsible for the "silver" plumage colour in the Japanese quail (Coturnix japonica), and its associated effects on growth and body composition, and tests its allelism with the "blue" plumage colour mutation Bl in Gallus gallus.
  
  
  RESULTS
  The semi dominant B mutation results from a premature stop codon caused by a 2 bp deletion in exon 11 of MITF. Homozygous "white" (B/B) quail which have a white plumage also show a slightly lower growth, lower body temperature, smaller heart, and lighter pectoralis muscles but more abdominal adipose tissue than the recessive homozygous "wild-type" (+/+) and heterozygous "silver" (B/+) quail. Similar observations on cardiac and body growth were made on mice (Mus musculus) homozygous for mutations at MITF. The production of chicken-quail hybrids with a white plumage obtained by crossing Bl/+ chicken heterozygous for the blue mutation with B/B white quail indicated that the mutations were allelic.
  
  
  CONCLUSIONS
  The "silver" Japanese quail is an interesting model for the comparative study of the effects of MITF in birds and mammals. Further investigation using a chicken family segregating for the "blue" plumage and molecular data will be needed to confirm if the "blue" plumage in chicken results from a mutation in MITF.
authors.affiliation: UMR 1313 INRA/AgroParisTech, Génétique animale et biologie intégrative GABI, F-78352, Jouy-en-Josas, France. francis.minvielle@jouy.inra.fr
authors.forename: Francis
authors.initials: F
authors.lastname: Minvielle
authors.forename: Bertrand
authors.initials: B
authors.lastname: Bed'hom
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Coville
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Ito
authors.forename: Miho
authors.initials: M
authors.lastname: Inoue-Murayama
authors.forename: David
authors.initials: D
authors.lastname: Gourichon
mesh_terms: D000483:Alleles; D000818:Animals; D002645:Chickens / Q000235:genetics* / Q000502:physiology; D002678:Chimera; D018389:Codon, Nonsense; D003370:Coturnix / Q000235:genetics* / Q000502:physiology; D004252:DNA Mutational Analysis; D005241:Feathers / Q000737:chemistry; D005260:Female; D005838:Genotype; D006720:Homozygote; D008297:Male; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018389:Codon, Nonsense; D051739:Microphthalmia-Associated Transcription Factor