title: The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature.
abstract: BACKGROUND
  The lavender phenotype in quail is a dilution of both eumelanin and phaeomelanin in feathers that produces a blue-grey colour on a wild-type feather pattern background. It has been previously demonstrated by intergeneric hybridization that the lavender mutation in quail is homologous to the same phenotype in chicken, which is caused by a single base-pair change in exon 1 of MLPH.
  
  
  RESULTS
  In this study, we have shown that a mutation of MLPH is also associated with feather colour dilution in quail, but that the mutational event is extremely different. In this species, the lavender phenotype is associated with a non-lethal complex mutation involving three consecutive overlapping chromosomal changes (two inversions and one deletion) that have consequences on the genomic organization of four genes (MLPH and the neighbouring PRLH, RAB17 and LRRFIP1). The deletion of PRLH has no effect on the level of circulating prolactin. Lavender birds have lighter body weight, lower body temperature and increased feed consumption and residual feed intake than wild-type plumage quail, indicating that this complex mutation is affecting the metabolism and the regulation of homeothermy.
  
  
  CONCLUSIONS
  An extensive overlapping chromosome rearrangement was associated with a non-pathological Mendelian trait and minor, non deleterious effects in the lavender Japanese quail which is a natural knockout for PRLH.
authors.affiliation: UMR 1313 INRA/AgroParisTech, Génétique Animale et Biologie Intégrative GABI, 78352 Jouy-en-Josas, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Bed'hom
authors.forename: Mohsen
authors.initials: M
authors.lastname: Vaez
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Coville
authors.forename: David
authors.initials: D
authors.lastname: Gourichon
authors.forename: Olivier
authors.initials: O
authors.lastname: Chastel
authors.forename: Sarah
authors.initials: S
authors.lastname: Follett
authors.forename: Terry
authors.initials: T
authors.lastname: Burke
authors.forename: Francis
authors.initials: F
authors.lastname: Minvielle
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000818:Animals; D030161:Avian Proteins / Q000235:genetics; D001831:Body Temperature; D003370:Coturnix / Q000235:genetics* / Q000254:growth & development; D005241:Feathers; D005247:Feeding Behavior; D005260:Female; D008297:Male; D009154:Mutation; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D030161:Avian Proteins