The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage

Abstract

BackgroundThe 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.ResultsThe 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.ConclusionThe "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.

Insertion–deletions in a FADS2 intron 1 conserved regulatory locus control expression of fatty acid desaturases 1 and 2 and modulate response to simvastatin

“…Such a mechanism would be analogous to previous observations. For instance, an INDEL variant within intron 16 of angiotensin-converting enzyme ( ACE ) accounted for 47% of variance in serum ACE activity [29] and a 14 bp INDEL variant within intron 2 of NCX1 in an East European population was associated with increased risk for coronary artery disease [30]. …”

PRODUCTIVE PERFORMANCE AND MOLECULAR GENETIC CHARACTERIZATION OF BROWN AND WHITE JAPANESE QUAIL GENOTYPES USING RAPD AND ISSRs-PCR MARKERS

“…Also, the range of BW was significantly smaller for the white quail with lower growth until maturity was reported by Minvielle et al (2010). On the opposite, white plumage quails significantly exceeded brown quails in their live BW at 1, 14 and 28 days of age (Jassim et al, 2006).…”

Identification of Genes Related to White and Black Plumage Formation by RNA-Seq from White and Black Feather Bulbs in Ducks

“…Higher expression of Mitf , which is associated with hyperpigmentation, was observed in Silky Fowl [9]. A stop codon caused by a 2-bp deletion in exon 11 of Mitf was found to be responsible for the “silver” plumage color in Japanese quail [10]. Mitf expression can be regulated by Scf - Kit signaling and can itself activate the transcription of the Tyr genes [11], [12].…”