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.
Highlights
The MITF gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds
We intended to locate the region in the coding sequence which is responsible for the “silver” plumage colour (B/+) in the Japanese quail
We studied the phenotypic consequences of the mutation by comparing the three genotypes (B/B, B/+, +/+) for several quantitative traits related to growth, food intake, metabolism and body composition
Summary
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. Studies on mice have shown the existence of many alleles at this locus, and semi dominant mutations like MitfMi-wh produce heterozygous mice with a diluted grey coat colour and homozygous mice which are completely white [4] These mutations have detrimental effects on melanocytes and lead to decreased pigmentation and various defects which have been extensively reported in mice but little investigated in other animal species [5]. We tested the allelism between the silver (B) and blue (Bl) mutations by producing chicken-quail hybrids between homozygous B/B white female quail and heterozygous Bl/+ cocks
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