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“银色”日本鹌鹑与 MITF 基因:因果突变、相关特征及与“蓝色”鸡羽的同源性。

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

机构信息

UMR 1313 INRA/AgroParisTech, Génétique animale et biologie intégrative GABI, F-78352, Jouy-en-Josas, France.

出版信息

BMC Genet. 2010 Feb 25;11:15. doi: 10.1186/1471-2156-11-15.

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.

CONCLUSION

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.

摘要

背景

MITF(小眼畸形相关转录因子)基因已在小鼠和各种脊椎动物中进行了研究,但在鸟类中,其变异及其相关影响尚未得到充分探索。本研究描述了导致日本鹌鹑(Coturnix japonica)“银色”羽毛颜色的 MITF 基因的因果突变 B,及其对生长和身体成分的相关影响,并测试了它与“蓝色”羽毛颜色突变 Bl 在 Gallus gallus 中的等位关系。

结果

半显性 B 突变是由 MITF 外显子 11 中的 2 个碱基缺失引起的提前终止密码子导致的。具有白色羽毛的纯合“白色”(B/B)鹌鹑的生长速度略低,体温较低,心脏较小,胸肌较轻,但腹部脂肪组织较多,而隐性纯合“野生型”(+/+)和杂合“银色”(B/+)鹌鹑。在 MITF 突变的小鼠(Mus musculus)中也观察到了类似的心脏和身体生长观察结果。通过将 Bl/+鸡的蓝色突变与 B/B 白色鹌鹑杂交产生具有白色羽毛的鸡鹌鹑杂种表明,这些突变是等位的。

结论

银色日本鹌鹑是研究 MITF 在鸟类和哺乳动物中的作用的有趣模型。使用分离出“蓝色”羽毛的鸡家族和分子数据进行进一步研究,将需要确认鸡的“蓝色”羽毛是否是 MITF 突变的结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1780/2841575/f3be22786316/1471-2156-11-15-1.jpg

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