珍珠鸡中的黑化现象与 MC1R 基因中苯丙氨酸 256 的缺失有关。

Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the MC1R gene.

机构信息

Departament de Biologia, Universitat de Girona, Girona, Catalonia, Spain.

出版信息

Anim Genet. 2010 Dec;41(6):656-8. doi: 10.1111/j.1365-2052.2010.02056.x.

DOI:10.1111/j.1365-2052.2010.02056.x

PMID:20477788

Abstract

We have characterized a deletion in the MC1R gene causing the loss of one amino acid (p.Phe256del), which is perfectly associated with melanism in guinea fowl (Numida meleagris). Co-segregation of the p.Phe256del with melanism was confirmed in 25 offspring born from a cross of two heterozygote birds; therefore we suggest that this mutation is responsible for the black phenotype. Interestingly, this is the first case of recessive melanism linked to MC1R.

摘要

我们已经确定了 MC1R 基因中的一个缺失，导致一个氨基酸（p.Phe256del）的缺失，这与珍珠鸡（Numida meleagris）的黑化现象完全相关。在两个杂合子鸟类的杂交后代中，25 只出生的后代中 p.Phe256del 与黑化现象共分离；因此，我们认为这种突变是导致黑色表型的原因。有趣的是，这是第一个与 MC1R 相关的隐性黑化病例。