Horecka Beata, Wojciechowski Witold, Drabik Kamil, Wengerska Karolina, Batkowska Justyna
Institute of Biological Basis of Animal Production, University of Life Sciences in Lublin, 20-950 Lublin, Poland.
Animals (Basel). 2024 Aug 29;14(17):2507. doi: 10.3390/ani14172507.
Plumage color is one of the most important traits characterizing chicken breeds. Black-boned chickens constitute a specific group of breeds with a unique phenotype. One of the representatives is the Indonesian Ayam Cemani. The extraordinary black phenotype results from a specific chromosomal rearrangement. We used complete CDS of crucial color-related gene , which plays a key role in melanin distribution but has not been previously studied in Ayam Cemani. It turned out that Ayam Cemani individuals possess a newly found non-synonymous mutation G355A resulting in amino acid substitution D119N. Together with the presence of G274A (E92K), the new missense variant enabled us to distinguish a new extended black allele at the E locus. All of the investigated birds were heterozygous in terms of the new mutation. Previous studies and our own results indicate a high level of genetic variation within the gene within and between chicken breeds. Besides the key mutations that make it possible to distinguish particular major alleles, there are also numerous substitutions that give haplotypes more characteristics for individual breeds.
羽毛颜色是表征鸡品种的最重要特征之一。乌骨鸡构成了具有独特表型的特定品种群体。其中一个代表品种是印度尼西亚的阿亚姆·塞马妮鸡。这种非凡的黑色表型源于特定的染色体重排。我们使用了关键颜色相关基因的完整编码序列（CDS），该基因在黑色素分布中起关键作用，但此前尚未在阿亚姆·塞马妮鸡中进行过研究。结果发现，阿亚姆·塞马妮鸡个体具有新发现的非同义突变G355A，导致氨基酸替换D119N。与G274A（E92K）的存在一起，这个新的错义变体使我们能够在E位点区分出一个新的扩展黑色等位基因。所有被研究的鸟类在新突变方面都是杂合的。先前的研究和我们自己的结果表明，该基因在鸡品种内部和品种之间存在高水平的遗传变异。除了能够区分特定主要等位基因的关键突变外，还有许多替换，这些替换赋予单倍型更多特定品种的特征。
