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并且与赤鹿毛色表型相关的突变()。

and Mutations Associated with Coat Color Phenotypes in Fallow Deer ().

机构信息

Humboldt University Berlin, Thaer-Institute of Agricultural and Horticultural Sciences, 10099 Berlin, Germany.

Saxon State Office for Environment, Agriculture and Geology, Livestock Husbandry, 04886 Köllitsch, Germany.

出版信息

Genes (Basel). 2024 Aug 11;15(8):1055. doi: 10.3390/genes15081055.

Abstract

Four dominant coat color phenotypes are found in fallow deer (). Brown is the most common. Black, menil, and white occur with varying frequencies. In order to gain insights into the molecular genetic background of these phenotypes, 998 fallow animals (772 brown, 62 black, 126 menil, and 38 white) were examined for mutations in the , , , and genes. In , two mutations (ASIP-M-E2, located at the boundary from exon 2 to intron 2; and ASIP-M-E3, an InDel of five nucleotides) were found, leading to black fallow deer being either homozygous or heterozygous in combination. There were also two mutations found in . Whereby the mutation MC1R-M1 (leucine to proline, L48P) homozygous leads to a white coat, while the mutation MC1R-M2 (glycine to aspartic acid, G236D) homozygous is associated with the menil phenotype. When both mutations occur together in a heterozygous character state, it results in a menil coat. Since the mutations in the two genes are only present alternatively, 36 genotypes can be identified that form color clusters to which all animals can be assigned. No mutations were found in the and genes. Our investigations demonstrate that the four dominant coat colors in fallow deer can be explained by and mutations only.

摘要

四种主要的毛色表型在黇鹿()中被发现。棕色是最常见的。黑色、梅尼尔色和白色的出现频率则有所不同。为了深入了解这些毛色表型的分子遗传背景,对 998 只黇鹿(772 只棕色、62 只黑色、126 只梅尼尔色和 38 只白色)进行了检测,以寻找 、 、 和 基因中的突变。在 基因中,发现了两种突变(ASIP-M-E2,位于外显子 2 到内含子 2 的边界;以及 ASIP-M-E3,五核苷酸的插入缺失),导致黑色黇鹿要么是纯合子要么是杂合子。在 基因中也发现了两种突变。突变 MC1R-M1(亮氨酸到脯氨酸,L48P)纯合导致白色皮毛,而突变 MC1R-M2(甘氨酸到天冬氨酸,G236D)纯合与梅尼尔表型相关。当这两种突变以杂合特征状态同时存在时,会导致梅尼尔毛色。由于这两个基因中的突变仅存在交替,因此可以识别出 36 种基因型,这些基因型形成颜色聚类,所有动物都可以被分配到这些聚类中。在 和 基因中未发现突变。我们的研究表明,黇鹿的四种主要毛色仅可以由 基因和 基因突变来解释。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c99a/11353312/1795e80d4c37/genes-15-01055-g001.jpg

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