Chessa S, Rignanese D, Küpper J, Pagnacco G, Erhardt G, Caroli A
Dipartimento di Scienze e Tecnologie Veterinarie per la Sicurezza Alimentare, Università degli Studi di Milano, Via Trentacoste 2, Milano, 20134 Italy.
J Dairy Sci. 2008 Nov;91(11):4433-6. doi: 10.3168/jds.2008-1228.
Several single nucleotide polymorphisms have been identified in the goat milk casein genes, most of them modifying the amino acid sequence of the coded protein. At least 9 variants have been found in goat beta-CN (CSN2); 6 of them were characterized at the DNA level (A, A1, C, E, 0, and 0'), whereas the other 3 variants were described only at the protein level. The recently identified silent A1 allele is characterized by a C-->T transition at the 180th nucleotide of the ninth exon. In the present work, typing results from different breeds (3 Italian, 3 German, and a composite of African breeds for a total of 335 samples) demonstrated that the same mutation is carried by the CSN2C allele. In addition, the T nucleotide at the 180th nucleotide of the ninth exon was always associated with CSN2C in all the breeds analyzed. Thus, another silent allele occurs at goat CSN2 and can be named CSN2C1. The much wider distribution of C1 with respect to the A1 allele indicates that the single nucleotide polymorphisms characterizing the silent mutation originated from CSN2C. A method for the identification of this allele simultaneously with 5 of the 6 DNA-characterized alleles is also proposed. The mutation involved codifies for the same protein of the C allele; nevertheless, its location in the 3' untranslated region of the gene might affect the specific casein expression.
在山羊乳酪蛋白基因中已鉴定出多个单核苷酸多态性,其中大多数改变了编码蛋白的氨基酸序列。在山羊β-酪蛋白(CSN2)中已发现至少9种变体;其中6种在DNA水平上得到了表征(A、A1、C、E、0和0'),而其他3种变体仅在蛋白质水平上有描述。最近鉴定出的沉默A1等位基因的特征是第九外显子第180个核苷酸处发生C→T转换。在本研究中,来自不同品种(3个意大利品种、3个德国品种和一个非洲品种的杂交品种,共335个样本)的分型结果表明,CSN2C等位基因携带相同的突变。此外,在所有分析的品种中,第九外显子第180个核苷酸处的T核苷酸总是与CSN2C相关联。因此,山羊CSN2出现了另一个沉默等位基因,可命名为CSN2C1。相对于A1等位基因,C1的分布要广泛得多,这表明表征沉默突变的单核苷酸多态性起源于CSN2C。还提出了一种同时鉴定该等位基因与6个DNA表征等位基因中的5个的方法。所涉及的突变编码的蛋白质与C等位基因相同;然而,其在基因3'非翻译区的位置可能会影响特定酪蛋白的表达。