A form of albinism in cattle is caused by a tyrosinase frameshift mutation
A form of albinism in cattle is caused by a tyrosinase frameshift mutation
复制标题
DOI：
10.1007/s00335-002-2249-5
复制
发表时间：
2004-01-01
期刊：
影响因子：
2.5
通讯作者：
Fredholm, M
中科院分区：
文献类型：
--
作者：
Schmutz, SM;Berryere, TG;Fredholm, M
我们使用从皮肤活检制备的 cDNA 进行 PCR 扩增，以确定几种毛色牛的酪氨酸酶 (TYR) 的全长蛋白质编码序列。在白化 Braunvieh 小牛中检测到胞嘧啶插入，导致移码，从而导致残基 316 处出现过早终止密码子。在该小牛和两只相关白化小牛的基因组 DNA 中发现该插入处于纯合状态。这些小牛的所有六个亲本对于该插入都是杂合的。然而，白化荷斯坦小牛没有这种插入，从可用基因组 DNA 获得的部分 TYR 序列中也没有检测到任何其他突变。开发了诊断基因分型测试来检测布劳恩牛的这种突变。
We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase (TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.