Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene.
Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene.
复制标题
人类角蛋白基因的失活：酸性角蛋白假基因序列的突变谱。
DOI：
10.1093/oxfordjournals.molbev.a040473
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发表时间：
1988
影响因子：
10.7
通讯作者：
Blumenberg,M
中科院分区：
文献类型：
--
作者：
Savtchenko,ES;Freedberg,IM;Choi,IY;Blumenberg,M
角蛋白是由多基因家族编码的细胞骨架蛋白。我们已经鉴定了第一个人角蛋白假基因，并测定了其完整的核苷酸序列。序列比较表明，假基因来自最近的50 kd角蛋白（K14）基因的重复。这两个基因的编码序列和内含子序列分别为95%和93%相同。尽管假基因中的调控区序列与50 kd功能基因中的调控区序列几乎相同，但在假基因中已鉴定出几种有害突变。在编码区有三个移码，其中之一是一个完美的8-bp的重复。第一个外显子中的单碱基对缺失和倒数第二个外显子中的单碱基对插入也会导致移码。剩下的三个有害突变干扰mRNA加工信号：两个改变内含子/外显子边界，第三个破坏多聚腺苷酸化信号。这些突变清楚地将该序列鉴定为人角蛋白假基因。
Keratins are cytoskeletal proteins encoded by a multigene family. We have identified the first human keratin pseudogene and determined its complete nucleotide sequence. Sequence comparisons indicate that the pseudogene arose from a very recent duplication of the 50-kd keratin (K14) gene. The coding and the intron sequences of the two genes are 95% and 93% identical, respectively. Although the sequence of the regulatory region in the pseudogene is virtually identical to that in the 50-kd functional gene, several deleterious mutations have been identified in the pseudogene. There are three frameshifts in the coding regions, one of which is a perfect 8-bp duplication. A single-base-pair deletion in the first exon and a single-base-pair insertion in the penultimate exon also result in frameshifts. The three remaining deleterious mutations interfere with the mRNA processing signals: two alter the intron/exon boundaries, and the third disrupts the polyadenylation signal. These mutations clearly identify the sequence as a human keratin pseudogene.