Comprehensive analysis of keratin gene clusters in humans and rodents
Comprehensive analysis of keratin gene clusters in humans and rodents
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DOI：
10.1078/0171-9335-00354
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发表时间：
2004-02-01
影响因子：
6.6
通讯作者：
Magin, TM
中科院分区：
文献类型：
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作者：
Hesse, M;Zimek, A;Magin, TM
在这里，我们提出了两个角蛋白(K)基因簇在人，小鼠和大鼠基因组的比较分析。总的来说，在这三种哺乳动物物种的集群之间有一个显着但不完美的同步。人类I型角蛋白基因簇由27个基因和4个假基因组成，它们的取向相同。它被编码角蛋白相关蛋白（KAPs）的多个基因的结构域中断。细胞角蛋白、毛发角蛋白和内根鞘角蛋白基因以小的亚簇组合在一起，表明进化是通过复制事件发生的。在啮齿动物I型基因簇的末端，发现了一个与K14和K17相关的新基因，该基因在人类中转化为一个假基因。人类11型基因簇由27个基因和5个假基因组成，其中大部分基因排列方向相同。在已知的26个11型小鼠角蛋白基因中，通过RT-PCR鉴定了两个新基因的表达。在肺组织中检测到簇中的第一个基因Kb20。Kb39是K1的一个新的同源物，在某些层状上皮中表达。它代表了那些角化性皮肤综合征的候选基因，迄今为止没有发现K1突变。最值得注意的是，当人类的K3基因发生突变时，会导致米斯曼角膜营养不良，而在老鼠的基因组中却没有对应的基因。人类基因组中有138个与K8和K18相关的假基因，而小鼠和大鼠基因组中只有4个和6个这样的假基因。我们的结果也为统一的角蛋白命名和未来的功能研究提供了基础。
Here, we present the comparative analysis of the two keratin (K) gene clusters in the genomes of man, mouse and rat. Overall, there is a remarkable but not perfect synteny among the clusters of the three mammalian species. The human type I keratin gene cluster consists of 27 genes and 4 pseudogenes, all in the same orientation. It is interrupted by a domain of multiple genes encoding keratin-associated proteins (KAPs). Cytokeratin, hair and inner root sheath keratin genes are grouped together in small subclusters, indicating that evolution occurred by duplication events. At the end of the rodent type I gene cluster, a novel gene related to K14 and K17 was identified, which is converted to a pseudogene in humans. The human type 11 cluster consists of 27 genes and 5 pseudogenes, most of which are arranged in the same orientation. Of the 26 type 11 murine keratin genes now known, the expression of two new genes was identified by RT-PCR. Kb20, the first gene in the cluster, was detected in lung tissue. Kb39, a new ortholog of K1, is expressed in certain stratified epithelia. It represents a candidate gene for those hyperkeratotic skin syndromes in which no K1 mutations were identified so far. Most remarkably, the human K3 gene which causes Meesmann's corneal dystrophy when mutated, lacks a counterpart in the mouse genome. While the human genome has 138 pseudogenes related to K8 and K18, the mouse and rat genomes contain only 4 and 6 such pseudogenes. Our results also provide the basis for a unified keratin nomenclature and for future functional studies.