Molecular cloning of tissue-specific transcripts of a transketolase-related gene: Implications for the evolution of new vertebrate genes
Molecular cloning of tissue-specific transcripts of a transketolase-related gene: Implications for the evolution of new vertebrate genes
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DOI：
10.1006/geno.1996.0124
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发表时间：
1996-03-15
期刊：
影响因子：
4.4
通讯作者：
Poustka, A
中科院分区：
文献类型：
--
作者：
Coy, JF;Dubel, S;Poustka, A
作为差异表达基因的系统性搜索的一部分，我们分离出一个新的转酮酶相关基因（TKR）（HGMW批准的符号TKT），位于Xq 28中的绿色视觉色素基因（GCP）和ABP-280细丝蛋白基因（FLN 1）之间。可以分离编码组织特异性蛋白质同种型的转录物。与已知的转酮醇酶（TK）的比较证明了TKR特异性缺失突变一个硫胺素结合位点，TKR基因的基因组测序揭示了假外显子的存在以及与TR相比组织特异性剪接外显子的获得。由于已经假设脊椎动物基因组是由头索动物基因组的两个四倍化循环产生的，这可以代表通过基因复制调节预先存在的转酮醇酶基因的功能的例子，硫胺素缺乏与两种神经系统疾病密切相关，脚气病和Wernicke-Korsakoff综合征，在这两种情况下，发现TK的活性发生了改变。我们讨论了TKR可能参与解释所观察到的变异转酮醇酶形式。(C)出版社：Academic Press，Inc.
As part of a systematic search for differentially expressed genes, we have isolated a novel transketolase-related gene (TKR) (HGMW-approved symbol TKT), located between the green color vision pigment gene (GCP) and the ABP-280 filamin gene (FLN1) in Xq28. Transcripts encoding tissue-specific protein isoforms could be isolated. Comparison with known transketolases (TK) demonstrated a TKR-specific deletion mutating one thiamine binding site, Genomic sequencing of the TKR gene revealed the presence of a pseudoexon as well as the acquisition of a tissue-specific spliced exon compared to TR. Since it has been postulated that the vertebrate genome arose by two cycles of tetraploidization from a cephalochordate genome, this could represent an example of the modulation of the function of a preexisting transketolase gene by gene duplication, Thiamine defiency is closely involved with two neurological disorders, Beriberi and Wernicke-Korsakoff syndromes, and in both of these conditions TK with altered activity are found. We discuss the possible involvement of TKR in explaining the observed variant transketolase forms. (C) 1996 Academic Press, Inc.