Abnormal processing of beta Knossos RNA
Abnormal processing of beta Knossos RNA
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β Knossos RNA 的异常加工
DOI：
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发表时间：
1984
期刊：
影响因子：
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通讯作者：
D. Loukopoulos
中科院分区：
文献类型：
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作者：
S. Orkin;S. Antonarakis;D. Loukopoulos
血红蛋白 β Knossos（β 27Ala-Ser）由于其合成减少而成为 β 地中海贫血的原因之一。为了研究这一观察结果的基础，我们分离了 β Knossos 基因并检查了其在异源细胞中的表达。我们发现一些 β Knossos RNA 转录本被异常加工，利用了通过 Knossos 取代增强的隐秘剪接序列。这种形式的异常 RNA 加工可见于该区域的另外两个突变（密码子 24 中的沉默替换和产生 β E 变体的密码子 26 中的替换），并且很可能明显导致了 β Knossos 合成的减少。
Hemoglobin beta Knossos (beta 27Ala-Ser) is a cause of beta-thalassemia due to its reduced synthesis. To investigate the basis for this observation, we have isolated the beta Knossos gene and examined its expression in heterologous cells. We have found that some beta Knossos RNA transcripts are abnormally processed, utilizing a cryptic splice sequence that is enhanced by the Knossos substitution. This form of abnormal RNA processing is seen in two other mutations in this region (a silent substitution in codon 24 and the substitution in codon 26 that produces the beta E variant) and most likely contributes appreciably to the reduced synthesis of beta Knossos.