Orkin S H, Antonarakis S E, Loukopoulos D
Blood. 1984 Jul;64(1):311-3.
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.
血红蛋白β-克诺索斯（β27丙氨酸-丝氨酸）因其合成减少而成为β地中海贫血的一个病因。为了探究这一观察结果的基础，我们分离了β-克诺索斯基因，并检测了其在异源细胞中的表达。我们发现一些β-克诺索斯RNA转录本被异常加工，利用了一个隐蔽剪接序列，该序列因克诺索斯替换而增强。这种异常RNA加工形式在该区域的另外两个突变（密码子24处的沉默替换以及产生βE变体的密码子26处的替换）中也可见，并且很可能对β-克诺索斯合成减少有显著贡献。
