MOUSE NEUROFIBROMATOSIS TYPE-1 CDNA SEQUENCE REVEALS HIGH-DEGREE OF CONSERVATION OF BOTH CODING AND NONCODING MESSENGER-RNA SEGMENTS
MOUSE NEUROFIBROMATOSIS TYPE-1 CDNA SEQUENCE REVEALS HIGH-DEGREE OF CONSERVATION OF BOTH CODING AND NONCODING MESSENGER-RNA SEGMENTS
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DOI：
10.1093/hmg/2.6.645
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发表时间：
1993-06-01
影响因子：
3.5
通讯作者：
GUSELLA, JF
中科院分区：
文献类型：
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作者：
BERNARDS, A;SNIJDERS, AJ;GUSELLA, JF
为了识别进化保守结构域并促进识别 NF1 患者或肿瘤中潜在的重要突变，我们确定了小鼠神经纤维瘤病 1 型 mRNA 的完整约 12 kb 序列。该序列预测出一个 2841 个氨基酸的蛋白质，与人类神经纤维蛋白的一致性超过 98%。小鼠和人类神经纤维蛋白之间的 45 个氨基酸差异中，除了 9 个之外，所有差异都发生在蛋白质的 N 端一半，其中 16 个变化集中在 IRA 相关片段的上游。鉴于高度的序列同一性，实际上 NF1 患者或肿瘤中的任何序列改变都可能具有重要意义。我们还发现 NF1 mRNA 的 3' 非翻译片段高度保守，表明该区域也可能是 NF1 患者突变的目标。
To identify evolutionary conserved domains and facilitate the recognition of potentially significant mutations in NF1 patients or tumors, we have determined the complete approximately 12 kb sequence of mouse neurofibromatosis type 1 mRNA. The sequence predicts a 2841 amino acid protein that is more than 98% identical to human neurofibromin. All but 9 of the 45 amino acid differences between mouse and human neurofibromin occur in the N-terminal half of the protein, with 16 changes clustered just upstream of the IRA-related segment. Given the high degree of sequence identity, virtually any sequence alteration in NF1 patients or tumors is potentially significant. We have also found that the 3' untranslated segment of NF1 mRNA is highly conserved, suggesting that this region may also be a target for mutations in NF1 patients.