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小鼠1型神经纤维瘤病的cDNA序列显示,编码和非编码mRNA片段均具有高度保守性。

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.

作者信息

Bernards A, Snijders A J, Hannigan G E, Murthy A E, Gusella J F

机构信息

Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129.

出版信息

Hum Mol Genet. 1993 Jun;2(6):645-50. doi: 10.1093/hmg/2.6.645.

Abstract

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.

摘要

为了识别进化保守结构域并便于识别NF1患者或肿瘤中潜在的重要突变,我们测定了小鼠1型神经纤维瘤病mRNA约12 kb的完整序列。该序列预测了一种2841个氨基酸的蛋白质,它与人类神经纤维瘤蛋白的同源性超过98%。小鼠和人类神经纤维瘤蛋白之间45个氨基酸差异中,除9个外,其余均发生在蛋白质的N端一半区域,其中16个变化集中在与IRA相关片段的上游。鉴于高度的序列同一性,NF1患者或肿瘤中的几乎任何序列改变都可能具有重要意义。我们还发现NF1 mRNA的3'非翻译区高度保守,这表明该区域也可能是NF1患者突变的靶点。

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