A de novo Alu insertion results in neurofibromatosis type 1
A de novo Alu insertion results in neurofibromatosis type 1
复制标题
Alu 从头插入导致 1 型神经纤维瘤病
作者：
M. Wallace;L. B. Andersen;A. Saulino;P. Gregory;T. Glover;F. Collins
1型神经纤维瘤病（NF 1）是一种常见的常染色体显性遗传疾病，具有高突变率和可变表达，特征为神经纤维瘤、咖啡斑、虹膜Lisch结节，以及较少见的特征，包括骨畸形和学习障碍1。最近克隆的NF 1基因编码来自17号染色体上普遍表达的基因座的13种酶的转录物（参考文献14）。第2-4段）。预计大多数NF 1患者具有独特的突变，但迄今为止只有少数人被表征，限制了遗传和功能信息以及DNA诊断的设计。我们报告了一个不寻常的NF 1突变，即从头Alu重复元件插入内含子，导致剪接过程中下游外显子的缺失，从而改变了阅读框架。这种以前未描述的突变机制表明，Alu逆转录位置是一个正在进行的过程中，在人类生殖系。
NEUROFIBROMATOSIS type 1 (NF1) is a common autosomal dominant disorder with a high mutation rate and variable expression, characterized by neurofibromas, café-au-lait spots, Lisch nodules of the iris, and less frequent features including bone deformities and learning disabilities1. The recently cloned NF1 gene encodes a transcript of 13 kilobases from a ubiquitously expressed locus on chromosome 17 (refs. 2–4). Most NF1 patients are expected to have unique mutations, but only a few have so far been characterized, restricting genetic and functional information and the design of DNA diagnostics. We report an unusual NF1 mutation, that of a de novo Alu repetitive element insertion into an intron, which results in deletion of the downstream exon during splicing and consequently shifts the reading frame. This previously undescribed mechanism of mutation indicates that Alu retrotrans-position is an ongoing process in the human germ line.
人类血管性血友病的分子基础：血小板血管性血友病因子 mRNA 分析。
DOI：
10.1073/pnas.86.10.3723
发表时间：
1989
影响因子：
11.1
作者：
Ginsburg,D;Konkle,BA;Gill,JC;Montgomery,RR;Bockenstedt,PL;Johnson,TA;Yang,AY
通讯作者：
Yang,AY
影响因子：
56.9
作者：
WALLACE, MR;MARCHUK, DA;COLLINS, FS
通讯作者：
COLLINS, FS