Usdin Karen
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892-0830, USA.
Genome Res. 2008 Jul;18(7):1011-9. doi: 10.1101/gr.070409.107.
Tandem repeats are common features of both prokaryote and eukaryote genomes, where they can be found not only in intergenic regions but also in both the noncoding and coding regions of a variety of different genes. The repeat expansion diseases are a group of human genetic disorders caused by long and highly polymorphic tandem repeats. These disorders provide many examples of the effects that such repeats can have on many biological processes. While repeats in the coding sequence can result in the generation of toxic or malfunctioning proteins, noncoding repeats can also have significant effects including the generation of chromosome fragility, the silencing of the genes in which they are located, the modulation of transcription and translation, and the sequestering of proteins involved in processes such as splicing and cell architecture.
串联重复序列是原核生物和真核生物基因组的共同特征,它们不仅存在于基因间区域,还存在于各种不同基因的非编码区和编码区。重复序列扩增疾病是一类由长且高度多态的串联重复序列引起的人类遗传疾病。这些疾病提供了许多例子,说明此类重复序列可对多种生物学过程产生影响。虽然编码序列中的重复序列可导致产生有毒或功能异常的蛋白质,但非编码重复序列也可产生重大影响,包括导致染色体脆性、其所在基因的沉默、转录和翻译的调节,以及参与剪接和细胞结构等过程的蛋白质的隔离。