La Carrera del Investigador Científico y Tecnológico del CONICET, Argentina, Laboratorio de Citogenética y Mutagénesis, Instituto Multidisciplinario de Biología Celular (CCT-CONICET La Plata-CICPBA), C.C. 403, 1900 La Plata, Argentina.
Mutagenesis. 2012 Jan;27(1):1-15. doi: 10.1093/mutage/ger052. Epub 2011 Aug 19.
Telomeres are specialised nucleoproteic complexes localised at the physical ends of linear eukaryotic chromosomes that maintain their stability and integrity. In vertebrate chromosomes, the DNA component of telomeres is constituted by (TTAGGG)n repeats, which can be localised at the terminal regions of chromosomes (true telomeres) or at intrachromosomal sites (interstitial telomeric sequences or ITSs, located at the centromeric region or between the centromere and the telomere). In the past two decades, the use of molecular cytogenetic techniques has led to a new spectrum of spontaneous and clastogen-induced chromosomal aberrations being identified, involving telomeres and ITSs. Some aberrations involve the chromosome ends and, indirectly, the telomeric repeats located at the terminal regions of chromosomes (true telomeres). A second type of aberrations directly involves the telomeric sequences located at the chromosome ends. Finally, there is a third class of aberrations that specifically involves the ITSs. The aims of this review are to provide a detailed description of these aberrations and to summarise the available data regarding their induction by physical and chemical mutagens.
端粒是位于线性真核染色体物理末端的特殊核蛋白复合物,可维持染色体的稳定性和完整性。在脊椎动物染色体中,端粒的 DNA 组成部分由(TTAGGG)n 重复序列构成,这些重复序列可以位于染色体的末端区域(真正的端粒)或位于染色体内部(位于着丝粒区域或着丝粒与端粒之间的染色体间端粒序列或 ITS)。在过去的二十年中,分子细胞遗传学技术的应用导致了新的自发和诱变剂诱导的染色体畸变谱的出现,涉及端粒和 ITS。一些畸变涉及染色体末端,间接涉及位于染色体末端区域的端粒重复序列(真正的端粒)。第二种类型的畸变直接涉及位于染色体末端的端粒序列。最后,还有第三类畸变专门涉及 ITS。本文的目的是详细描述这些畸变,并总结关于其物理和化学诱变剂诱导的现有数据。