Division of Molecular Biology, Ruđer Bošković Institute, Zagreb, Croatia.
Genome Biol Evol. 2013;5(12):2549-59. doi: 10.1093/gbe/evt202.
Two distinct classes of repetitive sequences, interspersed mobile elements and satellite DNAs, shape eukaryotic genomes and drive their evolution. Short arrays of tandem repeats can also be present within nonautonomous miniature inverted repeat transposable elements (MITEs). In the clam Donax trunculus, we characterized a composite, high copy number MITE, named DTC84. It is composed of a central region built of up to five core repeats linked to a microsatellite segment at one array end and flanked by sequences holding short inverted repeats. The modular composition and the conserved putative target site duplication sequence AA at the element termini are equivalent to the composition of several elements found in the cupped oyster Crassostrea virginica and in some insects. A unique feature of D. trunculus element is ordered array of core repeat variants, distinctive by diagnostic changes. Position of variants in the array is fixed, regardless of alterations in the core repeat copy number. Each repeat harbors a palindrome near the junction with the following unit, being a potential hotspot responsible for array length variations. As a consequence, variations in number of tandem repeats and variations in flanking sequences make every sequenced element unique. Core repeats may be thus considered as individual units within the MITE, with flanking sequences representing a "cassette" for internal repeats. Our results demonstrate that onset and spread of tandem repeats can be more intimately linked to processes of transposition than previously thought and suggest that genomes are shaped by interplays within a complex network of repetitive sequences.
两类不同的重复序列,即分散的移动元件和卫星 DNA,塑造了真核生物基因组并推动了它们的进化。非自主微型反转录转座元件 (MITE) 内部也可能存在短串联重复序列的阵列。在 clam Donax trunculus 中,我们对一种复合的、高拷贝数的 MITE 进行了表征,命名为 DTC84。它由一个中央区域组成,该区域由多达五个核心重复序列构成,与一个微卫星片段相连,位于一个阵列的末端,两侧是带有短反向重复序列的序列。该元件的模块组成和保守的假定靶位点重复序列 AA 位于元件末端,与在杯状牡蛎 Crassostrea virginica 和一些昆虫中发现的几个元件的组成相同。D. trunculus 元素的一个独特特征是核心重复变体的有序阵列,通过诊断性变化来区分。无论核心重复拷贝数的变化如何,变体在阵列中的位置都是固定的。每个重复在与下一个单元连接的位置附近都有一个回文,是负责阵列长度变化的潜在热点。因此,串联重复数的变化和侧翼序列的变化使每个测序元件都是独特的。核心重复序列可以被视为 MITE 中的单个单元,侧翼序列代表内部重复序列的“盒”。我们的结果表明,串联重复序列的起始和扩展可能与转座过程的联系比以前认为的更为密切,并表明基因组是由重复序列的复杂网络内的相互作用塑造的。