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Aberrant Transposition Downloaded from genesdev.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press PERSPECTIVE Too many ends: aberrant transposition Clifford F. Weil1 Agronomy Department, Purdue University, West Lafayette, Indiana 47907, USA A recent study by Zhang and colleagues published in the However, an alternative mechanism for mediating March 15, 2009, issue of Genes & Development (pp. 755– rearrangement is that transposition mechanisms are di- 765) demonstrates that maize Ac/Ds transposons medi- rectly responsible for the breakage and eventual rejoining ate translocations and other rearrangements through of the DNA in these rearrangements, with the idea that aberrant execution of the normal transposition process. some form of aberrant transposition had occurred. Some Ac transposase uses one end from each of two neigh- recent work, including a paper published in the March 15, boring elements in these events, which may happen 2009, issue of Genes & Development (Zhang et al. 2009), more commonly than previously thought. In genomes has also been examining mechanistic roles for how trans- where there can be many transposon ends scattered posons may mediate rearranging genomes all by them- across all the chromosomes, such mistakes can have selves, simply as a by-product of their normal function. important consequences. Transposases and transposon ends The dynamic nature of genomes is now an accepted fact For eukaryotic transposons that move via DNA inter- of biology, with transposon movement and rearrange- mediates (Type II elements), there are often subtle differ- ment of chromosomes taught even to high school biology ences between the sequences at each end of a transposon classes. Translocations, inversions, and duplications have that distinguish them and, in some instances, transposase been important genetic tools in a wide range of organ- enzymes bind each of them differentially (for review, see isms for almost a century. In many cases, these rearrange- Kunze and Weil 2002). A typical transposition event has ments arise spontaneously after double-stranded breaks transposase complexes bound to a ‘‘left’’ end and a ‘‘right’’ in DNA, and a significant cause of these breaks is trans- end of the same mobile element (Fig. 1A). This defines the position by mobile DNA elements. boundaries of the element, and the two ends synapse and One of the earliest observations McClintock (1948) act together in transposition. Ordinarily, the transposase made in her discovery of transposable elements was that, cuts the ends of the transposon, freeing the transposon to in addition to their movement, these elements had the be joined to some new insertion site. As the transposon ability to cause cytologically detectable chromosome inserts at its new location, staggered, single-stranded rearrangement. Once molecular tools were well estab- nicks in the target are created, the transposon is joined lished, papers began to emerge in both the plant and to the protruding ends of the new site, and the gaps are animal transposon literature clearly placing transposons filled in to create a short duplication of the target site at chromosomal rearrangement break points. More re- sequence adjacent to both ends of the transposon. This cently, similar rearrangements have been reported among characteristic target site duplication (TSD) immediately fungal transposons as well (Hua-Van et al. 2002). flanking the insertion site differs in length depending on The high copy number of transposons and their distri- the transposon family. It is likely, though not yet dem- bution throughout the genome suggest that one mecha- onstrated, that transposase molecules holding the ends nism for these rearrangements is recombination. In the of the transposon in a specific configuration when it larger context of genome evolution, a great deal of in- attempts to reinsert are responsible for just how far apart terest has long been placed on the role of repetitive DNA the single-strand nicks are and, therefore, how large the elements such as transposons (for a recent review, see TSDs are. Typically, the site from which the transposon Bennetzen 2005). These sequences permit unequal cross- was excised is repaired either by nonhomologous end- over, establish blocks of tightly linked genes that become joining (NHEJ) or by using a homologous and unbroken inherited as groups, and may even establish centromeres DNA such as a sister chromatid or homologous chromo- and telomeres (Carbon and Clarke 1990; Richards et al. some as a template (for review, see Kunze and Weil 2002). 1991). Transposons propagate by transposing and it is thus vital to their survival that individual elements are recog- [Keywords: V(D)J recombination; chromosome rearrangements; hAT nizable as such to the enzyme that moves them. How- elements; transposition] ever, given that many transposons exist in copy numbers 1Correspondence. E-MAIL [email protected]; FAX (765) 496-2926. ranging up to tens of thousands, there are large numbers Article is online at http://www.genesdev.org/cgi/doi/10.1101/gad.1801309. of element ends at various places throughout the 1032 GENES & DEVELOPMENT 23:1032–1036 Ó 2009 by Cold Spring Harbor Laboratory Press ISSN 0890-9369/09; www.genesdev.org Downloaded from genesdev.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press Aberrant transposition Figure 1. Ac/Ds transposition, right and wrong. (A) Diagram of a single transposon moving. Different ends of the element are indicated as filled and open triangles, transposase molecules are shown as open ovals, and target site and TSDs are indicated as vertical rectangles. Transposase molecules bound at the two ends, indicated by dotted circles, interact to facilitate transposition. Upon reinsertion, a new TSD is created. Note that the transposon can reinsert in either orientation (filled triangle at left, as shown, or filled triangle at right). Excision site is repaired by error-prone, NHEJ of TSDs, indicated by X. (B) Aberrant transposition in a genome with numerous transposons and partial transposons. Each insertion has its own TSD, represented by different vertical rectangles. Three chromosomes are shown as a heavy line, a dashed line, and a thin solid line, each with its centromere. Transposase binds at numerous ends throughout the genome, and interaction can occur between two ends (dotted circles) that are not part of the same transposon. Transposition events and repair of excision sites can lead to translocations (shown); ‘‘reinsertion’’ in the opposite orientation (filled triangle on the right), would be a dicentric chromosome (CEN2/CEN3) and an acentric fragment. genomes and in all possible orientations and distances involves either transposition of only one end of a trans- relative to one another. Defining a single element (one poson instead of both (seen for the Ac relative in snap- left end and one right end in the correct relative orienta- dragon, Tam3) (Hudson et al. 1990), or the combined use tions) can thus be a challenge. of two transposon ends that each belongs to separate transposons (Doring et al. 1985, 1989; Ralston et al. 1989; English et al. 1993, 1995; Weil and Wessler 1993; Zhang When transposases make mistakes and Peterson 1999, 2004; Huang and Dooner 2008). Initial binding of transposase to one transposon end as Without postulating any change in the mechanisms of compared with the other end of the same element proves cutting and rejoining, these alternative scenarios explain to be surprisingly independent. As a result, as much as many of the rearrangements seen. Note that there are two 20% of the time, transposase bound to an end from one DNA joining events in the process—insertion of the element can interact with transposase bound to an end of ‘‘transposon’’ at its new location and repair of the ‘‘exci- a second, nearby element, leading to an aberrant trans- sion site’’ the transposon has left—and both provide position event (Fig. 1B). However, in such cases what is opportunity to form novel chromosomes or initiate being ‘‘excised’’ and ‘‘reinserted’’ is not a typical trans- bridge–breakage–fusion cycles that can lead to further poson at all but a region of chromosomal DNA. Depend- rearrangements. For example, transposase bound to one ing on what is to be reinserted and where, rearrangements end of an Ac element and to a partial or ‘‘fractured’’ Ac such as duplications, deficiencies, inversions, and trans- >30 kb away and in the same relative orientation also locations can result. Indeed, this same sort of interaction causes chromosome breakage, even though the trans- between ends of different transposons and aberrant trans- posons are likely to be on the same sister chromatid position lies at the heart of the chromosome breakage (Ralston et al. 1989). Similarly, for two Ds elements near that allowed McClintock (1948) to recognize the element each other and in the same relative orientation, trans- she named Dissociation (Ds) when she first described posase-dependent deletions of all the sequences between transposable elements. The molecular explanation of the the transposons suggest that such events occur by the dicentric chromosome leading to the bridge–breakage– formation of large ‘‘macrotransposons’’ that carry with fusion cycles that identified Ds proved to be the cell them all the chromosomal DNA between the mobile repairing an ‘‘excision’’ event that involved two different element ends, similar to the compound transposons elements, each on different sister chromatids (English flanked by IS elements observed in bacterial systems et al. 1993; Weil and Wessler 1993). Repair of the (Klein et al. 1988; Dowe et al. 1990). The closer together ‘‘excision site’’ by NHEJ fuses the sister chromatids. the individual elements are, the more likely they are to When the centromeres attached to these sister chroma- move in concert as a macrotransposon (Dooner and tids go to separate poles at the next mitosis, an anaphase Belachew 1991). Dooner and coworkers (Huang and bridge is formed. Dooner 2008) confirmed recently that one such macro- This proves to be only the tip of a proverbial iceberg of transposon in maize both excises and reinserts, and found rearrangements these elements can produce.
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