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Transposable elements that move via RNA intermediates

Transposable elements that move via RNA intermediates

Transposable DNA sequences that move by an RNA intermediate are called retrotransposons. They are very common in eukaryotic organisms, but some examples have also been found in bacteria. Some retrotransposons have long terminal repeats (LTRs) that regulate expression (Fig. 9.15). The LTRs were initially discovered in retroviruses. They have now been seen in some but not all retrotransposons. They have a strong promoter and enhancer, as well as signals for forming the 3’ end of mRNAs after transcription. The presence of the LTR is distinctive for this family, and members are referred to as LTR-containing retrotransposons. Examples include the yeast Ty-1family and retroviral proviruses in vertebrates. Retroviral proviruses encode a reverse transcriptase and an endonuclease, as well as other proteins, some of which are needed for viral assembly and structure.

Others retrotransposons are in the large and diverse class of non-LTR retrotransposons (Fig. 9.15). One of the most prevalent examples is the family of long interspersed repetitive elements, or LINEs. It was initially found in mammals but has now been found in a broad range of phyla, including fungi. The first and most common LINE family in mammals is the LINE1 family, also called L1. An older family, but discovered later, is called LINE2. Full-length LINEs are about 7000 bp long, and there are about 10,000 copies in humans. Many other copies are truncated from the 5’ ends. Like retroviral proviruses, the full-length L1 encodes a reverse transcriptase and an endonuclease, as well as other proteins. However, the promoter is not an LTR. Other abundant non-LTR retrotransposons, initially discovered in mammals, are short interspersed repetitive elements, or SINEs. These are about 300 bp long. Alurepeats, with over a million copies, comprise the predominant class of SINEs in humans. Non-LTR retrotransposons besides LINEs are found in many other species, such as jockey repeats in Drosophila.

Figure 9.15. Four classes of transposable elements make up the vast majority of human repetitive DNA. From the Nature paper “Initial sequencing and analysis of the human genome,” by the International Human Genome Consortium.

Extensive studies in of genomic DNA sequences have allowed the reconstruction of the history of transposable elements in humans and other mammals. The major approach has been to classify the various types of repeats (themselves transposable elements), align the sequences and determine how different the members of a family are from each other. Since the vast majority of the repeats are no longer active in transposition, and have no other obvious function, they will accumulate mutations rapidly, at the neutral rate. Thus the sequence of more recently transposing members are more similar to the source sequence than are the members that transposed earlier. The results of this analysis show that the different families of repeats have propagated in distinct waves through evolution (Fig. 9.16). The LINE2 elements were abundant prior to the mammalian divergence, roughly 100 million years ago. Both LINE1 and Alu repeats have propagated more recently in humans. It is likely that the LINE1 elements, which encode a nuclease and a reverse transcriptase, provide functions needed for the transposition and expansion of Alu repeats. LINE1 elements have expanded in all orders of mammals, but each order has a distinctive SINE, all of which are derived from a gene transcribed by RNA polymerase III. This has led to the idea that LINE1 elements provide functions that other different transcription units use for transposition.


Figure 9.16. Age distribution of repeats in human and mouse. The LINE2 and MIR repeats propagated before the mammalian radiation, about 100 million years ago, but Alu repeats are formed by recent transpositions in primates (light blue portion of the bar graphs in aand b). The LINE1 and LTR repeats are transposing with about the same frequency as they have historically in the mouse lineage (panels c and d), but few repeats are still transposing in human (panels a and b). From the Nature paper “Initial sequencing and analysis of the human genome,” by the International Human Genome Consortium.