Table 5A. Examples of documented exon shuffling by mobile genetic elements

Mobile Element(s)



Mu-Like element carrying exons (Pack-MULEs)


(Jiang, Bao et al. 2004) (Jiang, Ferguson et al. 2011)



(Hoen, Park et al. 2006)



(Barbaglia, Klusman et al. 2012)

Retrotransposon activity


(Elrouby and Bureau 2010)


Grass Lolium perenne

(Langdon, Thomas et al. 2009)



(Yang, Arguello et al. 2008)



(Kogan, Usakin et al. 2012)



(Betrán, Thornton et al. 2002; Vibranovski, Zhang et al. 2009)



(Coates, Hellmich et al. 2012)

LINE-1 (frequent retrotransposition from X chromosome to autosomes)

Homo sapiens

(Uechi, Maeda et al. 2002; Ding, Lin et al. 2006; Garcia-Perez, Doucet et al. 2007; Solyom, Ewing et al. 2012)


Homo sapiens

(Xing, Wang et al. 2006; Damert, Raiz et al. 2009; Hancks, Ewing et al. 2009; Taniguchi-Ikeda, Kobayashi et al. 2011)




Barbaglia, A. M., K. M. Klusman, et al. (2012). "Gene capture by Helitron transposons reshuffles the transcriptome of maize." Genetics 190(3): 965-975.

Betrán, E., K. Thornton, et al. (2002). "Retroposed new genes out of the X in Drosophila." Genome Res 12: 1854-1859.

Coates, B. S., R. L. Hellmich, et al. (2012). "Mobilizing the genome of Lepidoptera through novel sequence gains and end creation by non-autonomous Lep1 Helitrons." DNA Res 19(1): 11-21.

Damert, A., J. Raiz, et al. (2009). "5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome." Genome Res 19(11): 1992-2008.

Ding, W., L. Lin, et al. (2006). "L1 elements, processed pseudogenes and retrogenes in mammalian genomes." IUBMB Life 58(12): 677-685.

Elrouby, N. and T. E. Bureau (2010). "Bs1, a new chimeric gene formed by retrotransposon-mediated exon shuffling in maize." Plant Physiol 153(3): 1413-1424.

Garcia-Perez, J. L., A. J. Doucet, et al. (2007). "Distinct mechanisms for trans-mediated mobilization of cellular RNAs by the LINE-1 reverse transcriptase." Genome Res 17(5): 602-611.

Hancks, D. C., A. D. Ewing, et al. (2009). "Exon-trapping mediated by the human retrotransposon SVA." Genome Res 19(11): 1983-1991.

Hoen, D. R., K. C. Park, et al. (2006). "Transposon-mediated expansion and diversification of a family of ULP-like genes." Mol Biol Evol 23(6): 1254-1268.

Jiang, N., Z. Bao, et al. (2004). "Pack-MULE transposable elements mediate gene evolution in plants." Nature 431(7008): 569-573.

Jiang, N., A. A. Ferguson, et al. (2011). "Pack-Mutator-like transposable elements (Pack-MULEs) induce directional modification of genes through biased insertion and DNA acquisition." Proc Natl Acad Sci U S A 108(4): 1537-1542.

Kogan, G. L., L. A. Usakin, et al. (2012). "Expansion and evolution of the X-linked testis specific multigene families in the melanogaster species subgroup." PLoS One 7(5): e37738.

Langdon, T., A. Thomas, et al. (2009). "Fragments of the key flowering gene GIGANTEA are associated with helitron-type sequences in the Pooideae grass Lolium perenne." BMC Plant Biol 9: 70.

Solyom, S., A. D. Ewing, et al. (2012). "Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon." Hum Mutat 33(2): 369-371.

Taniguchi-Ikeda, M., K. Kobayashi, et al. (2011). "Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy." Nature 478(7367): 127-131.

Uechi, T., N. Maeda, et al. (2002). "Functional second genes generated by retrotransposition of the X-linked ribosomal protein genes." Nucleic Acids Res 30(24): 5369-5375.

Vibranovski, M. D., Y. Zhang, et al. (2009). "General gene movement off the X chromosome in the Drosophila genus." Genome Res 19(5): 897-903.

Xing, J., H. Wang, et al. (2006). "Emergence of primate genes by retrotransposon-mediated sequence transduction." Proc Natl Acad Sci U S A 103(47): 17608-17613.

Yang, S., J. R. Arguello, et al. (2008). "Repetitive element-mediated recombination as a mechanism for new gene origination in Drosophila." PLoS Genet 4(1): e3.