Alu and b1 repeats have been selectively retained in the upstream and intronic regions of genes of specific functional classes.
Publication/Presentation Date
12-1-2009
Abstract
Alu and B1 repeats are mobile elements that originated in an initial duplication of the 7SL RNA gene prior to the primate-rodent split about 80 million years ago and currently account for a substantial fraction of the human and mouse genome, respectively. Following the primate-rodent split, Alu and B1 elements spread independently in each of the two genomes in a seemingly random manner, and, according to the prevailing hypothesis, negative selection shaped their final distribution in each genome by forcing the selective loss of certain Alu and B1 copies. In this paper, contrary to the prevailing hypothesis, we present evidence that Alu and B1 elements have been selectively retained in the upstream and intronic regions of genes belonging to specific functional classes. At the same time, we found no evidence for selective loss of these elements in any functional class. A subset of the functional links we discovered corresponds to functions where Alu involvement has actually been experimentally validated, whereas the majority of the functional links we report are novel. Finally, the unexpected finding that Alu and B1 elements show similar biases in their distribution across functional classes, despite having spread independently in their respective genomes, further supports our claim that the extant instances of Alu and B1 elements are the result of positive selection.
Volume
5
Issue
12
First Page
1000610
Last Page
1000610
ISSN
1553-7358
Published In/Presented At
Tsirigos, A., & Rigoutsos, I. (2009). Alu and b1 repeats have been selectively retained in the upstream and intronic regions of genes of specific functional classes. PLoS computational biology, 5(12), e1000610. https://doi.org/10.1371/journal.pcbi.1000610
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
20019790
Department(s)
Administration and Leadership
Document Type
Article