Tandem repeats modify the structure of human genes hosted in segmental duplications

Anna De Grassi,Francesca D Ciccarelli

doi:10.1186/gb-2009-10-12-r137

Abstract

Internal tandem repeats are shown to modify the gene structure of human primate-specific paralogs.

Highlights

Duplicated genes are often subject to genomic rearrangements that can lead to the development of novel gene structures
We only considered for further analysis the exon alignments with a variable number of internal tandem repeat (ITR) between the aligned exons (Figure 1c)
By looking at the exonintron structure of the corresponding genes, we identified 102 alignments with variable ITRs retained within both exons and 162 alignments with ITRs occurring at exon-intron boundaries (Figure 1c)

Summary

Introduction

Duplicated genes are often subject to genomic rearrangements that can lead to the development of novel gene structures. The completion of the human genome and recent advances in sequencing technologies have revealed the presence of recently duplicated genomic segments with high degrees of sequence identity. Duplicated paralogs undergo rearrangements that usually cause their non-functionalization [8] These modifications lead to advantageous events, such as the development of a novel function (neo-functionalization) or the repartition of the original function between paralogs (subfunctionalization). Under these circumstances, the new genes are rapidly preserved and fixed into the population [9,10,11,12,13,14]. Rapid divergence of paralogs immediately after gene duplication is a consequence of the relaxed evolutionary pressure that favors the retention and the propagation of the mutated

Methods

Results

Discussion

Conclusion