tandem repeats modify the structure of human genes hosted in segmental duplications串联重复序列的结构修改人类基因驻留在节段重复.pdf

Volume 10, Issue 12, Article R137De Grassi and Ciccarelli2009 Open Access Research Tandem repeats modify the structure of human genes hosted in segmental duplications Anna De Grassi and Francesca D Ciccarelli Address: Department of Experimental Oncology, European Institute of Oncology, IFOM-IEO Campus, Via Adamello, 20139 Milan, Italy . Correspondence: Francesca D Ciccarelli. Email: francesca.ciccarelli@ifom-ieo-campus.it Published: 2 December 2009 Received: 23 July 2009 Revised: 8 October 2009 Genome Biology 2009, 10:R137 (doi:10.1186/gb-2009-10-12-r137) Accepted: 2 December 2009 The electronic version of this article is the complete one and can be found online at /2009/10/12/R137 © 2009 De Grassi and Ciccarelli; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Gene structure modification by tandem repeatspInternal tandem repeats are shown to modify the gene structure of human primate-specific paralogs./p Abstract Background: Recently duplicated genes are often subject to genomic rearrangements that can lead to the development of novel gene structures. Here we specifically investigated the effect of variations in internal tandem repeats (ITRs) on the gene structure of human paralogs located in segmental duplications. Results: We found that around 7% of the primate-specific genes located within duplicated regions of