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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Tandem repeats modify the structure of human genes hosted in segmental duplications. | 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 Genome Biology 2009 I0 RI37 doi 10.1186 gb-2009-l0-l2-rl 37 The electronic version of this article is the complete one and can be found online at http genomebiology.com 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 http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Received 23 July 2009 Revised 8 October 2009 Accepted 2 December 2009 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 the genome contain variable tandem repeats. These genes are members of large groups of recently duplicated paralogs that are often polymorphic in the human population. Half of the identified ITRs occur within coding exons and may be either kept or spliced out from the mature transcript. When ITRs reside within exons they encode variable amino acid repeats. When located at exon-intron boundaries ITRs can generate alternative splicing patterns through the formation of novel introns. Conclusions Our study shows that variation in the number of ITRs impacts on recently duplicated genes by modifying their coding sequence .
