TAILIEUCHUNG - Báo cáo khoa học: A study on genomic distribution and sequence features of human long inverted repeats reveals species-specific intronic inverted repeats

The inverted repeats present in a genome play dual roles. They can induce genomic instability and, on the other hand, regulate gene expression. In the present study, we report the distribution and sequence features of recombi-nogenic long inverted repeats (LIRs) that are capable of forming stable stem-loops or palindromes within the human genome. | A study on genomic distribution and sequence features of human long inverted repeats reveals species-specific intronic inverted repeats Yong Wang and Frederick C. C. Leung Schoolof BiologicalSciences and Genome Research Centre The University of Hong Kong China Keywords human intron long inverted repeat primates stem-loop Correspondence Y. Wang Schoolof BiologicalSciences The University of Hong Kong Hong Kong China Fax 852 2857 4672 Tel 852 2299 0825 E-mail wangyong@ Received 11 December 2008 revised 19 January 2009 accepted 23 January 2009 doi The inverted repeats present in a genome play dual roles. They can induce genomic instability and on the other hand regulate gene expression. In the present study we report the distribution and sequence features of recombi-nogenic long inverted repeats LIRs that are capable of forming stable stem-loops or palindromes within the human genome. A total of 2551 LIRs were identified and 37 of them were located in long introns largely 10 kb of genes. Their distribution appears to be random in introns and is not restrictive even for regions near intron-exon boundaries. Almost half of them comprise TG CA-rich repeats inversely arranged Alu repeats and MADE1 mariners. The remaining LIRs are mostly unique in their sequence features. Comparative studies of human chimpanzee rhesus monkey and mouse orthologous genes reveal that human genes have more recombinogenic LIRs than other orthologs and over 80 are human-specific. The human genes associated with the human-specific LIRs are involved in the pathways of cell communication development and the nervous system as based on significantly over-represented Gene Ontology terms. The functional pathways related to the development and functions of the nervous system are not enriched in chimpanzee and mouse orthologs. The findings of the present study provide insight into the role of intronic LIRs in gene regulation and primate speciation. An .

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