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• W2130783114 startingPage "e4047" @default.
• W2130783114 abstract "The long interspersed element-1 (LINE-1 or L1) and Alu elements are the most abundant mobile elements comprising 21% and 11% of the human genome, respectively. Since the divergence of human and chimpanzee lineages, these elements have vigorously created chromosomal rearrangements causing genomic difference between humans and chimpanzees by either increasing or decreasing the size of genome. Here, we report an exotic mechanism, retrotransposon recombination-mediated inversion (RRMI), that usually does not alter the amount of genomic material present. Through the comparison of the human and chimpanzee draft genome sequences, we identified 252 inversions whose respective inversion junctions can clearly be characterized. Our results suggest that L1 and Alu elements cause chromosomal inversions by either forming a secondary structure or providing a fragile site for double-strand breaks. The detailed analysis of the inversion breakpoints showed that L1 and Alu elements are responsible for at least 44% of the 252 inversion loci between human and chimpanzee lineages, including 49 RRMI loci. Among them, three RRMI loci inverted exonic regions in known genes, which implicates this mechanism in generating the genomic and phenotypic differences between human and chimpanzee lineages. This study is the first comprehensive analysis of mobile element bases inversion breakpoints between human and chimpanzee lineages, and highlights their role in primate genome evolution." @default.
• W2130783114 created "2016-06-24" @default.
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• W2130783114 date "2008-12-29" @default.
• W2130783114 modified "2023-09-22" @default.
• W2130783114 title "Chromosomal Inversions between Human and Chimpanzee Lineages Caused by Retrotransposons" @default.
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• W2130783114 doi "https://doi.org/10.1371/journal.pone.0004047" @default.
• W2130783114 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2603318" @default.
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• W2130783114 hasPublicationYear "2008" @default.
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