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Unraveling the effect of genomic structural changes in the rhesus macaque - implications for the adaptive role of inversions

Ullastres, Anna, Farré, Marta, Capilla, Laia, Ruiz-Herrera, Aurora (2014) Unraveling the effect of genomic structural changes in the rhesus macaque - implications for the adaptive role of inversions. BMC Genomics, 15 . Article Number 530 2014. ISSN 1471-2164. (KAR id:92110)

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Abstract

Background: By reshuffling genomes, structural genomic reorganizations provide genetic variation on which natural selection can work. Understanding the mechanisms underlying this process has been a long-standing question in evolutionary biology. In this context, our purpose in this study is to characterize the genomic regions involved in structural rearrangements between human and macaque genomes and determine their influence on meiotic recombination as a way to explore the adaptive role of genome shuffling in mammalian evolution. Results: We first constructed a highly refined map of the structural rearrangements and evolutionary breakpoint regions in the human and rhesus macaque genomes based on orthologous genes and whole-genome sequence alignments. Using two different algorithms, we refined the genomic position of known rearrangements previously reported by cytogenetic approaches and described new putative micro-rearrangements (inversions and indels) in both genomes. A detailed analysis of the rhesus macaque genome showed that evolutionary breakpoints are in gene-rich regions, being enriched in GO terms related to immune system. We also identified defense-response genes within a chromosome inversion fixed in the macaque lineage, underlying the relevance of structural genomic changes in evolutionary and/or adaptation processes. Moreover, by combining in silico and experimental approaches, we studied the recombination pattern of specific chromosomes that have suffered rearrangements between human and macaque lineages. Conclusions: Our data suggest that adaptive alleles – in this case, genes involved in the immune response – might have been favored by genome rearrangements in the macaque lineage.

Item Type: Article
Uncontrolled keywords: Genome shuffling, Inversions, Macaque, Recombination, Adaptation, Meiosis Tandem repeats, Evolutionary breakpoints
Divisions: Divisions > Division of Natural Sciences > Biosciences
Depositing User: Marta Farre Belmonte
Date Deposited: 05 Dec 2021 21:05 UTC
Last Modified: 09 Dec 2021 12:24 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/92110 (The current URI for this page, for reference purposes)
Farré, Marta: https://orcid.org/0000-0001-9170-5767
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