关键词: CpG islands gene expression genome evolution pseudogenes pseudogenization tissue specificity

Mesh : Animals CpG Islands / genetics Genome Genomics Mammals / genetics Gene Expression

来  源:   DOI:10.31083/j.fbs1601002

Abstract:
BACKGROUND: The promoters of mammalian genes contain clusters of CG dinucleotides known as CpG islands. Most mammalian housekeeping genes predominantly contain CpG islands (CGIs), facilitating gene transcription. Numerous studies have explored the physiological implications of the relationship between CGIs and gene expression. However, the evolutionary implications of this relationship remain largely unexplored. Pseudogenes, in contrast, are genomic remnants that have lost their function over evolutionary time.
METHODS: In our current research, we employed comparative genomic techniques to demonstrate a correlation between the absence of gene expression due to a lack of CGIs in the gene promoters and pseudogenization.
RESULTS: We showed that there is a significant enrichment of tissue-specific genes in the functional orthologs of pseudogenes. We also found a significant correlation between the lack of CGIs and enriched tissue specificity in these functional orthologs of pseudogenes.
CONCLUSIONS: We inferred that perhaps tissue-specific genes are more prone to the process of pseudogenization. In this way, because of their impact on gene expression, CGIs may affect the fate of a gene. To our knowledge, this is the first study to propose a connection between CGIs, gene expression, and the pseudogenization process and discuss the evolutionary implications of this potential trilogy.
摘要:
背景:哺乳动物基因的启动子含有称为CpG岛的CG二核苷酸簇。大多数哺乳动物管家基因主要含有CpG岛(CGI),促进基因转录。许多研究已经探索了CGI与基因表达之间关系的生理意义。然而,这种关系的进化影响在很大程度上仍未被探索。假基因,相比之下,是随着进化时间失去功能的基因组残留物。
方法:在我们目前的研究中,我们采用比较基因组技术来证明由于基因启动子中缺乏CGI而导致的基因表达缺失与假基因化之间存在相关性.
结果:我们表明,在假基因的功能直系同源物中存在明显的组织特异性基因富集。我们还发现,在假基因的这些功能直系同源物中,CGI的缺乏与丰富的组织特异性之间存在显着相关性。
结论:我们推断可能组织特异性基因更倾向于假基因化过程。这样,因为它们对基因表达的影响,CGI可能影响基因的命运。据我们所知,这是第一个提出CGIs之间联系的研究,基因表达,和伪过程,并讨论这一潜在三部曲的进化意义。
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