2023
DOI: 10.3390/ijms241411437
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Genomic Instability Evolutionary Footprints on Human Health: Driving Forces or Side Effects?

Abstract: In this work, we propose a comprehensive perspective on genomic instability comprising not only the accumulation of mutations but also telomeric shortening, epigenetic alterations and other mechanisms that could contribute to genomic information conservation or corruption. First, we present mechanisms playing a role in genomic instability across the kingdoms of life. Then, we explore the impact of genomic instability on the human being across its evolutionary history and on present-day human health, with a par… Show more

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Cited by 3 publications
(2 citation statements)
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“…Rounding out the Special Issue, Vescheti et al [8] propose a comprehensive perspective on genomic instability, integrating mutations, chromosomal rearrangements, telomeric shortening, and epigenetic alterations. The review is very timely, as methods to characterize various forms of mutations that are not single nucleotide polymorphisms have rapidly matured in recent years, showing the breadth and frequency of genomic structural variation and epigenomic variation.…”
Section: Introductionmentioning
confidence: 99%
“…Rounding out the Special Issue, Vescheti et al [8] propose a comprehensive perspective on genomic instability, integrating mutations, chromosomal rearrangements, telomeric shortening, and epigenetic alterations. The review is very timely, as methods to characterize various forms of mutations that are not single nucleotide polymorphisms have rapidly matured in recent years, showing the breadth and frequency of genomic structural variation and epigenomic variation.…”
Section: Introductionmentioning
confidence: 99%
“…Recent research is now suggesting the existence of a two-way association between microbiota and the variability of many human traits. Indeed, dysbiosis—defined as an imbalance in microbiota profiles—has been associated with a range of complex diseases, including metabolic, immune, neurodegenerative, and neurological diseases [ 8 , 9 , 10 , 11 ]. Nonetheless, the underlying mechanisms of the reciprocal influence among individual or communities of microorganisms and human health are puzzling and need to be further clarified.…”
mentioning
confidence: 99%