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Chromosome instability and aneuploidy in the mammalian brain

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Abstract

This review investigates the role of aneuploidy and chromosome instability (CIN) in the aging brain. Aneuploidy refers to an abnormal chromosomal count, deviating from the normal diploid set. It can manifest as either a deficiency or excess of chromosomes. CIN encompasses a broader range of chromosomal alterations, including aneuploidy as well as structural modifications in DNA. We provide an overview of the state-of-the-art methodologies utilized for studying aneuploidy and CIN in non-tumor somatic tissues devoid of clonally expanded populations of aneuploid cells.

CIN and aneuploidy, well-established hallmarks of cancer cells, are also associated with the aging process. In non-transformed cells, aneuploidy can contribute to functional impairment and developmental disorders. Despite the importance of understanding the prevalence and specific consequences of aneuploidy and CIN in the aging brain, these aspects remain incompletely understood, emphasizing the need for further scientific investigations.

This comprehensive review consolidates the present understanding, addresses discrepancies in the literature, and provides valuable insights for future research efforts.

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Funding

The authors on this review are supported by funds of the National Institute of Health: R01#AG068908 to CM and JC; P01#P01AG017242 to JV, JC, ZZ and YS; U01#U01CA238726 to CM. CM is supported by CCGS #P30CA072720.

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CM and OA drafted the sections of this review; all co-authors provided feedback and edited the draft.

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Correspondence to Cristina Montagna.

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This work constitutes a comprehensive review of published literature, and no studies involving human or vertebrate animal subjects were conducted. Moreover, no personal data is described or disclosed in this review article.

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The authors declare no competing interests.

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Responsible Editor: Stefano Santaguida.

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Albert, O., Sun, S., Huttner, A. et al. Chromosome instability and aneuploidy in the mammalian brain. Chromosome Res 31, 32 (2023). https://doi.org/10.1007/s10577-023-09740-w

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  • DOI: https://doi.org/10.1007/s10577-023-09740-w

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