Mosaic variegated aneuploidy in development, ageing and cancer

IF 39.1 1区 生物学 Q1 GENETICS & HEREDITY Nature Reviews Genetics Pub Date : 2024-08-21 DOI:10.1038/s41576-024-00762-6
Marcos Malumbres, Carolina Villarroya-Beltri
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Abstract

Mosaic variegated aneuploidy (MVA) is a rare condition in which abnormal chromosome counts (that is, aneuploidies), affecting different chromosomes in each cell (making it variegated) are found only in a certain number of cells (making it mosaic). MVA is characterized by various developmental defects and, despite its rarity, presents a unique clinical scenario to understand the consequences of chromosomal instability and copy number variation in humans. Research from patients with MVA, genetically engineered mouse models and functional cellular studies have found the genetic causes to be mutations in components of the spindle-assembly checkpoint as well as in related proteins involved in centrosome dynamics during mitosis. MVA is accompanied by tumour susceptibility (depending on the genetic basis) as well as cellular and systemic stress, including chronic immune response and the associated clinical implications. Mosaic variegated aneuploidy is a rare condition in which the copy number of different chromosomes varies across some cells within an individual. In this Review, the authors discuss the genetic underpinnings and clinical manifestations of this condition and relate these findings to the consequences of chromosomal instability more broadly.

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发育、衰老和癌症中的镶嵌变异非整倍体
马赛克变异非整倍体(MVA)是一种罕见病,即染色体数目异常(即非整倍体),影响每个细胞中的不同染色体(使其成为变异体),但只在一定数量的细胞中发现(使其成为马赛克体)。MVA以各种发育缺陷为特征,尽管罕见,却为了解人类染色体不稳定性和拷贝数变异的后果提供了一个独特的临床场景。通过对子宫内膜异位症患者、基因工程小鼠模型和功能性细胞研究的研究发现,其遗传原因是纺锤体组装检查点以及有丝分裂过程中参与中心体动力学的相关蛋白的突变。中枢神经系统疾病伴随着肿瘤易感性(取决于遗传基础)以及细胞和全身压力,包括慢性免疫反应和相关的临床影响。
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来源期刊
Nature Reviews Genetics
Nature Reviews Genetics 生物-遗传学
CiteScore
57.40
自引率
0.50%
发文量
113
审稿时长
6-12 weeks
期刊介绍: At Nature Reviews Genetics, our goal is to be the leading source of reviews and commentaries for the scientific communities we serve. We are dedicated to publishing authoritative articles that are easily accessible to our readers. We believe in enhancing our articles with clear and understandable figures, tables, and other display items. Our aim is to provide an unparalleled service to authors, referees, and readers, and we are committed to maximizing the usefulness and impact of each article we publish. Within our journal, we publish a range of content including Research Highlights, Comments, Reviews, and Perspectives that are relevant to geneticists and genomicists. With our broad scope, we ensure that the articles we publish reach the widest possible audience. As part of the Nature Reviews portfolio of journals, we strive to uphold the high standards and reputation associated with this esteemed collection of publications.
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