ABSTRACT Nuclear lamins form an elastic meshwork underlying the inner nuclear membrane and provide mechanical rigidity to the nucleus and maintain shape. Lamins also maintain chromosome positioning and play important roles in several nuclear processes like replication, DNA damage repair, transcription, and epigenetic modifications. LMNA mutations affect cardiac tissue, muscle tissues, adipose tissues to precipitate several diseases collectively termed as laminopathies. However, the rationale behind LMNA mutations and laminopathies continues to elude scientists. During interphase, several chromosomes form inter/intrachromosomal contacts inside nucleoplasm and several chromosomal loops also stretch out to make a ‘loop-cluster’ which are key players to regulate gene expressions. In this perspective, we have proposed that the lamin network in tandem with nuclear actin and myosin provide mechanical rigidity to the chromosomal contacts and facilitate loop-clusters movements. LMNA mutations thus might perturb the landscape of chromosomal contacts or loop-clusters positioning which can impair gene expression profile.

中文翻译：

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核丝：在染色体定位和基因表达中的作用

摘要 核纤层板在内核膜下方形成弹性网状结构，为细胞核提供机械刚度并保持形状。Lamins 还维持染色体定位并在复制、DNA 损伤修复、转录和表观遗传修饰等几个核过程中发挥重要作用。LMNA 突变会影响心脏组织、肌肉组织、脂肪组织，从而导致几种统称为椎板病的疾病。然而，LMNA 突变和椎板病背后的基本原理仍然让科学家们望而却步。在相间期，几条染色体在核质内形成染色体间/染色体内接触，并且几个染色体环也延伸形成“环簇”，这是调节基因表达的关键因素。从这个角度来看，我们提出，与核肌动蛋白和肌球蛋白串联的 lamin 网络为染色体接触提供机械刚度并促进环簇运动。因此，LMNA 突变可能会扰乱染色体接触或环簇定位的景观，这会损害基因表达谱。