一文搞懂基因组印记

文摘   2025-01-06 00:41   德国  

基因组印记是指父母遗传给子代的某些基因会表现出亲本来源决定的单等位基因表达特性。也就是说,这些基因只有来自父本或母本的等位基因会表达,而另一方的等位基因则被抑制。在小鼠中已经发现约200个印记基因,它们在胚胎发育和个体生长中发挥着关键作用。

历史发现

基因组印记的发现可以追溯到20世纪30年代。科学家们最初在研究果蝇染色体遗传时发现了这种现象。在60年代,通过研究携带染色体易位的突变体小鼠,遗传学家们发现父本和母本来源的同源染色体对子代个体发育会产生不同的影响。

印记基因的特征

亲本特异性表达:印记基因的表达依赖于其父本或母本来源
组织特异性:某些印记基因只在特定组织中表达
时序性:印记标记在生殖细胞发生过程中被清除,并在下一代重新建立

可维持性:一旦建立,印记标记在体细胞分裂过程中可以稳定维持

调控机制

DNA甲基化:是最主要的印记调控机制
组蛋白修饰:如H3K9me2、H3K9me3等
印记调控区(ICR):控制印记基因簇的表达

非编码RNA:包括长非编码RNA(lncRNA)和小RNA(如miRNA)的调控

生物学功能

胚胎发育:影响胚胎的正常生长发育
代谢调控:参与能量代谢和体温调节
行为调控:影响神经系统发育和动物行为
生长发育:调控个体大小和器官发育

相关疾病

普拉德-威利综合征(PWS):由SNRPN印记基因异常导致
贝克威特-魏德曼综合征(BWS):与IGF2-H19印记区异常相关
糖尿病:某些印记基因异常可导致代谢紊乱
癌症:印记基因失调可能促进肿瘤发生

参考文献

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Dr Leo
ENT医生的科研分享
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