Single cell sequencing reveals low levels of aneuploidy across mammalian tissues
Single cell sequencing reveals low levels of aneuploidy across mammalian tissues
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DOI：
10.1073/pnas.1415287111
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发表时间：
2014-09-16
影响因子：
11.1
通讯作者：
Amon, Angelika
中科院分区：
文献类型：
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作者：
Knouse, Kristin A.;Wu, Jie;Amon, Angelika
全染色体拷贝数改变，也称为非整倍体，在大多数细胞和生物体中与不良后果有关。然而，据报道，非整倍体的高频率自然发生在哺乳动物的肝脏和大脑中，这加剧了人们的猜测，即非整倍体在这些器官中提供了选择性优势。为了探索这一悖论，我们使用单细胞测序来获得对小鼠和人类组织中染色体拷贝数变化的全基因组、高分辨率评估。我们发现，非整倍体在肝脏和大脑中发生的频率比以前报道的要少得多，并且在这些组织中并不比皮肤更普遍。我们的结果强调了哺乳动物组织中染色体拷贝数变化的罕见，并反对非整倍体在器官功能中的积极作用。因此，癌症是哺乳动物中唯一已知的改变核型以进行功能适应的例子。
Whole-chromosome copy number alterations, also known as aneuploidy, are associated with adverse consequences in most cells and organisms. However, high frequencies of aneuploidy have been reported to occur naturally in the mammalian liver and brain, fueling speculation that aneuploidy provides a selective advantage in these organs. To explore this paradox, we used single cell sequencing to obtain a genome-wide, high-resolution assessment of chromosome copy number alterations in mouse and human tissues. We find that aneuploidy occurs much less frequently in the liver and brain than previously reported and is no more prevalent in these tissues than in skin. Our results highlight the rarity of chromosome copy number alterations across mammalian tissues and argue against a positive role for aneuploidy in organ function. Cancer is therefore the only known example, in mammals, of altering karyotype for functional adaptation.