Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Republic of Tatarstan, Russia, 420008.
Department of Biochemistry and Biophysics, Texas A&M University, 2128 TAMU, College Station, TX, 77843-2128, USA.
Nat Commun. 2019 Dec 2;10(1):5479. doi: 10.1038/s41467-019-13448-z.
Telomeres cap the physical ends of eukaryotic chromosomes to ensure complete DNA replication and genome stability. Heritable natural variation in telomere length exists in yeast, mice, plants and humans at birth; however, major effect loci underlying such polymorphism remain elusive. Here, we employ quantitative trait locus (QTL) mapping and transgenic manipulations to identify genes controlling telomere length set point in a multi-parent Arabidopsis thaliana mapping population. We detect several QTL explaining 63.7% of the total telomere length variation in the Arabidopsis MAGIC population. Loss-of-function mutants of the NOP2A candidate gene located inside the largest effect QTL and of two other ribosomal genes RPL5A and RPL5B establish a shorter telomere length set point than wild type. These findings indicate that evolutionarily conserved components of ribosome biogenesis and cell proliferation pathways promote telomere elongation.
端粒覆盖真核染色体的物理末端，以确保完整的 DNA 复制和基因组稳定性。在酵母、老鼠、植物和人类出生时，端粒长度就存在可遗传的自然变异；然而，这种多态性背后的主要效应基因座仍然难以捉摸。在这里，我们采用数量性状基因座（QTL）图谱和转基因操作，来鉴定控制拟南芥多亲本图谱群体中端粒长度设定点的基因。我们在拟南芥 MAGIC 群体中检测到了几个解释总端粒长度变异的 63.7%的 QTL。位于最大效应 QTL 内的 NOP2A 候选基因和另外两个核糖体基因 RPL5A 和 RPL5B 的功能丧失突变体比野生型具有更短的端粒长度设定点。这些发现表明，核糖体生物发生和细胞增殖途径中进化上保守的成分促进端粒延长。
