Cook Daniel E, Zdraljevic Stefan, Tanny Robyn E, Seo Beomseok, Riccardi David D, Noble Luke M, Rockman Matthew V, Alkema Mark J, Braendle Christian, Kammenga Jan E, Wang John, Kruglyak Leonid, Félix Marie-Anne, Lee Junho, Andersen Erik C
Department of Molecular Biosciences, Northwestern University, Evanston, Illinois 60208 Interdisciplinary Biological Science Program, Northwestern University, Evanston, Illinois 60208.
Department of Molecular Biosciences, Northwestern University, Evanston, Illinois 60208.
Genetics. 2016 Sep;204(1):371-83. doi: 10.1534/genetics.116.191148. Epub 2016 Jul 22.
Telomeres are involved in the maintenance of chromosomes and the prevention of genome instability. Despite this central importance, significant variation in telomere length has been observed in a variety of organisms. The genetic determinants of telomere-length variation and their effects on organismal fitness are largely unexplored. Here, we describe natural variation in telomere length across the Caenorhabditis elegans species. We identify a large-effect variant that contributes to differences in telomere length. The variant alters the conserved oligonucleotide/oligosaccharide-binding fold of protection of telomeres 2 (POT-2), a homolog of a human telomere-capping shelterin complex subunit. Mutations within this domain likely reduce the ability of POT-2 to bind telomeric DNA, thereby increasing telomere length. We find that telomere-length variation does not correlate with offspring production or longevity in C. elegans wild isolates, suggesting that naturally long telomeres play a limited role in modifying fitness phenotypes in C. elegans.
端粒参与染色体的维持以及基因组不稳定的预防。尽管具有这种核心重要性,但在多种生物体中已观察到端粒长度存在显著差异。端粒长度变异的遗传决定因素及其对生物体适应性的影响在很大程度上尚未得到探索。在这里,我们描述了秀丽隐杆线虫物种中端粒长度的自然变异。我们鉴定出一个对端粒长度差异有显著贡献的变异体。该变异改变了端粒保护蛋白2(POT - 2)保守的寡核苷酸/寡糖结合结构域,POT - 2是人类端粒封端保护复合物亚基的同源物。该结构域内的突变可能会降低POT - 2结合端粒DNA的能力,从而增加端粒长度。我们发现,在秀丽隐杆线虫野生分离株中,端粒长度变异与后代产量或寿命无关,这表明自然存在的长端粒在改变秀丽隐杆线虫的适应性表型方面作用有限。