Complete sequences of Schizosaccharomyces pombe subtelomeres reveal multiple patterns of genome variation.
Complete sequences of Schizosaccharomyces pombe subtelomeres reveal multiple patterns of genome variation.
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DOI：
10.1038/s41467-020-20595-1
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发表时间：
2021-01-27
影响因子：
16.6
通讯作者：
Kanoh J
中科院分区：
文献类型：
--
作者：
Oizumi Y;Kaji T;Tashiro S;Takeshita Y;Date Y;Kanoh J
许多模式生物的基因组序列已经确定，然而，重复区域，如着丝粒，端粒和亚端粒尚未完全测序。在这里，我们报告的完整序列的亚端粒同源（SH）区域的裂殖酵母裂殖酵母粟酒裂殖酵母。我们克服了技术困难，通过构建具有标准实验室菌株的单个SH区域的菌株来获得亚端粒重复序列。此外，还报道了一些S.使用先前的测序数据分析粟酒裂殖酵母。SH区全序列分析表明，每个SH区由两个不同的部分组成，多个共同的片段或块的镶嵌显示出高度的差异在亚端粒和菌株。与其他染色体区域相比，亚端粒区域在菌株之间显示出相对较高的核苷酸变异频率。此外，我们确定了亚端粒RecQ型解旋酶基因，tlh 3和tlh 4，这增加了已知的tlh 1和tlh 2，并发现tlh 1 -4基因显示出高序列变异与错义突变，插入和缺失，但没有严重影响其RNA表达。我们的研究结果表明，SH序列是高度多态性和基因组变异的热点。亚端粒的这些特征可能有助于基因组的多样性，反过来，也有助于各种疾病。由于序列数据的测序和组装中的技术困难，长重复区域的测序和作图可能具有挑战性。本文报道了裂殖酵母裂殖酵母亚端粒同源区（SH）的全序列，揭示了裂殖酵母基因组高度多态性和热点变异特征。
Genome sequences have been determined for many model organisms; however, repetitive regions such as centromeres, telomeres, and subtelomeres have not yet been sequenced completely. Here, we report the complete sequences of subtelomeric homologous (SH) regions of the fission yeast Schizosaccharomyces pombe. We overcame technical difficulties to obtain subtelomeric repetitive sequences by constructing strains that possess single SH regions of a standard laboratory strain. In addition, some natural isolates of S. pombe were analyzed using previous sequencing data. Whole sequences of SH regions revealed that each SH region consists of two distinct parts with mosaics of multiple common segments or blocks showing high variation among subtelomeres and strains. Subtelomere regions show relatively high frequency of nucleotide variations among strains compared with the other chromosomal regions. Furthermore, we identified subtelomeric RecQ-type helicase genes, tlh3 and tlh4, which add to the already known tlh1 and tlh2, and found that the tlh1–4 genes show high sequence variation with missense mutations, insertions, and deletions but no severe effects on their RNA expression. Our results indicate that SH sequences are highly polymorphic and hot spots for genome variation. These features of subtelomeres may have contributed to genome diversity and, conversely, various diseases. Sequencing and mapping of long repetitive regions can be challenging due to technical difficulties in sequencing and assembly of the sequence data. Here authors report the complete sequences of subtelomeric homologous (SH) regions of the fission yeast Schizosaccharomyces pombe to reveal highly polymorphic and hot spots for genome variation features.
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DOI：
10.1038/nrg3296
发表时间：
2012-11
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
DOI：
10.1126/science.1170633
发表时间：
2009-11-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
de Lange T
通讯作者：
de Lange T
影响因子：
10.5
作者：
Ferreira, MG;Cooper, JP
通讯作者：
Cooper, JP
影响因子：
56.9
作者：
CHIKASHIGE, Y;DING, DQ;HIRAOKA, Y
通讯作者：
HIRAOKA, Y
影响因子：
16.6
作者：
Ivanova, Tsvetomira;Maier, Michael;Mendoza, Manuel
通讯作者：
Mendoza, Manuel