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Gene trapping reveals a new transcriptionally active genome element: The chromosome-specific clustered trap region
Genes to Cells ( IF 1.3 ) Pub Date : 2021-08-21 , DOI: 10.1111/gtc.12890 Iyo Takeda 1 , Masatake Araki 1 , Kei-Ichiro Ishiguro 2 , Toshinori Ohga 1 , Kouki Takada 1 , Yusuke Yamaguchi 1 , Koichi Hashimoto 1 , Takuma Kai 1 , Naomi Nakagata 1 , Mai Imasaka 1 , Kumiko Yoshinobu 1 , Kimi Araki 1
Genes to Cells ( IF 1.3 ) Pub Date : 2021-08-21 , DOI: 10.1111/gtc.12890 Iyo Takeda 1 , Masatake Araki 1 , Kei-Ichiro Ishiguro 2 , Toshinori Ohga 1 , Kouki Takada 1 , Yusuke Yamaguchi 1 , Koichi Hashimoto 1 , Takuma Kai 1 , Naomi Nakagata 1 , Mai Imasaka 1 , Kumiko Yoshinobu 1 , Kimi Araki 1
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Nearly half of the human genome consists of repetitive sequences such as long interspersed nuclear elements. The relationship between these repeating sequences and diseases has remained unclear. Gene trapping is a useful technique for disrupting a gene and expressing a reporter gene by using the promoter activity of the gene. The analysis of trapped genes revealed a new genome element—the chromosome-specific clustered trap (CSCT) region. For any examined sequence within this region, an equivalent was found using the BLAT of the University of California, Santa Cruz (UCSC) Genome Browser. CSCT13 mapped to chromosome 13 and contained only three genes. To elucidate its in vivo function, the whole CSCT13 region (1.6 Mbp) was deleted using the CRISPR/Cas9 system in mouse embryonic stem cells, and subsequently, a CSCT13 knockout mouse line was established. The rate of homozygotes was significantly lower than expected according to Mendel's laws. In addition, the number of offspring obtained by mating homozygotes was significantly smaller than that obtained by crossing controls. Furthermore, CSCT13 might have an effect on meiotic homologous recombination. This study identifies a transcriptionally active CSCT with an important role in mouse development.
中文翻译：
基因捕获揭示了一个新的转录活性基因组元件：染色体特异性聚集捕获区
人类基因组的近一半由重复序列组成，例如长散布的核元素。这些重复序列与疾病之间的关系仍不清楚。基因捕获是一种利用基因的启动子活性破坏基因和表达报告基因的有用技术。对捕获基因的分析揭示了一个新的基因组元素——染色体特异性聚集捕获 (CSCT) 区域。对于该区域内的任何检查序列，使用加州大学圣克鲁斯分校 (UCSC) 基因组浏览器的 BLAT 发现了等效序列。CSCT13 定位于 13 号染色体，仅包含三个基因。为了阐明其体内功能，使用 CRISPR/Cas9 系统在小鼠胚胎干细胞中删除了整个 CSCT13 区域（1.6 Mbp），随后，建立了CSCT13基因敲除小鼠系。根据孟德尔定律，纯合子的比率明显低于预期。此外，通过纯合子交配获得的后代数量明显少于通过交叉对照获得的后代数量。此外，CSCT13 可能对减数分裂同源重组有影响。本研究确定了一种在小鼠发育中具有重要作用的转录活性 CSCT。
更新日期：2021-08-21
中文翻译：
基因捕获揭示了一个新的转录活性基因组元件：染色体特异性聚集捕获区
人类基因组的近一半由重复序列组成，例如长散布的核元素。这些重复序列与疾病之间的关系仍不清楚。基因捕获是一种利用基因的启动子活性破坏基因和表达报告基因的有用技术。对捕获基因的分析揭示了一个新的基因组元素——染色体特异性聚集捕获 (CSCT) 区域。对于该区域内的任何检查序列，使用加州大学圣克鲁斯分校 (UCSC) 基因组浏览器的 BLAT 发现了等效序列。CSCT13 定位于 13 号染色体，仅包含三个基因。为了阐明其体内功能，使用 CRISPR/Cas9 系统在小鼠胚胎干细胞中删除了整个 CSCT13 区域（1.6 Mbp），随后，建立了CSCT13基因敲除小鼠系。根据孟德尔定律，纯合子的比率明显低于预期。此外，通过纯合子交配获得的后代数量明显少于通过交叉对照获得的后代数量。此外，CSCT13 可能对减数分裂同源重组有影响。本研究确定了一种在小鼠发育中具有重要作用的转录活性 CSCT。
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