Analysis and application of newly discovered rat L1 retotransposon

新发现的大鼠L1转座子的分析及应用

• 批准号: 14580796
• 负责人: MORI Masayuki
• 金额: $ 2.37万
• 依托单位: Shinshu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2002
• 资助国家: 日本
• 起止时间: 2002 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14580796/
• 关键词: retrotransposon; rat; L1; mutation; Chediak-Higashi; Lyst

We have obtained the following data on L1b sequence found in the rat lysosomal trafficking regulator (Lyst) gene.1.Molecular genetic analysis of the Lyst gene of -ACI-beige rats, which is a model of human. Chediak-Higashi syndrome revealed deletion of exons 28,29,and 30 of the gene owing to recombination between L1 elements in the gene of the mutant rats. Nucleotide sequence analysis of one of the L1 elements (tentatively designated L1b) revealed that it had two intact at open reading frames (ORF1 and ORF2), a promotor-like sequence with Sp1 box in its 5' upstream region, a poly A sequence, in its 3' downstream region, and short direct repeats on up-and downstream region, which are hallmarks of active retrotransposons.2.The rat Lyst gene was mapped on the telomeric region of chromosome 17 by genetic linkage analysis utilizing (DA/Ham-Lyst^<bg> x BN)x DA/Ham-Lyst^<bg> baclcross rats.3.An allele-specific genotyping method for the Lyst gene, which enabled discrimination of the mutant Lyst^<bg>, Lyst^<bg-Kyo> alleles, and the normal Lyst allele, was developed. It was also demonstrated that the deletion break points in L1 elements were different between the Lyst^<bg> and Lyst^<bg-Kyo> alleles.4.Serial analysis gene expression (SAGE) analysis revealed that the transcription level of L1 in the mouse testis was very low.5.Retrotransposon activity was demonstrated in the assay utilizing HeLa cell culture assay.

我们获得了以下关于大鼠溶酶体运输调节因子（Lyst）基因中L1 b序列的数据。1.人类模型-ACI-米色大鼠Lyst基因的分子遗传学分析。Chediak-Higashi综合征显示，由于突变大鼠基因中L1元件之间的重组，基因的外显子28、29和30缺失。一个L1元件的核苷酸序列分析（暂命名为L1 b）显示，它有两个完整的开放阅读框架（ORF 1和ORF 2），在其5'上游区具有Sp1盒的启动子样序列，在其3'下游区具有聚腺苷酸序列，并且在上游和下游区具有短的同向重复序列，2.利用（DA/Ham-Lyst^ x BN）x DA/Ham-Lyst^回交大鼠的遗传连锁分析，将大鼠Lyst基因定位于17号染色体的端粒区<bg><bg>。3.建立了Lyst基因的等位基因特异性分型方法，该方法能够区分突变型Lyst^<bg>、Lyst^<bg-Kyo>等位基因和正常的Lyst等位基因。4<bg><bg-Kyo>. SAGE分析表明，L1基因在小鼠睾丸中的转录水平很低。5. HeLa细胞培养试验表明，L1基因具有反转录转座子活性。

项目成果

Masui N, Nishikawa T, Takagi Y, Mori M, Suzuki T, Sato K.: "The rat lysosomal trafficking regulator (Lyst) gene is mapped on the telomeric region of chromosome 17."Experimental Animals. 52(1). 89-91 (2003)

Masui N、Nishikawa T、Takagi Y、Mori M、Suzuki T、Sato K.：“大鼠溶酶体运输调节因子 (Lyst) 基因定位在 17 号染色体的端粒区域。”实验动物。

Yao J, Chiba T, Sakai J, Hirose K, Yamamoto M, Hada A, Kuramoto K, Higuchi K, Mori M: "Mouse testis transcriptome revealed using serial analysis of gene expression."Mammalian Genome. (in press).

Yao J、Chiba T、Sakai J、Hirose K、Yamamoto M、Hada A、Kuramoto K、Higuchi K、Mori M：“利用基因表达的系列分析揭示小鼠睾丸转录组。”哺乳动物基因组。

Guo Z, Mori M, Fu X, Yao J, Xing Y, Korenaga T, Li G, Matsushita T, Hosokawa M, Higuchi K: "Amyloidosis modifier genes in less amyloidogenic A/J mouse strain."Laboratory Investigations. 83(11). 1605-1613 (2003)

Guo Z、Mori M、Fu X、Yao J、Xing Y、Korenaga T、Li G、Matsushita T、Hosokawa M、Higuchi K：“淀粉样变性较少的 A/J 小鼠品系中的淀粉样变修饰基因。”实验室研究。

Mori M, Yamasaki K, Nakanishi S, Kitada K, Higuchi K, Namiki C, Hamada S, Serikawa T.: "A new beige mutant rat ACI/N-Lyst^<bg-Kyo>."Experimental Animals. 52(1). 31-36 (2003)

Mori M、Yamasaki K、Nakanishi S、Kitada K、Higuchi K、Namiki C、Hamada S、Serikawa T.：“一种新的米色突变大鼠 ACI/N-Lyst^<bg-Kyo>。”实验动物。

Motoyuki Shimizu: "A congenic mouse and candidate gene at the chr 13 locus regulating bone density"Mammalian Genome. 13(7). 335-340 (2002)

Motoyuki Shimizu：“同类小鼠和调节骨密度的第 13 位基因座的候选基因”哺乳动物基因组。