A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene

Jensen Lars R.; Garrett Lillian; Hoelter Sabine M.; Rathkolb Birgit; Racz Ildiko; Adler Thure; Prehn Cornelia; Hans Wolfgang; Rozman Jan; Becker Lore; Aguilar-Pimentel Juan Antonio; Puk Oliver; Moreth Kristin; Dopatka Monika; Walther Diego J.; Halbach Viola von Bohlen Und; Rath Matthias; Delatycki Martin; Bert Bettina; Fink Heidrun; Bluemlein Katharina; Ralser Markus; Van Dijck Anke; Kooy Frank; Stark Zornitza; Mueller Sabine; Scherthan Harry; Gecz Jozef; Wurst Wolfgang; Wolf Eckhard; Zimmer Andreas; Klingenspor Martin; Graw Jochen; Klopstock Thomas; Busch Dirk; Adamski Jerzy; Fuchs Helmut; Gailus-Durner Valerie; de Angelis Martin Hrabe; Halbach Oliver von Bohlen Und; Ropers Hans-Hilger; Kuss Andreas W.

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A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene

机译：X型-O-甲基转移酶FTSJ1基因突变引起的智力残疾智障残疾鼠标模型

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Mutations in the X chromosomal tRNA 2'-O-methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathological mechanism involved in the aetiology of FTSJ1 deficiency-related cognitive impairment, we generated and characterized an Ftsj1 deficient mouse line based on the gene trapped stem cell line RRD143. Apart from an impaired learning capacity these mice presented with several statistically significantly altered features related to behaviour, pain sensing, bone and energy metabolism, the immune and the hormone system as well as gene expression. These findings show that Ftsj1 deficiency in mammals is not phenotypically restricted to the brain but affects various organ systems. Re-examination of ID patients with FTSJ1 mutations from two previously reported families showed that several features observed in the mouse model were recapitulated in some of the patients. Though the clinical spectrum related to Ftsj1 deficiency in mouse and man is variable, we suggest that an increased pain threshold may be more common in patients with FTSJ1 deficiency. Our findings demonstrate novel roles for Ftsj1 in maintaining proper cellular and tissue functions in a mammalian organism.

机译：X染色体TRNA 2'-O-甲基转移酶FTSJ1中的突变引起智力残疾（ID）。虽然基因普遍表达受影响的个体，但没有超出ID的一致临床特征。为了研究涉及FTSJ1缺陷相关认知障碍的病症的病理机制，我们基于基因被捕获的干细胞系RRD143生成并表征了FTSJ1缺陷的小鼠线。除了学习能力受损的情况外，这些小鼠呈现出与行为，疼痛感测，骨骼和能量代谢，免疫和激素系统以及基因表达有关的几种统计学显着改变的特征。这些发现表明，哺乳动物的FTSJ1缺乏不是对大脑的表型不受限制，而是影响各种器官系统。重新检测来自两个先前报道的家庭的FTSJ1突变的患者表明，在某些患者中概括了小鼠模型中观察到的几个特征。虽然与小鼠和人类的FTSJ1缺乏有关的临床谱是可变的，但我们建议在FTSJ1缺乏的患者中增加疼痛阈值可能更常见。我们的研究结果表明了FTSJ1在哺乳动物生物中保持适当的细胞和组织功能的新颖作用。

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《Biochimica et biophysica acta. Molecular basis of disease: BBA》 |2019年第9期|共11页
作者
Jensen Lars R.; Garrett Lillian; Hoelter Sabine M.; Rathkolb Birgit; Racz Ildiko; Adler Thure; Prehn Cornelia; Hans Wolfgang; Rozman Jan; Becker Lore; Aguilar-Pimentel Juan Antonio; Puk Oliver; Moreth Kristin; Dopatka Monika; Walther Diego J.; Halbach Viola von Bohlen Und; Rath Matthias; Delatycki Martin; Bert Bettina; Fink Heidrun; Bluemlein Katharina; Ralser Markus; Van Dijck Anke; Kooy Frank; Stark Zornitza; Mueller Sabine; Scherthan Harry; Gecz Jozef; Wurst Wolfgang; Wolf Eckhard; Zimmer Andreas; Klingenspor Martin; Graw Jochen; Klopstock Thomas; Busch Dirk; Adamski Jerzy; Fuchs Helmut; Gailus-Durner Valerie; de Angelis Martin Hrabe; Halbach Oliver von Bohlen Und; Ropers Hans-Hilger; Kuss Andreas W.;
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作者单位

Univ Med Greifswald Interfac Inst Genet &

Funct Genom Dept Funct Genom Felix Hausdorff Str 8 D;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Dev Genet Ingolstadter Landstr 1 D;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

Charite Dept Expt Neurol Berlin Germany;

Max Planck Inst Mol Genet Berlin Germany;

Univ Med Greifswald Inst Anat &

Cell Biol Greifswald Germany;

Univ Med Greifswald Dept Human Genet Greifswald Germany;

Murdoch Childrens Res Inst Bruce Lefroy Ctr Genet Hlth Res Melbourne Vic Australia;

Free Univ Inst Pharmacol &

Toxicol FB Vet Med Berlin Germany;

Free Univ Inst Pharmacol &

Toxicol FB Vet Med Berlin Germany;

Fraunhofer Inst Toxicol &

Expt Med Hannover Germany;

Francis Crick Inst Mol Biol Metab Lab 1 Midland Rd London NW1 1AT England;

Univ Antwerp Univ Antwerp Hosp Dept Neurol Edegem Belgium;

Univ Antwerp Univ Antwerp Hosp Dept Neurol Edegem Belgium;

Murdoch Childrens Res Inst Bruce Lefroy Ctr Genet Hlth Res Melbourne Vic Australia;

Ernst Moritz Arndt Univ Greifswald Inst Biochem Greifswald Germany;

Univ Ulm Bundeswehr Inst Radiobiol Munich Germany;

Univ Adelaide Robinson Res Inst Sch Med Adelaide SA 5000 Australia;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Dev Genet Ingolstadter Landstr 1 D;

Ludwig Maximilians Univ Munchen Inst Mol Anim Breeding &

Biotechnol Gene Ctr Feodor Lynen Str 25;

Univ Bonn Inst Mol Psychiat Fac Med Sigmund Freud Str 25 D-53127 Bonn Germany;

Tech Univ Munich EKFZ Else Kroner Fresenius Ctr Nutr Med Gregor Mendel Str 2 D-85350 Freising;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen Inst Dev Genet Ingolstadter Landstr 1 D;

Deutsch Inst Neurodegenerat Erkrankungen DZNE Site Munich D-80336 Munich Germany;

Tech Univ Munich Inst Med Microbiol Immunol &

Hyg Trogerstr 30 D-81675 Munich Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

German Res Ctr Environm Hlth Helmholtz Zentrum Munchen German Mouse Clin Neuherberg Germany;

Univ Med Greifswald Inst Anat &

Cell Biol Greifswald Germany;

Max Planck Inst Mol Genet Berlin Germany;

Univ Med Greifswald Interfac Inst Genet &

Funct Genom Dept Funct Genom Felix Hausdorff Str 8 D;

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原文格式 PDF
正文语种 eng
中图分类分子生物学;
关键词
Ftsj1; tRNA methyltransferase; Intellectual disability; X-linked; Mouse model;

机译：FTSJ1;TRNA甲基转移酶;智力残疾;X-LINKED;鼠标模型;

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专利

1. A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene [J] . Jensen Lars R., Garrett Lillian, Hoelter Sabine M., Biochimica et biophysica acta. Molecular basis of disease: BBA . 2019,第9期

机译：X型-O-甲基转移酶FTSJ1基因突变引起的智力残疾智障残疾鼠标模型
2. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene [J] . Andrea Ciammola, Paola Carrera, Alessio Di Fonzo, Parkinsonism & related disorders . 2017,第期

机译：X-Linked Parkinsonisom，具有由Rab39B基因的新突变和体细胞镶嵌引起的智力残疾
3. Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5'of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability [J] . BonnetC., Masurel-PauletA., KhanA.A., Human mutation . 2012,第2期

机译：探索基因沙漠中致病突变的潜在作用：GRIA3非编码元件5'的重复与GRIA3沉默和X连锁智力障碍相关
4. Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy [C] . Serguei Kozlov, Leslie Mounkes, Dedra Cutler, Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：小鼠LMNA基因中的突变导致普鲁比亚，肌肉营养不良和心肌病
5. Phenotypes and Variants in Cases Submitted for X-Linked Intellectual Disability (XLID) Gene Panel Testing. [D] . Hill-Harfe, Katherine Leigh. 2014

机译：为X连锁智力障碍（XLID）基因面板测试提交的病例中的表型和变异形式。
6. Defects in tRNA anticodon loop 2-O-methylation are implicated in non-syndromic X-linked intellectual disability due to mutations in FTSJ1 [O] . Michael P. Guy, Marie Shaw, Catherine L. Weiner, -1

机译：tRNA反密码子环2-O-甲基化的缺陷与FTSJ1突变引起的非综合征性X连锁智力障碍有关
7. Defects in tRNA anticodon loop 2′-O-methylation are implicated in nonsyndromic X-linked intellectual disability due to mutations in FTSJ1 [O] . Guy, M., Shaw, M., Weiner, C., 2015

机译：tRNa反密码子环2'-O-甲基化的缺陷与FTsJ1突变引起的非综合征X连锁智力障碍有关

A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene

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