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

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 def...

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Published inBiochimica et biophysica acta. Molecular basis of disease Vol. 1865; no. 9; pp. 2083 - 2093
Main Authors Jensen, Lars R., Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rácz, Ildikó, Adler, Thure, Prehn, Cornelia, Hans, Wolfgang, Rozman, Jan, Becker, Lore, Aguilar-Pimentel, Juan Antonio, Puk, Oliver, Moreth, Kristin, Dopatka, Monika, Walther, Diego J., von Bohlen und Halbach, Viola, Rath, Matthias, Delatycki, Martin, Bert, Bettina, Fink, Heidrun, Blümlein, Katharina, Ralser, Markus, Van Dijck, Anke, Kooy, Frank, Stark, Zornitza, Müller, 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, Valérie, de Angelis, Martin Hrabě, von Bohlen und Halbach, Oliver, Ropers, Hans-Hilger, Kuss, Andreas W.
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Published Netherlands Elsevier B.V 01.09.2019
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Abstract 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. •FTSJ1 encodes a tRNA methyltransferase.•Mutations in FTSJ1 cause non-syndromic intellectual disability (ID).•Ftsj1 gene trapped mice are affected by ID and show other syndromic features.•Some of these features were identified in patients with FTSJ1 mutations.
AbstractList 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.
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. •FTSJ1 encodes a tRNA methyltransferase.•Mutations in FTSJ1 cause non-syndromic intellectual disability (ID).•Ftsj1 gene trapped mice are affected by ID and show other syndromic features.•Some of these features were identified in patients with FTSJ1 mutations.
Author de Angelis, Martin Hrabě
Scherthan, Harry
Klingenspor, Martin
Walther, Diego J.
Zimmer, Andreas
Busch, Dirk
Adamski, Jerzy
Bert, Bettina
Kuss, Andreas W.
Adler, Thure
Wurst, Wolfgang
Garrett, Lillian
Jensen, Lars R.
von Bohlen und Halbach, Viola
Rathkolb, Birgit
Fink, Heidrun
Rath, Matthias
Hans, Wolfgang
Puk, Oliver
Becker, Lore
Graw, Jochen
Rozman, Jan
Hölter, Sabine M.
Prehn, Cornelia
Delatycki, Martin
Gecz, Jozef
Müller, Sabine
Van Dijck, Anke
Klopstock, Thomas
Rácz, Ildikó
Dopatka, Monika
Fuchs, Helmut
von Bohlen und Halbach, Oliver
Blümlein, Katharina
Wolf, Eckhard
Gailus-Durner, Valérie
Ropers, Hans-Hilger
Aguilar-Pimentel, Juan Antonio
Moreth, Kristin
Stark, Zornitza
Ralser, Markus
Kooy, Frank
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Issue 9
Keywords X-linked
Mouse model
Intellectual disability
Ftsj1
tRNA methyltransferase
Language English
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Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
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SSID ssj0000670
Score 2.4221253
Snippet Mutations in the X chromosomal tRNA 2′‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected...
Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected...
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pubmed
elsevier
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SubjectTerms Animals
Behavior, Animal
Cognition Disorders - etiology
Cognition Disorders - pathology
Disease Models, Animal
Family
Female
Ftsj1
Intellectual disability
Intellectual Disability - etiology
Intellectual Disability - pathology
Male
Mental Retardation, X-Linked - genetics
Methyltransferases - genetics
Methyltransferases - metabolism
Methyltransferases - physiology
Mice
Mice, Inbred C57BL
Mice, Knockout
Mouse model
Mutation
Nociceptive Pain - etiology
Nociceptive Pain - pathology
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
tRNA methyltransferase
X-linked
Title A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene
URI https://dx.doi.org/10.1016/j.bbadis.2018.12.011
https://www.ncbi.nlm.nih.gov/pubmed/30557699
Volume 1865
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