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Jensen, L.R.* ; Garrett, L. ; Hölter, S.M. ; Rathkolb, B. ; Rácz, I. ; Adler, T. ; Prehn, C. ; Hans, W. ; Rozman, J. ; Becker, L. ; Aguilar-Pimentel, J.A. ; Puk, O. ; Moreth, K. ; Dopatka, M.* ; Walther, D.J.* ; von Bohlen Und Halbach, V.* ; Rath, M.* ; Delatycki, M.* ; Bert, B.* ; Fink, H.* ; Blümlein, K.* ; Ralser, M.* ; Van Dijck, A.* ; Kooy, F.* ; Stark, Z.* ; Müller, S.* ; Scherthan, H.* ; Gecz, J.* ; Wurst, W. ; Wolf, E.* ; Zimmer, A.* ; Klingenspor, M.* ; Graw, J. ; Klopstock, T.* ; Busch, D.* ; Adamski, J. ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M. ; von Bohlen und Halbach, O.* ; Ropers, H.H.* ; Kuss, A.W.*

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

Biochim. Biophys. Acta-Mol. Basis Dis. 1865, 2083-2093 (2018)
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Ftsj1 ; Trna Methyltransferase ; Intellectual Disability ; X-linked ; Mouse Model; Syndromic Mental-retardation; Transfer-rna; Splicing Mutation; Preribosomal Rna; Anticodon Loop; Expression; Nsun2; Methyltransferase; Corticosterone; Methylation
Language english
Publication Year 2018
HGF-reported in Year 2018
ISSN (print) / ISBN 0925-4439
e-ISSN 1878-2434
Journal Biochimica et Biophysica Acta - Molecular Basis of Disease
Quellenangaben Volume: 1865, Issue: 9, Pages: 2083-2093 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place Radarweg 29, 1043 Nx Amsterdam, Netherlands
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
Research Unit Genome Analysis Center (IEG-GAC)
POF-Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500692-001
G-500500-001
G-500600-001
A-630440-001
G-500500-002
G-500500-005
DOI 10.1016/j.bbadis.2018.12.011
WOS ID WOS:000476965200001
Scopus ID 85064902079
PubMed ID 30557699
Erfassungsdatum 2018-12-21
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