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Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons / M. JUNG in Molecular Autism, 9 (2018)
[article]
Titre : Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons Type de document : Texte imprimé et/ou numérique Auteurs : M. JUNG, Auteur ; B. M. HABERLE, Auteur ; T. TSCHAIKOWSKY, Auteur ; M. T. WITTMANN, Auteur ; E. A. BALTA, Auteur ; V. C. STADLER, Auteur ; C. ZWEIER, Auteur ; A. DORFLER, Auteur ; C. J. GLOECKNER, Auteur ; D. C. LIE, Auteur Article en page(s) : 20p. Langues : Anglais (eng) Mots-clés : Neurodevelopment Pitt-Hopkins syndrome Schizophrenia TCF4 Index. décimale : PER Périodiques Résumé : Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. We used immunofluorescent staining to identify candidate regions whose development and function depend on TCF4. In addition, we determined TCF4 expression in the developing rhesus monkey brain and in the developing and adult human brain through analysis of transcriptomic datasets and compared the expression pattern between species. Finally, we morphometrically and histologically analyzed selected brain structures in Tcf4-haploinsufficient mice and compared our morphometric findings to neuroanatomical findings in PTHS patients. Results: TCF4 is broadly expressed in cortical and subcortical structures in the developing and adult mouse brain. The TCF4 expression pattern was highly similar between humans, rhesus monkeys, and mice. Moreover, Tcf4 haploinsufficiency in mice replicated structural brain anomalies observed in PTHS patients. Conclusion: Our data suggests that TCF4 is involved in the development and function of multiple brain regions and indicates that its regulation is evolutionary conserved. Moreover, our data validate Tcf4-haploinsufficient mice as a model to study the neurodevelopmental basis of PTHS. En ligne : http://dx.doi.org/10.1186/s13229-018-0200-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354
in Molecular Autism > 9 (2018) . - 20p.[article] Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons [Texte imprimé et/ou numérique] / M. JUNG, Auteur ; B. M. HABERLE, Auteur ; T. TSCHAIKOWSKY, Auteur ; M. T. WITTMANN, Auteur ; E. A. BALTA, Auteur ; V. C. STADLER, Auteur ; C. ZWEIER, Auteur ; A. DORFLER, Auteur ; C. J. GLOECKNER, Auteur ; D. C. LIE, Auteur . - 20p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 20p.
Mots-clés : Neurodevelopment Pitt-Hopkins syndrome Schizophrenia TCF4 Index. décimale : PER Périodiques Résumé : Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. We used immunofluorescent staining to identify candidate regions whose development and function depend on TCF4. In addition, we determined TCF4 expression in the developing rhesus monkey brain and in the developing and adult human brain through analysis of transcriptomic datasets and compared the expression pattern between species. Finally, we morphometrically and histologically analyzed selected brain structures in Tcf4-haploinsufficient mice and compared our morphometric findings to neuroanatomical findings in PTHS patients. Results: TCF4 is broadly expressed in cortical and subcortical structures in the developing and adult mouse brain. The TCF4 expression pattern was highly similar between humans, rhesus monkeys, and mice. Moreover, Tcf4 haploinsufficiency in mice replicated structural brain anomalies observed in PTHS patients. Conclusion: Our data suggests that TCF4 is involved in the development and function of multiple brain regions and indicates that its regulation is evolutionary conserved. Moreover, our data validate Tcf4-haploinsufficient mice as a model to study the neurodevelopmental basis of PTHS. En ligne : http://dx.doi.org/10.1186/s13229-018-0200-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354 Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo / Vladimir GRUBIŠI? in Autism Research, 8-5 (October 2015)
[article]
Titre : Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo Type de document : Texte imprimé et/ou numérique Auteurs : Vladimir GRUBIŠI?, Auteur ; Andrew J. KENNEDY, Auteur ; J. David SWEATT, Auteur ; Vladimir PARPURA, Auteur Article en page(s) : p.629-633 Langues : Anglais (eng) Mots-clés : PTHS mouse model gut transit TCF4 E2-2 ITF2 Index. décimale : PER Périodiques Résumé : Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mice have normal gut in gross anatomical terms. However, the assessment of gut transit indicates that, while whole-gut transit velocity was similar between the groups, the upper GI and distal colon transit velocities were significantly reduced in the PTHS mice. This is the first evidence of specific gut related problems in the PTHS mice. Our study also validates the TCF4 functional knockout mice as an animal model to study PTHS-associated GI disturbances. Autism Res 2015, 8: 629–633. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Autism Research > 8-5 (October 2015) . - p.629-633[article] Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo [Texte imprimé et/ou numérique] / Vladimir GRUBIŠI?, Auteur ; Andrew J. KENNEDY, Auteur ; J. David SWEATT, Auteur ; Vladimir PARPURA, Auteur . - p.629-633.
Langues : Anglais (eng)
in Autism Research > 8-5 (October 2015) . - p.629-633
Mots-clés : PTHS mouse model gut transit TCF4 E2-2 ITF2 Index. décimale : PER Périodiques Résumé : Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mice have normal gut in gross anatomical terms. However, the assessment of gut transit indicates that, while whole-gut transit velocity was similar between the groups, the upper GI and distal colon transit velocities were significantly reduced in the PTHS mice. This is the first evidence of specific gut related problems in the PTHS mice. Our study also validates the TCF4 functional knockout mice as an animal model to study PTHS-associated GI disturbances. Autism Res 2015, 8: 629–633. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270