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Common infections with polyomaviruses and herpesviruses and neuropsychological development at 4 years of age, the Rhea birth cohort in Crete, Greece / Marianna KARACHALIOU in Journal of Child Psychology and Psychiatry, 57-11 (November 2016)
[article]
Titre : Common infections with polyomaviruses and herpesviruses and neuropsychological development at 4 years of age, the Rhea birth cohort in Crete, Greece Type de document : Texte imprimé et/ou numérique Auteurs : Marianna KARACHALIOU, Auteur ; Leda CHATZI, Auteur ; Theano ROUMELIOTAKI, Auteur ; Mariza KAMPOURI, Auteur ; Andriani KYRIKLAKI, Auteur ; Katerina KOUTRA, Auteur ; Georgia CHALKIADAKI, Auteur ; Angelika MICHEL, Auteur ; Eftichia STIAKAKI, Auteur ; Manolis KOGEVINAS, Auteur ; Michael PAWLITA, Auteur ; Tim WATERBOER, Auteur ; Silvia DE SANJOSE, Auteur Article en page(s) : p.1268-1276 Langues : Anglais (eng) Mots-clés : Attention-deficit/hyperactivity disorder preschool children neural development epidemiologic studies Index. décimale : PER Périodiques Résumé : Background Viral infections of the central nervous system may have detrimental effects for the developing brain, but the effects of less virulent common infections are unclear. We aim to investigate the impact of common viral infections of early childhood on neuropsychological performance of children at age four. Methods We used cross-sectional data on 674 children participating at the 4 years of age follow-up of the Rhea birth cohort in Crete, Greece. Blood levels of IgG antibodies to 10 polyomaviruses (BKPyV, JCPyV, KIPyV, WUPyV, HPyV6, HPyV7, TSPyV, MCPyV, HPyV9, and HPyV10) and four herpesviruses [Epstein–Barr virus (EBV), cytomegalovirus (CMV), herpes simplex virus-1 (HSV-1), and herpes simplex virus-2 (HSV-2)] were measured using multiplex serology. Child's neuropsychological development at age four was assessed using the McCarthy Scales of Children's Abilities, the Attention-Deficit Hyperactivity Disorder Test (ADHDT), and the Strengths and Difficulties Questionnaire (SDQ). Multiple linear regression models were used to explore the associations. Results Seroprevalence to polyomaviruses ranged from 21% for HPyV9 to 82% for HPyV10. Seroprevalence for EBV was 53%, for CMV 26%, for HSV-1 3.6%, and for HSV-2 1.5%. Children seropositive to ?8 polyomaviruses had lower score in ADHDT inattention subscale [? = ?1.28 (95% CI: ?2.56, ?0.001)] and lower score in SDQ hyperactivity–inattention subscale [? = ?.99 (95% CI: ?1.60, ?0.37)] versus children seropositive to ?3 polyomaviruses. Seropositivity to BKPyV, a potential neurotropic virus, was associated with higher score in ADHDT inattention subscale [? = .87 (95% CI: 0.03, 1.71)]. Conclusions These findings suggest that acquisition of polyomaviruses during development may influence behavioral outcomes in early childhood. En ligne : http://dx.doi.org/10.1111/jcpp.12582 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=295
in Journal of Child Psychology and Psychiatry > 57-11 (November 2016) . - p.1268-1276[article] Common infections with polyomaviruses and herpesviruses and neuropsychological development at 4 years of age, the Rhea birth cohort in Crete, Greece [Texte imprimé et/ou numérique] / Marianna KARACHALIOU, Auteur ; Leda CHATZI, Auteur ; Theano ROUMELIOTAKI, Auteur ; Mariza KAMPOURI, Auteur ; Andriani KYRIKLAKI, Auteur ; Katerina KOUTRA, Auteur ; Georgia CHALKIADAKI, Auteur ; Angelika MICHEL, Auteur ; Eftichia STIAKAKI, Auteur ; Manolis KOGEVINAS, Auteur ; Michael PAWLITA, Auteur ; Tim WATERBOER, Auteur ; Silvia DE SANJOSE, Auteur . - p.1268-1276.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 57-11 (November 2016) . - p.1268-1276
Mots-clés : Attention-deficit/hyperactivity disorder preschool children neural development epidemiologic studies Index. décimale : PER Périodiques Résumé : Background Viral infections of the central nervous system may have detrimental effects for the developing brain, but the effects of less virulent common infections are unclear. We aim to investigate the impact of common viral infections of early childhood on neuropsychological performance of children at age four. Methods We used cross-sectional data on 674 children participating at the 4 years of age follow-up of the Rhea birth cohort in Crete, Greece. Blood levels of IgG antibodies to 10 polyomaviruses (BKPyV, JCPyV, KIPyV, WUPyV, HPyV6, HPyV7, TSPyV, MCPyV, HPyV9, and HPyV10) and four herpesviruses [Epstein–Barr virus (EBV), cytomegalovirus (CMV), herpes simplex virus-1 (HSV-1), and herpes simplex virus-2 (HSV-2)] were measured using multiplex serology. Child's neuropsychological development at age four was assessed using the McCarthy Scales of Children's Abilities, the Attention-Deficit Hyperactivity Disorder Test (ADHDT), and the Strengths and Difficulties Questionnaire (SDQ). Multiple linear regression models were used to explore the associations. Results Seroprevalence to polyomaviruses ranged from 21% for HPyV9 to 82% for HPyV10. Seroprevalence for EBV was 53%, for CMV 26%, for HSV-1 3.6%, and for HSV-2 1.5%. Children seropositive to ?8 polyomaviruses had lower score in ADHDT inattention subscale [? = ?1.28 (95% CI: ?2.56, ?0.001)] and lower score in SDQ hyperactivity–inattention subscale [? = ?.99 (95% CI: ?1.60, ?0.37)] versus children seropositive to ?3 polyomaviruses. Seropositivity to BKPyV, a potential neurotropic virus, was associated with higher score in ADHDT inattention subscale [? = .87 (95% CI: 0.03, 1.71)]. Conclusions These findings suggest that acquisition of polyomaviruses during development may influence behavioral outcomes in early childhood. En ligne : http://dx.doi.org/10.1111/jcpp.12582 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=295 Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation / Shin Chung KANG in Molecular Autism, 11 (2020)
[article]
Titre : Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation Type de document : Texte imprimé et/ou numérique Auteurs : Shin Chung KANG, Auteur ; Ritika JAINI, Auteur ; Masahiro HITOMI, Auteur ; Hyunpil LEE, Auteur ; Nick SARN, Auteur ; Stetson THACKER, Auteur ; Charis ENG, Auteur Article en page(s) : 43 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Creb activation Neural development Neural stem cells Neuronal maturation PTEN mutation Index. décimale : PER Périodiques Résumé : BACKGROUND: PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we continue to have a limited understanding of how PTEN disruption drives ASD pathogenesis and maintenance. METHODS: We derived neural stem cells (NSCs) from the dentate gyrus (DG) of Pten(m3m4) mice, a model that recapitulates PTEN-ASD phenotypes. We subsequently characterized the expression of stemness factors, proliferation, and differentiation of neurons and glia in Pten(m3m4) NSCs using immunofluorescent and immunoblotting approaches. We also measured Creb phosphorylation by Western blot analysis and expression of Creb-regulated genes with qRT-PCR. RESULTS: The m3m4 mutation decreases Pten localization to the nucleus and its global expression over time. Pten(m3m4) NSCs exhibit persistent stemness characteristics associated with increased proliferation and a resistance to neuronal maturation during differentiation. Given the increased proliferation of Pten(m3m4) NSCs, a significant increase in the population of immature neurons relative to mature neurons occurs, an approximately tenfold decrease in the ratio between the homozygous mutant and wildtype. There is an opposite pattern of differentiation in some Pten(m3m4) glia, specifically an increase in astrocytes. These aberrant differentiation patterns associate with changes in Creb activation in Pten(m3m4/m3m4) NSCs. We specifically observed loss of Creb phosphorylation at S133 in Pten(m3m4/m3m4) NSCs and a subsequent decrease in expression of Creb-regulated genes important to neuronal function (i.e., Bdnf). Interestingly, Bdnf treatment is able to partially rescue the stunted neuronal maturation phenotype in Pten(m3m4/m3m4) NSCs. CONCLUSIONS: Constitutional disruption of Pten nuclear localization with subsequent global decrease in Pten expression generates abnormal patterns of differentiation, a stunting of neuronal maturation. The propensity of Pten disruption to restrain neurons to a more progenitor-like state may be an important feature contributing to PTEN-ASD pathogenesis. En ligne : http://dx.doi.org/10.1186/s13229-020-00337-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 43 p.[article] Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation [Texte imprimé et/ou numérique] / Shin Chung KANG, Auteur ; Ritika JAINI, Auteur ; Masahiro HITOMI, Auteur ; Hyunpil LEE, Auteur ; Nick SARN, Auteur ; Stetson THACKER, Auteur ; Charis ENG, Auteur . - 43 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 43 p.
Mots-clés : Autism spectrum disorder Creb activation Neural development Neural stem cells Neuronal maturation PTEN mutation Index. décimale : PER Périodiques Résumé : BACKGROUND: PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we continue to have a limited understanding of how PTEN disruption drives ASD pathogenesis and maintenance. METHODS: We derived neural stem cells (NSCs) from the dentate gyrus (DG) of Pten(m3m4) mice, a model that recapitulates PTEN-ASD phenotypes. We subsequently characterized the expression of stemness factors, proliferation, and differentiation of neurons and glia in Pten(m3m4) NSCs using immunofluorescent and immunoblotting approaches. We also measured Creb phosphorylation by Western blot analysis and expression of Creb-regulated genes with qRT-PCR. RESULTS: The m3m4 mutation decreases Pten localization to the nucleus and its global expression over time. Pten(m3m4) NSCs exhibit persistent stemness characteristics associated with increased proliferation and a resistance to neuronal maturation during differentiation. Given the increased proliferation of Pten(m3m4) NSCs, a significant increase in the population of immature neurons relative to mature neurons occurs, an approximately tenfold decrease in the ratio between the homozygous mutant and wildtype. There is an opposite pattern of differentiation in some Pten(m3m4) glia, specifically an increase in astrocytes. These aberrant differentiation patterns associate with changes in Creb activation in Pten(m3m4/m3m4) NSCs. We specifically observed loss of Creb phosphorylation at S133 in Pten(m3m4/m3m4) NSCs and a subsequent decrease in expression of Creb-regulated genes important to neuronal function (i.e., Bdnf). Interestingly, Bdnf treatment is able to partially rescue the stunted neuronal maturation phenotype in Pten(m3m4/m3m4) NSCs. CONCLUSIONS: Constitutional disruption of Pten nuclear localization with subsequent global decrease in Pten expression generates abnormal patterns of differentiation, a stunting of neuronal maturation. The propensity of Pten disruption to restrain neurons to a more progenitor-like state may be an important feature contributing to PTEN-ASD pathogenesis. En ligne : http://dx.doi.org/10.1186/s13229-020-00337-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation / Z. WEN in Molecular Autism, 8 (2017)
[article]
Titre : Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation Type de document : Texte imprimé et/ou numérique Auteurs : Z. WEN, Auteur ; T. L. CHENG, Auteur ; G. Z. LI, Auteur ; S. B. SUN, Auteur ; S. Y. YU, Auteur ; Y. ZHANG, Auteur ; Y. S. DU, Auteur ; Z. QIU, Auteur Article en page(s) : 43p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Methyl-CpG-binding protein-2 (MeCP2) Neural development Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD. The parents of patients who were identified with MECP2 mutation were selected for further Sanger sequencing. Each patient accomplished the case report form including general information and clinical scales applied to assess their clinical features. Mouse cortical neurons and HEK-293 cells were cultured and transfected with MeCP2 wild-type (WT) or mutant to examine the function of autism-associated MeCP2 mutants. HEK-293 cells were used to examine the expression of MeCP2 mutant constructs with Western blot. Mouse cortical neurons were used to analyze neurites and axon outgrowth by immunofluorescence experiments. RESULTS: We identified three missense mutations of MECP2 from three autism patients by whole-exome sequencing: p.P152L (c.455C>T), p.P376S (c.1162C>T), and p.R294X (c.880C>T). Among these mutations, p.P152L and p.R294X were de novo mutations, whereas p.P376S was inherited maternally. The diagnosis of RTT was excluded in all three autism patients. Abnormalities of dendritic and axonal growth were found after autism-related MeCP2 mutants were expressed in mouse cortical neurons; suggesting that autism-related MECP2 mutations impair the proper development of neurons. CONCLUSIONS: Our study identified genetic mutations of the MECP2 gene in autism patients, which were previously considered to be associated primarily with RTT. This finding suggests that loss-of-function mutations of MECP2 may also lead to autism spectrum disorders. En ligne : http://dx.doi.org/10.1186/s13229-017-0157-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331
in Molecular Autism > 8 (2017) . - 43p.[article] Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation [Texte imprimé et/ou numérique] / Z. WEN, Auteur ; T. L. CHENG, Auteur ; G. Z. LI, Auteur ; S. B. SUN, Auteur ; S. Y. YU, Auteur ; Y. ZHANG, Auteur ; Y. S. DU, Auteur ; Z. QIU, Auteur . - 43p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 43p.
Mots-clés : Autism spectrum disorder Methyl-CpG-binding protein-2 (MeCP2) Neural development Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Methyl-CpG-binding protein-2 (MeCP2) is a critical regulator for neural development. Either loss- or gain-of-function leads to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorder (ASD). We set out to screen for MECP2 mutations in patients of ASD and determine whether these autism-related mutations may compromise the proper function of MeCP2. METHODS: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD. The parents of patients who were identified with MECP2 mutation were selected for further Sanger sequencing. Each patient accomplished the case report form including general information and clinical scales applied to assess their clinical features. Mouse cortical neurons and HEK-293 cells were cultured and transfected with MeCP2 wild-type (WT) or mutant to examine the function of autism-associated MeCP2 mutants. HEK-293 cells were used to examine the expression of MeCP2 mutant constructs with Western blot. Mouse cortical neurons were used to analyze neurites and axon outgrowth by immunofluorescence experiments. RESULTS: We identified three missense mutations of MECP2 from three autism patients by whole-exome sequencing: p.P152L (c.455C>T), p.P376S (c.1162C>T), and p.R294X (c.880C>T). Among these mutations, p.P152L and p.R294X were de novo mutations, whereas p.P376S was inherited maternally. The diagnosis of RTT was excluded in all three autism patients. Abnormalities of dendritic and axonal growth were found after autism-related MeCP2 mutants were expressed in mouse cortical neurons; suggesting that autism-related MECP2 mutations impair the proper development of neurons. CONCLUSIONS: Our study identified genetic mutations of the MECP2 gene in autism patients, which were previously considered to be associated primarily with RTT. This finding suggests that loss-of-function mutations of MECP2 may also lead to autism spectrum disorders. En ligne : http://dx.doi.org/10.1186/s13229-017-0157-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective decidual genes: effect negated by epidermal growth factor / C. M. DUZYJ in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective decidual genes: effect negated by epidermal growth factor Type de document : Texte imprimé et/ou numérique Auteurs : C. M. DUZYJ, Auteur ; M. J. PAIDAS, Auteur ; L. JEBAILEY, Auteur ; J. S. HUANG, Auteur ; E. R. BARNEA, Auteur Article en page(s) : p.36 Langues : Anglais (eng) Mots-clés : Embryogenesis Neural development Neural disease Preimplantation factor (PIF) Uterine environment Index. décimale : PER Périodiques Résumé : BACKGROUND: Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual factors. Beyond altered genetics/epigenetics, post-natal diseases may initiate at prenatal/neonatal, post-natal period, or through a continuum. Preimplantation factor (PIF) secreted by viable embryos promotes implantation and trophoblast invasion. Synthetic PIF reverses neuroinflammation in non-pregnant models. PIF targets embryo proteins that protect against oxidative stress and protein misfolding. We report of PIF's embryotrophic role and potential to prevent developmental disorders by regulating uterine milieu at implantation and first trimester. METHODS: PIF's effect on human implantation (human endometrial stromal cells (HESC)) and first-trimester decidua cultures (FTDC) was examined, by global gene expression (Affymetrix), disease-biomarkers ranking (GeneGo), neuro-specific genes (Ingenuity) and proteins (mass-spectrometry). PIF co-cultured epidermal growth factor (EGF) in both HESC and FTDC (Affymetrix) was evaluated. RESULTS: In HESC, PIF promotes neural differentiation and transmission genes (TLX2, EPHA10) while inhibiting retinoic acid receptor gene, which arrests growth. PIF promotes axon guidance and downregulates EGF-dependent neuroregulin signaling. In FTDC, PIF promotes bone morphogenetic protein pathway (SMAD1, 53-fold) and axonal guidance genes (EPH5) while inhibiting PPP2R2C, negative cell-growth regulator, involved in Alzheimer's and amyotrophic lateral sclerosis. In HESC, PIF affects angiotensin via beta-arrestin, transforming growth factor-beta (TGF-beta), notch, BMP, and wingless-int (WNT) signaling pathways that promote neurogenesis involved in childhood neurodevelopmental diseases-autism and also affected epithelial-mesenchymal transition involved in neuromuscular disorders. In FTDC, PIF upregulates neural development and hormone signaling, while downregulating genes protecting against xenobiotic response leading to connective tissue disorders. In both HESC and FTDC, PIF affects neural development and transmission pathways. In HESC interactome, PIF promotes FUS gene, which controls genome integrity, while in FTDC, PIF upregulates STAT3 critical transcription signal. EGF abolished PIF's effect on HESC, decreasing metalloproteinase and prolactin receptor genes, thereby interfering with decidualization, while in FTDC, EGF co-cultured with PIF reduced ZHX2, gene that regulates neural AFP secretion. CONCLUSIONS: PIF promotes decidual trophic genes and proteins to regulate neural development. By regulating the uterine milieu, PIF may decrease embryo vulnerability to post-natal neurodevelopmental disorders. Examination of PIF-based intervention strategies used during embryogenesis to improve pregnancy prognosis and reduce post-natal vulnerability is clearly in order. En ligne : http://dx.doi.org/10.1186/1866-1955-6-36 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.36[article] PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective decidual genes: effect negated by epidermal growth factor [Texte imprimé et/ou numérique] / C. M. DUZYJ, Auteur ; M. J. PAIDAS, Auteur ; L. JEBAILEY, Auteur ; J. S. HUANG, Auteur ; E. R. BARNEA, Auteur . - p.36.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.36
Mots-clés : Embryogenesis Neural development Neural disease Preimplantation factor (PIF) Uterine environment Index. décimale : PER Périodiques Résumé : BACKGROUND: Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual factors. Beyond altered genetics/epigenetics, post-natal diseases may initiate at prenatal/neonatal, post-natal period, or through a continuum. Preimplantation factor (PIF) secreted by viable embryos promotes implantation and trophoblast invasion. Synthetic PIF reverses neuroinflammation in non-pregnant models. PIF targets embryo proteins that protect against oxidative stress and protein misfolding. We report of PIF's embryotrophic role and potential to prevent developmental disorders by regulating uterine milieu at implantation and first trimester. METHODS: PIF's effect on human implantation (human endometrial stromal cells (HESC)) and first-trimester decidua cultures (FTDC) was examined, by global gene expression (Affymetrix), disease-biomarkers ranking (GeneGo), neuro-specific genes (Ingenuity) and proteins (mass-spectrometry). PIF co-cultured epidermal growth factor (EGF) in both HESC and FTDC (Affymetrix) was evaluated. RESULTS: In HESC, PIF promotes neural differentiation and transmission genes (TLX2, EPHA10) while inhibiting retinoic acid receptor gene, which arrests growth. PIF promotes axon guidance and downregulates EGF-dependent neuroregulin signaling. In FTDC, PIF promotes bone morphogenetic protein pathway (SMAD1, 53-fold) and axonal guidance genes (EPH5) while inhibiting PPP2R2C, negative cell-growth regulator, involved in Alzheimer's and amyotrophic lateral sclerosis. In HESC, PIF affects angiotensin via beta-arrestin, transforming growth factor-beta (TGF-beta), notch, BMP, and wingless-int (WNT) signaling pathways that promote neurogenesis involved in childhood neurodevelopmental diseases-autism and also affected epithelial-mesenchymal transition involved in neuromuscular disorders. In FTDC, PIF upregulates neural development and hormone signaling, while downregulating genes protecting against xenobiotic response leading to connective tissue disorders. In both HESC and FTDC, PIF affects neural development and transmission pathways. In HESC interactome, PIF promotes FUS gene, which controls genome integrity, while in FTDC, PIF upregulates STAT3 critical transcription signal. EGF abolished PIF's effect on HESC, decreasing metalloproteinase and prolactin receptor genes, thereby interfering with decidualization, while in FTDC, EGF co-cultured with PIF reduced ZHX2, gene that regulates neural AFP secretion. CONCLUSIONS: PIF promotes decidual trophic genes and proteins to regulate neural development. By regulating the uterine milieu, PIF may decrease embryo vulnerability to post-natal neurodevelopmental disorders. Examination of PIF-based intervention strategies used during embryogenesis to improve pregnancy prognosis and reduce post-natal vulnerability is clearly in order. En ligne : http://dx.doi.org/10.1186/1866-1955-6-36 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? / Z. MOTAHARI in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? Type de document : Texte imprimé et/ou numérique Auteurs : Z. MOTAHARI, Auteur ; S. A. MOODY, Auteur ; T. M. MAYNARD, Auteur ; A. S. LAMANTIA, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : 22q11DS Cardiovascular Cognition Copy number variants Craniofacial Neural development Polygenic Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. Subsequently, 22q11.2 deletion emerged as a major genomic lesion associated with vulnerability for several clinically defined behavioral deficits common to a number of neurodevelopmental disorders (Fernandez et al., Principles of Developmental Genetics, 2015; Robin and Shprintzen, J Pediatr 147:90-6, 2005; Schneider et al., Am J Psychiatry 171:627-39, 2014). RESULTS: The mechanistic relationships between heterozygously deleted 22q11.2 genes and 22q11DS phenotypes are still unknown. We assembled a comprehensive "line-up" of the 36 protein coding loci in the 1.5 Mb minimal critical deleted region on hChr22q11.2, plus 20 protein coding loci in the distal 1.5 Mb that defines the 3 Mb typical 22q11DS deletion. We categorized candidates based upon apparent primary cell biological functions. We analyzed 41 of these genes that encode known proteins to determine whether haploinsufficiency of any single 22q11.2 gene-a one gene to one phenotype correspondence due to heterozygous deletion restricted to that locus-versus complex multigenic interactions can account for single or multiple 22q11DS phenotypes. CONCLUSIONS: Our 22q11.2 functional genomic assessment does not support current theories of single gene haploinsufficiency for one or all 22q11DS phenotypes. Shared molecular functions, convergence on fundamental cell biological processes, and related consequences of individual 22q11.2 genes point to a matrix of multigenic interactions due to diminished 22q11.2 gene dosage. These interactions target fundamental cellular mechanisms essential for development, maturation, or homeostasis at subsets of 22q11DS phenotypic sites. En ligne : https://dx.doi.org/10.1186/s11689-019-9267-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 7 p.[article] In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? [Texte imprimé et/ou numérique] / Z. MOTAHARI, Auteur ; S. A. MOODY, Auteur ; T. M. MAYNARD, Auteur ; A. S. LAMANTIA, Auteur . - 7 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 7 p.
Mots-clés : 22q11DS Cardiovascular Cognition Copy number variants Craniofacial Neural development Polygenic Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. Subsequently, 22q11.2 deletion emerged as a major genomic lesion associated with vulnerability for several clinically defined behavioral deficits common to a number of neurodevelopmental disorders (Fernandez et al., Principles of Developmental Genetics, 2015; Robin and Shprintzen, J Pediatr 147:90-6, 2005; Schneider et al., Am J Psychiatry 171:627-39, 2014). RESULTS: The mechanistic relationships between heterozygously deleted 22q11.2 genes and 22q11DS phenotypes are still unknown. We assembled a comprehensive "line-up" of the 36 protein coding loci in the 1.5 Mb minimal critical deleted region on hChr22q11.2, plus 20 protein coding loci in the distal 1.5 Mb that defines the 3 Mb typical 22q11DS deletion. We categorized candidates based upon apparent primary cell biological functions. We analyzed 41 of these genes that encode known proteins to determine whether haploinsufficiency of any single 22q11.2 gene-a one gene to one phenotype correspondence due to heterozygous deletion restricted to that locus-versus complex multigenic interactions can account for single or multiple 22q11DS phenotypes. CONCLUSIONS: Our 22q11.2 functional genomic assessment does not support current theories of single gene haploinsufficiency for one or all 22q11DS phenotypes. Shared molecular functions, convergence on fundamental cell biological processes, and related consequences of individual 22q11.2 genes point to a matrix of multigenic interactions due to diminished 22q11.2 gene dosage. These interactions target fundamental cellular mechanisms essential for development, maturation, or homeostasis at subsets of 22q11DS phenotypic sites. En ligne : https://dx.doi.org/10.1186/s11689-019-9267-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 Neonatal brainstem dysfunction after preterm birth predicts behavioral inhibition / Ronny GEVA in Journal of Child Psychology and Psychiatry, 55-7 (July 2014)
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