Hemizygosity of δ-Catenin (CTNND2) Is Associated with Severe Mental Retardation in Cri-du-Chat Syndrome

Medina, Miguel; Rc, Marinescu; Overhauser, Joan; Kosik, KS

doi:10.1006/geno.1999.6090

Cited by 163 publications

(135 citation statements)

References 28 publications

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“…CTNND2 is highly expressed in foetal brain and has an important role in neuronal functioning, adhesion, and migration. 36,37 It is involved in early embryogenesis and encodes an adhesive junction-associated protein of the armadillo/b-catenin superfamily. 38 CTNND2 has been associated with intellectual disability in cri-du-chat syndrome 36 (OMIM 604275), autism when deleted, 38,39 and schizophrenia when duplicated.…”

Section: Discussionmentioning

confidence: 99%

“…36,37 It is involved in early embryogenesis and encodes an adhesive junction-associated protein of the armadillo/b-catenin superfamily. 38 CTNND2 has been associated with intellectual disability in cri-du-chat syndrome 36 (OMIM 604275), autism when deleted, 38,39 and schizophrenia when duplicated. 37 Previous studies have reported both dosage variation and disruptive effects resulting from CNVs involving CTNND2.…”

Section: Discussionmentioning

confidence: 99%

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Rare copy number variation in cerebral palsy

et al. 2013

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Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (o1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders. Ten of the 50 cases (20%) had rare CNVs of potential relevance to CP; there were a total of 14 CNVs, which were observed in o0.1% (o8/8329) of the control population. Eight inherited from an unaffected mother: a 751-kb deletion including FSCB, a 1.5-Mb duplication of 7q21.13, a 534-kb duplication of 15q11.2, a 446-kb duplication including CTNND2, a 219-kb duplication including MCPH1, a 169-kb duplication of 22q13.33, a 64-kb duplication of MC2R, and a 135-bp exonic deletion of SLC06A1. Three inherited from an unaffected father: a 386-kb deletion of 12p12.2-p12.1, a 234-kb duplication of 10q26.13, and a 4-kb exonic deletion of COPS3. The inheritance was unknown for three CNVs: a 157-bp exonic deletion of ACOX1, a 693-kb duplication of 17q25.3, and a 265-kb duplication of DAAM1. This is the first systematic study of CNVs in CP, and although it did not identify de novo mutations, has shown inherited, rare CNVs involving potentially pathogenic genes and pathways requiring further investigation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Rare copy number variation in cerebral palsy

et al. 2013

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“…For example, the hemizygous loss of the chromosomal 5p15.2 region, which contains the human δ-catenin gene, results in severe mental retardation associated with Cri-du-Chat syndrome [21]. On the other hand, the overexpression of human δ-catenin has been reported in several human tumors including breast and prostate carcinomas [6].…”

Section: Discussionmentioning

confidence: 99%

Identification of E2F1 as a positive transcriptional regulator for δ-catenin

Kim

et al. 2008

Biochemical and Biophysical Research Communications

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Abstractδ-Catenin is upregulated in human carcinomas. However, little is known about the potential transcriptional factors that regulate δ-catenin expression in cancer. Using a human δ-catenin reporter system, we have screened several nuclear signaling modulators to test whether they can affect δ-catenin transcription. Among β-catenin/LEF-1, Notch1, and E2F1, E2F1 dramatically increased δ-catenin-luciferase activities while β-catenin/LEF-1 induced only a marginal increase. Rb suppressed the upregulation of δ-catenin-luciferase activities induced by E2F1 but did not interact with δ-catenin. RT-PCR and Western blot analyses in 4 different prostate cancer cell lines revealed that regulation of δ-catenin expression is controlled mainly at the transcriptional level. Interestingly, the effects of E2F1 on δ-catenin expression were observed only in human cancer cells expressing abundant endogenous δ-catenin. These studies identify E2F1 as a positive transcriptional regulator for δ-catenin, but further suggest the presence of strong negative regulator(s) for δ-catenin in prostate cancer cells with minimal endogenous δ-catenin expression.

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“…␦-Catenin was originally discovered as an interactor with presenilin 1 (37), whose mutation causes early-onset familial Alzheimer's disease. In addition, hemizygosity of ␦-catenin is associated with severe mental retardation in the cri-du-chat syndrome that is associated with severe mental retardation (38). The hippocampal expression of several proteins involved in microtubule formation was reduced 1 h after water maze training.…”

Section: Discussionmentioning

confidence: 99%

Memory-specific temporal profiles of gene expression in the hippocampus

Cavallaro

D’Agata

Manickam

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

178

146

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Many experiments in the past have demonstrated the requirement of de novo gene expression during the long-term retention of learning and memory. Although previous studies implicated individual genes or genetic pathways in learning and memory, they did not uncover the collective behaviors or patterns of the genes. We have used genome-scale screening to analyze gene expression during spatial learning of rats in the Morris water maze. Our results show distinct temporal gene expression profiles associated with learning and memory. Exogenous administration of one peptide whose sustained increase during memory retention was implicated by microarray analysis, fibroblast growth factor (FGF)-18, improved spatial learning behavior, suggesting that pharmacological modulation of pathways and targets identified may allow new therapeutic approaches for improving learning and memory. Results of this study also suggest that while learning and physical activity involve common groups of genes, the behavior of learning and memory emerges from unique patterns of gene expression across time.

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Hemizygosity of δ-Catenin (CTNND2) Is Associated with Severe Mental Retardation in Cri-du-Chat Syndrome

Cited by 163 publications

References 28 publications

Rare copy number variation in cerebral palsy

Rare copy number variation in cerebral palsy

Identification of E2F1 as a positive transcriptional regulator for δ-catenin

Memory-specific temporal profiles of gene expression in the hippocampus

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