ArticleProceedings of the National Academy of Sciences of the United States of America1997
Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 108 citations in OpenAlex.
- DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion.Cell & bioscience · 2023Article
- Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential of iPS cell technology.Psychiatry and clinical neurosciences · 2023Review
- Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment.Science advances · 2022Article
- Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?International journal of molecular sciences · 2022Review
- Positively selected genes in the hoary bat (PeerJ · 2022Article
- 22q11.2 Low Copy Repeats Expanded in the Human Lineage.Frontiers in genetics · 2021Article
- Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Human molecular genetics · 2018Article
- A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Molecular psychiatry · 2017Article
- Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.Progress in neurobiology · 2015Review
- A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Human molecular genetics · 2015Article
- Neuronal migration abnormalities and its possible implications for schizophrenia.Frontiers in neuroscience · 2015Review
- Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Losing your inhibition: linking cortical GABAergic interneurons to schizophrenia.Neurobiology of disease · 2013Review
- Selective overexpression of Comt in prefrontal cortex rescues schizophrenia-like phenotypes in a mouse model of 22q11 deletion syndrome.Translational psychiatry · 2012Article
- Molecular mechanisms in 22q11 deletion syndrome.Schizophrenia bulletin · 2011Review
- Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.Behavior genetics · 2011Review
- Dysregulation of presynaptic calcium and synaptic plasticity in a mouse model of 22q11 deletion syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion.Nature neuroscience · 2008Article
- Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches.PloS one · 2007Article
- When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.Gene expression · 2007Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
The region of human chromosome 22q11 is prone to rearrangements. The resulting chromosomal abnormalities are involved in Velo-cardio-facial and DiGeorge syndromes (VCFS and DGS) (deletions), "cat eye" syndrome (duplications), and certain types of tumors (translocations). As a prelude to the development of mouse models for VCFS/DGS by generating targeted deletions in the mouse genome, we examined the organization of genes from human chromosome 22q11 in the mouse. Using genetic linkage analysis and detailed physical mapping, we show that genes from a relatively small region of human 22q11 are distributed on three mouse chromosomes (MMU6, MMU10, and MMU16). Furthermore, although the region corresponding to about 2.5 megabases of the VCFS/DGS critical region is located on mouse chromosome 16, the relative organization of the region is quite different from that in humans. Our results show that the instability of the 22q11 region is not restricted to humans but may have been present throughout evolution. The results also underscore the importance of detailed comparative mapping of genes in mice and humans as a prerequisite for the development of mouse models of human diseases involving chromosomal rearrangements.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.