ArticleInvestigative ophthalmology & visual science2015
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 30 citations in OpenAlex.
- Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Disease models & mechanisms · 2026Article
- Mutation of CHD7 impairs the output of neuroepithelium transition that is reversed by the inhibition of EZH2.Molecular psychiatry · 2025Article
- CHARGE syndrome in a child with aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Deletion of theInternational journal of molecular sciences · 2023Article
- Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome.Journal of anatomy · 2023Article
- Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.Experimental eye research · 2023Article
- Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.BMC ophthalmology · 2022Article
- Craniofacial and cardiac defects inFrontiers in cell and developmental biology · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine.Trends in molecular medicine · 2021Review
- Epigenetic regulation of retinal development.Epigenetics & chromatin · 2021Review
- Advances in Chromodomain Helicase DNA-Binding (CHD) Proteins Regulating Stem Cell Differentiation and Human Diseases.Frontiers in cell and developmental biology · 2021Review
- Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.Frontiers in neurology · 2021Review
- Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.Journal of developmental biology · 2020Review
- Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Frontiers in immunology · 2020Review
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- A New Model for Congenital Vestibular Disorders.Journal of the Association for Research in Otolaryngology : JARO · 2019Article
- Relationship between neural crest cell specification and rare ocular diseases.Journal of neuroscience research · 2019Review
Corrections and comments
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3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeCHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary tract abnormalities, and Ear abnormalities and deafness) is the second-leading cause of deaf-blindness after Usher syndrome. Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients. We tested the hypothesis that tissue-specific mutant mice provide models for molecularly dissecting CHD7 functions during eye development.
methodsThe conditional Chd7flox allele was mated together with tissue-specific Cre transgenes. Immunohistochemistry was used to determine the normal CHD7 pattern in the early eye primordia and to assess Chd7 mutants for expression of region-specific protein markers.
resultsCHD7 is present in the neural ectoderm and surface ectoderm of the eye. Deletion from neural and surface ectoderm results in severely dysmorphic eyes generally lacking recognizable optic cup structures and small lenses. Deletion from the neural ectoderm results in similar defects. Deletion from the surface ectoderm results in eyes with smaller lenses. Lens tissue and the major subdivisions of the neural ectoderm are present following conditional deletion of Chd7 from the neural ectoderm. Closure of the optic fissure depends on the Chd7 gene dose within the neural ectoderm.
conclusionsEye development requires CHD7 in multiple embryonic tissues. Lens development requires CHD7 in the surface ectoderm, whereas optic cup and stalk morphogenesis require CHD7 in the neural ectoderm. CHD7 is not absolutely required for specification of the major subdivisions within the neural ectoderm. As in humans, normal eye development in mice is sensitive to Chd7 haploinsufficiency. These data indicate the Chd7 mutant mice are models for determining the molecular etiology of ocular defects in CHARGE syndrome.
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