CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
Open accessAbstract
CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary spastic paraplegia, it was shown that interacting partners are involved in the underlying cause of the disease. These data encouraged us to search for CHD7 binding partners by a yeast two-hybrid library screen and CHD8 was identified as an interacting partner. The result was confirmed by a direct yeast two-hybrid analysis, co-immunoprecipitation studies and by a bimolecular fluorescence complementation assay. To investigate the function of CHD7 missense mutations in the CHD7-CHD8 interacting area on the binding capacity of both proteins, we included three known missense mutations (p.His2096Arg, p.Val2102Ile and p.Gly2108Arg) and one newly identified missense mutation (p.Trp2091Arg) in the CHD7 gene and performed both direct yeast two-hybrid and co-immunoprecipitation studies. In the direct yeast two-hybrid system, the CHD7-CHD8 interaction was disrupted by the missense mutations p.Trp2091Arg, p.His2096Arg and p.Gly2108Arg, whereas in the co-immunoprecipitation studies disruption of the CHD7-CHD8 interaction by the mutations could not be observed. The results lead to the hypothesis that CHD7 and CHD8 proteins are interacting directly and indirectly via additional linker proteins. Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome.
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CHD7 is responsible for CHARGE syndrome.
“CHD7 [47], which is responsible for CHARGE syndrome”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [47]
CHD8 has ATP-dependent chromatin remodeling activity and directly interacts with CHD7.
“CHD8 possesses ATP-dependent chromatin remodeling activity and directly interacts with CHD7 [47]”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [47]
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- Authors
- Batsukh, T., Pieper, L., Koszucka, A. M., von Velsen, N., Hoyer-Fender, S., Elbracht, M., Bergman, J. E. H., Hoefsloot, L. H., & Pauli, S.
- Affiliations
- University of Göttingen (DE)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- RWTH Aachen University (DE)
- Radboud University Nijmegen (NL)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-05-07
- Volume
- 19
- Issue
- 14
- Pages
- 2858-2866
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2104655319
- Cited by
- 95
- References
- 41
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 8 · 2023: 7 · 2022: 6 · 2021: 8 · 2020: 3 · 2019: 3 · 2018: 9 · 2017: 5 · 2016: 5 · 2015: 5 · 2014: 9 · 2013: 7 · 2012: 11
- FWCI
- 3.14
- Type
- journal article
- Language
- en
- Open access
- Licence
- cc-by
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- GRO (submittedVersion, cc-by)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- Georg-August-Universität Göttingen
- Topics
- Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
- Keywords
- CHD8, CHD7, CHARGE syndrome, protein-protein interaction, missense mutations, autosomal dominant disorder
- MeSH terms
- Abnormalities, Multiple, Developmental Disabilities, Choanal Atresia, Coloboma, Deafness, DNA Helicases, DNA-Binding Proteins, Ear, Heart Defects, Congenital, HeLa Cells, Humans, Mutation, Protein Binding, Syndrome, Transcription Factors, Transfection, Two-Hybrid System Techniques, Sexual Infantilism, Protein Interaction Domains and Motifs
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