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  Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.

Batsukh, T., Schulz, Y., Wolf, S., Rabe, T. I., Oellerich, T., Urlaub, H., et al. (2012). Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One, 7: 0052460. doi:10.1371/journal.pone.0052640.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-CB1B-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0027-C7B4-B
Genre: Journal Article

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Batsukh, T., Author
Schulz, Y., Author
Wolf, S., Author
Rabe, T. I.1, Author              
Oellerich, T.2, Author              
Urlaub, H.2, Author              
Schaefer , I. M., Author
Pauli, S., Author
Affiliations:
1Research Group of Molecular Cell Differentiation, MPI for biophysical chemistry, Max Planck Society, ou_578588              
2Research Group of Bioanalytical Mass Spectrometry, MPI for biophysical chemistry, Max Planck Society, ou_578613              

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 Abstract: Background Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes. We previously demonstrated that a part of human CHD7 interacts with a part of human CHD8, another chromodomain helicase DNA binding protein presumably being involved in the pathogenesis of neurodevelopmental (NDD) and autism spectrum disorders (ASD). Because identification of novel CHD7 and CHD8 interacting partners will provide further insights into the pathogenesis of CHARGE syndrome and ASD/NDD, we searched for additional associated polypeptides using the method of stable isotope labeling by amino acids in cell culture (SILAC) in combination with mass spectrometry. Principle findings The hitherto uncharacterized FAM124B (Family with sequence similarity 124B) was identified as a potential interaction partner of both CHD7 and CHD8. We confirmed the result by co-immunoprecipitation studies and showed a direct binding to the CHD8 part by direct yeast two hybrid experiments. Furthermore, we characterized FAM124B as a mainly nuclear localized protein with a widespread expression in embryonic and adult mouse tissues. Conclusion Our results demonstrate that FAM124B is a potential interacting partner of a CHD7 and CHD8 containing complex. From the overlapping expression pattern between Chd7 and Fam124B at murine embryonic day E12.5 and the high expression of Fam124B in the developing mouse brain, we conclude that Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders.

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Language(s): eng - English
 Dates: 2012-12-21
 Publication Status: Published online
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 Rev. Method: Peer
 Identifiers: DOI: 10.1371/journal.pone.0052640
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Title: PLoS One
Source Genre: Journal
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Pages: - Volume / Issue: 7 Sequence Number: 0052460 Start / End Page: - Identifier: -