The Impact of Rare Human Variants on Barrier-To-Auto-Integration Factor 1 (Banf1) Structure and Function
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Description
Barrier-to-Autointegration Factor 1 (Banf1/BAF) is a critical component of the nuclear envelope and is involved in the maintenance of chromatin structure and genome stability. Banf1 is a small DNA binding protein that is conserved amongst multicellular eukaryotes. Banf1 functions as a dimer, and binds non-specifically to the phosphate backbone of DNA, compacting the DNA in a looping process. The loss of Banf1 results in loss of nuclear envelope integrity and aberrant chromatin organisation. Significantly, mutations in Banf1 are associated with the severe premature ageing syndrome, Néstor–Guillermo Progeria Syndrome. Previously, rare human variants of Banf1 have been identified, however the impact of these variants on Banf1 function has not been explored. Here, using in silico modelling, biophysical and cell-based approaches, we investigate the effect of rare human variants on Banf1 structure and function. We show that these variants do not significantly alter the secondary structure of Banf1, but several single amino acid variants in the N- and C-terminus of Banf1 impact upon the DNA binding ability of Banf1, without altering Banf1 localisation or nuclear integrity. The functional characterisation of these variants provides further insight into Banf1 structure and function and may aid future studies examining the potential impact of Banf1 function on nuclear structure and human health.
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ID Code: | 227506 | ||||||||||||
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Item Type: | Contribution to Journal (Journal Article) | ||||||||||||
Refereed: | Yes | ||||||||||||
ORCID iD: |
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Additional Information: | Funding Information: NG, JB, and MA. are supported by Advance Queensland Early-career Research Fellowships. DR is supported by a Chenhall Research Foundation Fellowship. | ||||||||||||
Measurements or Duration: | 10 pages | ||||||||||||
Keywords: | BANF1, DNA binding, human variants, nuclear envelope, nuclear integrity | ||||||||||||
DOI: | 10.3389/fcell.2021.775441 | ||||||||||||
ISSN: | 2296-634X | ||||||||||||
Pure ID: | 104902538 | ||||||||||||
Divisions: | Current > Research Centres > Centre for Genomics and Personalised Health Current > QUT Faculties and Divisions > Faculty of Science Current > Schools > School of Chemistry & Physics Current > QUT Faculties and Divisions > Faculty of Health Current > Schools > School of Biomedical Sciences |
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Funding Information: | NG, JB, and MA. are supported by Advance Queensland Early-career Research Fellowships. DR is supported by a Chenhall Research Foundation Fellowship. | ||||||||||||
Copyright Owner: | 2021 The Author(s) | ||||||||||||
Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||||||||||||
Deposited On: | 20 Jan 2022 05:55 | ||||||||||||
Last Modified: | 02 Mar 2024 10:21 |
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