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Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity. A rare recessive BAF variant, Ala12Thr, causes the premature aging syndrome, N\u00e9stor\u2013Guillermo progeria syndrome (NGPS). Here, we report the first dominant pathogenic BAF variant, Gly16Arg, identified in a patient presenting with progressive neuromuscular weakness. Although disease variants carry nearby amino acid substitutions, cellular and biochemical properties are distinct. In contrast to NGPS, Gly16Arg patient fibroblasts show modest changes in nuclear lamina structure and increases in repressive marks associated with heterochromatin. Structural studies reveal that the Gly16Arg substitution introduces a salt bridge between BAF monomers, reducing the conformation ensemble available to BAF. We show that this structural change increases the double-stranded DNA binding affinity of BAF Gly16Arg. Together, our findings suggest that BAF Gly16Arg has an increased chromatin occupancy that leads to epigenetic changes and impacts nuclear functions. These observations provide a new example of how a missense mutation can change a protein conformational equilibrium to cause a dominant disease and extend our understanding of mechanisms by which BAF function impacts human health.<\/jats:p>","DOI":"10.3390\/cells12060847","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T03:03:23Z","timestamp":1678331003000},"page":"847","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy"],"prefix":"10.3390","volume":"12","author":[{"given":"Agathe","family":"Marcelot","sequence":"first","affiliation":[{"name":"Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Universit\u00e9 Paris-Saclay, 91198 Gif-sur-Yvette, France"},{"name":"Expression G\u00e9n\u00e9tique Microbienne, UMR 8261, CNRS, Institut de Biologie Physico-Chimique (IBPC), Universit\u00e9 Paris Cit\u00e9, 75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6554-8187","authenticated-orcid":false,"given":"Felipe","family":"Rodriguez-Tirado","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Cuniasse","sequence":"additional","affiliation":[{"name":"Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Universit\u00e9 Paris-Saclay, 91198 Gif-sur-Yvette, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-ling","family":"Joiner","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Miron","sequence":"additional","affiliation":[{"name":"Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Universit\u00e9 Paris-Saclay, 91198 Gif-sur-Yvette, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey A.","family":"Soshnev","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Developmental and Regenerative Biology, The University of Texas at San Antonio, San Antonio, TX 78249, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mimi","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miles A.","family":"Pufall","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"},{"name":"Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6353-7900","authenticated-orcid":false,"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7680-1088","authenticated-orcid":false,"given":"Sophie","family":"Zinn-Justin","sequence":"additional","affiliation":[{"name":"Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Universit\u00e9 Paris-Saclay, 91198 Gif-sur-Yvette, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9275-1407","authenticated-orcid":false,"given":"Pamela K.","family":"Geyer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ceb.2011.03.002","article-title":"Nuclear organization: Taking a position on gene expression","volume":"23","author":"Geyer","year":"2011","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1101\/gad.960502","article-title":"Nuclear lamins: Building blocks of nuclear architecture","volume":"16","author":"Goldman","year":"2002","journal-title":"Genes Dev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/978-1-4899-8032-8_17","article-title":"DNA damage and lamins","volume":"773","author":"Gonzalo","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1242\/jcs.112.15.2485","article-title":"LAP2 binding protein 1 (L2BP1\/BAF) is a candidate mediator of LAP2-chromatin interaction","volume":"112","author":"Furukawa","year":"1999","journal-title":"J. Cell Sci."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ceb.2015.05.006","article-title":"Barrier to Autointegration Factor (BANF1): Interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria","volume":"34","author":"Jamin","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Montes de Oca, R., Shoemaker, C.J., Gucek, M., Cole, R.N., and Wilson, K.L. (2009). Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0007050"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1042\/BST20110724","article-title":"Evolvement of LEM proteins as chromatin tethers at the nuclear periphery","volume":"39","author":"Brachner","year":"2011","journal-title":"Biochem. Soc. 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Cell Biol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"jcs246546","DOI":"10.1242\/jcs.246546","article-title":"Diverse cellular functions of barrier-to-autointegration factor and its roles in disease","volume":"133","author":"Sears","year":"2020","journal-title":"J. Cell Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"3290","DOI":"10.1073\/pnas.0408364102","article-title":"Barrier-to-autointegration factor is required to segregate and enclose chromosomes within the nuclear envelope and assemble the nuclear lamina","volume":"102","author":"Margalit","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1242\/jcs.00682","article-title":"Barrier-to-autointegration factor plays crucial roles in cell cycle progression and nuclear organization in Drosophila","volume":"116","author":"Furukawa","year":"2003","journal-title":"J. Cell Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"8997","DOI":"10.1073\/pnas.150240197","article-title":"Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex","volume":"97","author":"Zheng","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"dev186171","DOI":"10.1242\/dev.186171","article-title":"Survival of Drosophila germline stem cells requires the chromatin-binding protein Barrier-to-autointegration factor","volume":"147","author":"Duan","year":"2020","journal-title":"Development"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ajhg.2011.04.010","article-title":"Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome","volume":"88","author":"Puente","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1091\/mbc.e05-04-0356","article-title":"Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo","volume":"17","author":"Bengtsson","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1091\/mbc.e05-12-1179","article-title":"The vaccinia-related kinases phosphorylate the N\u2019 terminus of BAF, regulating its interaction with DNA and its retention in the nucleus","volume":"17","author":"Nichols","year":"2006","journal-title":"Mol. Biol. Cell"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1091\/mbc.e13-10-0603","article-title":"Depletion of the protein kinase VRK1 disrupts nuclear envelope morphology and leads to BAF retention on mitotic chromosomes","volume":"25","author":"Molitor","year":"2014","journal-title":"Mol. Biol. Cell"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1083\/jcb.200706067","article-title":"NHK-1 phosphorylates BAF to allow karyosome formation in the Drosophila oocyte nucleus","volume":"179","author":"Lancaster","year":"2007","journal-title":"J. Cell Biol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/sj.emboj.7601470","article-title":"Caenorhabditis elegans BAF-1 and its kinase VRK-1 participate directly in post-mitotic nuclear envelope assembly","volume":"26","author":"Gorjanacz","year":"2007","journal-title":"EMBO J."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"3841","DOI":"10.1093\/nar\/gkab184","article-title":"Di-phosphorylated BAF shows altered structural dynamics and binding to DNA, but interacts with its nuclear envelope partners","volume":"49","author":"Marcelot","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.tcb.2007.02.004","article-title":"Barrier-to-autointegration factor\u2014A BAFfling little protein","volume":"17","author":"Margalit","year":"2007","journal-title":"Trends Cell Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"16610","DOI":"10.1073\/pnas.0909077106","article-title":"Barrier-to-autointegration factor (BAF) condenses DNA by looping","volume":"106","author":"Skoko","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/j.cell.2017.07.038","article-title":"DNA Cross-Bridging Shapes a Single Nucleus from a Set of Mitotic Chromosomes","volume":"170","author":"Samwer","year":"2017","journal-title":"Cell"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0092-8674(00)81785-7","article-title":"A SWI\/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro","volume":"95","author":"Armstrong","year":"1998","journal-title":"Cell"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.cell.2012.04.043","article-title":"Coordination of kinase and phosphatase activities by Lem4 enables nuclear envelope reassembly during mitosis","volume":"150","author":"Asencio","year":"2012","journal-title":"Cell"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4106","DOI":"10.1083\/jcb.201804018","article-title":"PP2A-B55 promotes nuclear envelope reformation after mitosis in Drosophila","volume":"217","author":"Mehsen","year":"2018","journal-title":"J. Cell Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1074\/jbc.M113.492777","article-title":"Dephosphorylation of barrier-to-autointegration factor by protein phosphatase 4 and its role in cell mitosis","volume":"289","author":"Zhuang","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/s42003-020-01182-y","article-title":"A fraction of barrier-to-autointegration factor (BAF) associates with centromeres and controls mitosis progression","volume":"3","author":"Lipinszki","year":"2020","journal-title":"Commun. Biol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"200343","DOI":"10.1098\/rsob.200343","article-title":"Novel perspectives of target-binding by the evolutionarily conserved PP4 phosphatase","volume":"10","author":"Karman","year":"2020","journal-title":"Open Biol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"167888","DOI":"10.1016\/j.jmb.2022.167888","article-title":"The Conformation of the Intrinsically Disordered N-Terminal Region of Barrier-to-Autointegration Factor (BAF) is Regulated by pH and Phosphorylation","volume":"435","author":"Marcelot","year":"2023","journal-title":"J. Mol. Biol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"42252","DOI":"10.1074\/jbc.M509917200","article-title":"Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1","volume":"280","author":"Lee","year":"2005","journal-title":"J. Biol. Chem."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"580","DOI":"10.4161\/nucl.2.6.17960","article-title":"Barrier-to-Autointegration Factor influences specific histone modifications","volume":"2","author":"Andreassen","year":"2011","journal-title":"Nucleus"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Paquet, N., Box, J.K., Ashton, N.W., Suraweera, A., Croft, L.V., Urquhart, A.J., Bolderson, E., Zhang, S.D., O\u2019Byrne, K.J., and Richard, D.J. (2014). Nestor-Guillermo Progeria Syndrome: A biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. BMC Mol. Biol., 15.","DOI":"10.1186\/s12867-014-0027-z"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"775441","DOI":"10.3389\/fcell.2021.775441","article-title":"The Impact of Rare Human Variants on Barrier-To-Auto-Integration Factor 1 (Banf1) Structure and Function","volume":"9","author":"Rose","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3389\/fcell.2019.00048","article-title":"Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including \u2018Healthy Lipid\u2019 Emerin p.D149H in the ExAC Cohort","volume":"7","author":"Dharmaraj","year":"2019","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1002\/ajmg.a.61777","article-title":"An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood","volume":"182","author":"Fisher","year":"2020","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"9260","DOI":"10.1093\/nar\/gkac726","article-title":"The BAF A12T mutation disrupts lamin A\/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells","volume":"50","author":"Janssen","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"R100","DOI":"10.1186\/gb-2006-7-10-r100","article-title":"CellProfiler: Image analysis software for identifying and quantifying cell phenotypes","volume":"7","author":"Carpenter","year":"2006","journal-title":"Genome. Biol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"8963","DOI":"10.1073\/pnas.0402943101","article-title":"Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome","volume":"101","author":"Goldman","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/s41586-020-3017-y","article-title":"Histone H1 loss drives lymphoma by disrupting 3D chromatin architecture","volume":"589","author":"Yusufova","year":"2021","journal-title":"Nature"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"10460","DOI":"10.1093\/nar\/gky736","article-title":"Structural analysis of the ternary complex between lamin A\/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases","volume":"46","author":"Samson","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/prot.20449","article-title":"The CCPN data model for NMR spectroscopy: Development of a software pipeline","volume":"59","author":"Vranken","year":"2005","journal-title":"Proteins"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"9130","DOI":"10.1021\/bi000572w","article-title":"Structural basis of DNA bridging by barrier-to-autointegration factor","volume":"39","author":"Umland","year":"2000","journal-title":"Biochemistry"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"6289","DOI":"10.1063\/1.1401821","article-title":"On the calculation of entropy from covariance matrices of the atomic fluctuations","volume":"115","author":"Andricioaei","year":"2001","journal-title":"J. Chem. Phys."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1002\/jcc.20289","article-title":"Scalable molecular dynamics with NAMD","volume":"26","author":"Phillips","year":"2005","journal-title":"J. Comput. Chem."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1002\/jcc.23354","article-title":"CHARMM36 all-atom additive protein force field: Validation based on comparison to NMR data","volume":"34","author":"Huang","year":"2013","journal-title":"J. Comput. Chem."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: Visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J. Mol. Graph."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"135357","DOI":"10.1016\/j.neulet.2020.135357","article-title":"Genetic mechanisms of peripheral nerve disease","volume":"742","author":"Stavrou","year":"2021","journal-title":"Neurosci. Lett."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1007\/s11357-021-00510-2","article-title":"A neuromuscular perspective of sarcopenia pathogenesis: Deciphering the signaling pathways involved","volume":"44","author":"Ferreira","year":"2022","journal-title":"Geroscience"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"8703","DOI":"10.1073\/pnas.0602569103","article-title":"Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging","volume":"103","author":"Shumaker","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ajhg.2009.07.006","article-title":"Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene","volume":"85","author":"Renbaum","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"e599","DOI":"10.1212\/NXG.0000000000000599","article-title":"Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene","volume":"7","author":"Sung","year":"2021","journal-title":"Neurol. Genet."},{"key":"ref_56","first-page":"119","article-title":"VRK2, a Candidate Gene for Psychiatric and Neurological Disorders","volume":"4","author":"Li","year":"2018","journal-title":"Mol. Neuropsychiatry"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/6\/847\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:51:30Z","timestamp":1760122290000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/6\/847"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,9]]},"references-count":56,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["cells12060847"],"URL":"https:\/\/doi.org\/10.3390\/cells12060847","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,9]]}}}