{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T05:05:15Z","timestamp":1786251915343,"version":"build-2736575974"},"reference-count":83,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CONACyT","award":["CB-2015-258268-B"],"award-info":[{"award-number":["CB-2015-258268-B"]}]},{"name":"CONACyT","award":["CF-2019\/2472263"],"award-info":[{"award-number":["CF-2019\/2472263"]}]},{"name":"CONACyT","award":["628619"],"award-info":[{"award-number":["628619"]}]},{"name":"CONACyT doctoral fellowship","award":["CB-2015-258268-B"],"award-info":[{"award-number":["CB-2015-258268-B"]}]},{"name":"CONACyT doctoral fellowship","award":["CF-2019\/2472263"],"award-info":[{"award-number":["CF-2019\/2472263"]}]},{"name":"CONACyT doctoral fellowship","award":["628619"],"award-info":[{"award-number":["628619"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dystrophin Dp71 is the most abundant product of the Duchenne muscular dystrophy gene in the nervous system, and mutations impairing its function have been associated with the neurodevelopmental symptoms present in a third of DMD patients. Dp71 is required for the clustering of neurotransmitter receptors and the neuronal differentiation of cultured cells; nonetheless, its precise role in neuronal cells remains to be poorly understood. In this study, we analyzed the effect of two pathogenic DMD gene point mutations on the Dp71 function in neurons. We engineered C272Y and E299del mutations to express GFP-tagged Dp71 protein variants in N1E-115 and SH-SY5Y neuronal cells. Unexpectedly, the ectopic expression of Dp71 mutants resulted in protein aggregation, which may be mechanistically caused by the effect of the mutations on Dp71 structure, as predicted by protein modeling and molecular dynamics simulations. Interestingly, Dp71 mutant variants acquired a dominant negative function that, in turn, dramatically impaired the distribution of different Dp71 protein partners, including \u03b2-dystroglycan, nuclear lamins A\/C and B1, the high-mobility group (HMG)-containing protein (BRAF35) and the BRAF35-family-member inhibitor of BRAF35 (iBRAF). Further analysis of Dp71 mutants provided evidence showing a role for Dp71 in modulating both heterochromatin marker H3K9me2 organization and the neuronal genes\u2019 expression, via its interaction with iBRAF and BRAF5.<\/jats:p>","DOI":"10.3390\/ijms231911876","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T23:39:31Z","timestamp":1665272371000},"page":"11876","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2536-3049","authenticated-orcid":false,"given":"Claudia Ivette","family":"Rugerio-Mart\u00ednez","sequence":"first","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"},{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Ramos","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abel","family":"Segura-Olvera","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia Mireya","family":"Murillo-Melo","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3281-4757","authenticated-orcid":false,"given":"Yessica Sarai","family":"Tapia-Guerrero","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"Arg\u00fcello-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norberto","family":"Leyva-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6388-2459","authenticated-orcid":false,"given":"Oscar","family":"Hern\u00e1ndez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bulmaro","family":"Cisneros","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de Mexico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5269-7124","authenticated-orcid":false,"given":"Roc\u00edo","family":"Su\u00e1rez-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis Guillermo Ibarra Ibarra, Ciudad de Mexico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-020-01430-8","article-title":"Global epidemiology of Duchenne muscular dystrophy: An updated systematic review and meta-analysis","volume":"15","author":"Crisafulli","year":"2020","journal-title":"Orphanet J. 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