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dc.contributor.authorDi Tomaso, María Vittoria
dc.contributor.authorVázquez Alberdi, Lucía
dc.contributor.authorOlsson, Daniela
dc.contributor.authorCancela, Saira
dc.contributor.authorFernández, Anabel
dc.contributor.authorRosillo, Juan Carlos
dc.contributor.authorReyes Ábalos, Ana Laura
dc.contributor.authorÁlvarez Zabaleta, Magdalena
dc.contributor.authorCalero, Miguel 
dc.contributor.authorKun, Alejandra
dc.identifier.citationBiomolecules. 2022;12(3):456.es_ES
dc.description.abstractMyelination of the peripheral nervous system requires Schwann cells (SC) differentiation into the myelinating phenotype. The peripheral myelin protein-22 (PMP22) is an integral membrane glycoprotein, expressed in SC. It was initially described as a growth arrest-specific (gas3) gene product, up-regulated by serum starvation. PMP22 mutations were pathognomonic for human hereditary peripheral neuropathies, including the Charcot-Marie-Tooth disease (CMT). Trembler-J (TrJ) is a heterozygous mouse model carrying the same pmp22 point mutation as a CMT1E variant. Mutations in lamina genes have been related to a type of peripheral (CMT2B1) or central (autosomal dominant leukodystrophy) neuropathy. We explore the presence of PMP22 and Lamin B1 in Wt and TrJ SC nuclei of sciatic nerves and the colocalization of PMP22 concerning the silent heterochromatin (HC: DAPI-dark counterstaining), the transcriptionally active euchromatin (EC), and the nuclear lamina (H3K4m3 and Lamin B1 immunostaining, respectively). The results revealed that the number of TrJ SC nuclei in sciatic nerves was greater, and the SC volumes were smaller than those of Wt. The myelin protein PMP22 and Lamin B1 were detected in Wt and TrJ SC nuclei and predominantly in peripheral nuclear regions. The level of PMP22 was higher, and those of Lamin B1 lower in TrJ than in Wt mice. The level of PMP22 was higher, and those of Lamin B1 lower in TrJ than in Wt mice. PMP22 colocalized more with Lamin B1 and with the transcriptionally competent EC, than the silent HC with differences between Wt and TrJ genotypes. The results are discussed regarding the probable nuclear role of PMP22 and the relationship with TrJ neuropathy.es_ES
dc.description.sponsorshipThis research was funded by the Comisión Sectorial de Investigación Científica de la Universidad de la República (CSIC I+D, 2013), Agencia Nacional de Investigación e Innovación (ANII, FCE_1_2019_1_155539) and Programa de Desarrollo de Ciencias Básicas (PEDECIBA, annual fund allocation for academics).es_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI) es_ES
dc.subjectLamin B1es_ES
dc.subjectSchwann cells nucleies_ES
dc.titleColocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Micees_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.contributor.funderUniversity of the Republic (Uruguay) es_ES
dc.contributor.funderAgencia Nacional de Investigación e Innovación (Uruguay) es_ES
dc.contributor.funderPrograma de Desarrollo de las Ciencias Básicas (Uruguay) es_ES
dc.repisalud.centroISCIII::Unidad Funcional de Investigación de Enfermedades Crónicas (UFIEC)es_ES
dc.rights.accessRightsopen accesses_ES

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