Universidad Peruana Cayetano Heredia

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

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dc.contributor.author Mochida, G.H.
dc.contributor.author Ganesh, V.S.
dc.contributor.author De Michelena, M.I.
dc.contributor.author Dias, H.
dc.contributor.author Atabay, K.D.
dc.contributor.author Kathrein, K.L.
dc.contributor.author Huang, H.-T.
dc.contributor.author Sean Hill, R.
dc.contributor.author Felie, J.M.
dc.contributor.author Rakiec, D.
dc.contributor.author Gleason, D.
dc.contributor.author Hill, A.D.
dc.contributor.author Malik, A.N.
dc.contributor.author Barry, B.J.
dc.contributor.author Partlow, J.N.
dc.contributor.author Tan, W.-H.
dc.contributor.author Glader, L.J.
dc.contributor.author James Barkovich, A.
dc.contributor.author Dobyns, W.B.
dc.contributor.author Zon, L.I.
dc.contributor.author Walsh, C.A.
dc.date.accessioned 2022-01-18T19:26:49Z
dc.date.available 2022-01-18T19:26:49Z
dc.date.issued 2012
dc.identifier.uri https://hdl.handle.net/20.500.12866/10919
dc.description.abstract Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation. Chromatin immunoprecipitation suggests loss of the normal INK4A repression by BMI in these cells. Morpholino-based knockdown of zebrafish chmp1a resulted in brain defects resembling those seen after bmi1a and bmi1b knockdown, which were partially rescued by INK4A ortholog knockdown, further supporting links between CHMP1A and BMI1-mediated regulation of INK4A. Our results suggest that CHMP1A serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells. en_US
dc.language.iso eng
dc.publisher Springer Nature
dc.relation.ispartofseries Nature Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Humans en_US
dc.subject Controlled Study en_US
dc.subject Animal Cell en_US
dc.subject Nuclear Magnetic Resonance Imaging en_US
dc.subject Protein Expression en_US
dc.subject Nucleotide Sequence en_US
dc.subject Unclassified Drug en_US
dc.subject Polymorphism Single Nucleotide en_US
dc.subject Genetic Association en_US
dc.subject Immunohistochemistry en_US
dc.subject Cell Proliferation en_US
dc.subject Immunoreactivity en_US
dc.subject BMI1 Protein en_US
dc.subject Brain Cortex en_US
dc.subject Brain Development en_US
dc.subject Brain Malformation en_US
dc.subject Cell Nucleus Matrix en_US
dc.subject Cerebellar Cortex en_US
dc.subject Cerebellum en_US
dc.subject Charged Multivesicular Body Protein 1a en_US
dc.subject Chromatin Immunoprecipitation en_US
dc.subject Danio Rerio en_US
dc.subject Hypoplasia en_US
dc.subject Ink4a Protein en_US
dc.subject Linkage Analysis en_US
dc.subject Lymphoblastoid Cell en_US
dc.subject Microcephaly en_US
dc.subject Mitogen-Activated Protein Kinase 7 en_US
dc.subject Multivesicular Body en_US
dc.subject Neural Stem Cells en_US
dc.subject Neuroepithelium en_US
dc.subject NIH 3T3 Cells en_US
dc.subject Stem Cell en_US
dc.subject Zebra Fish en_US
dc.title CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/ng.2425
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1546-1718


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