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The CASK gene is regulated by X-chromosome inactivation, which results in a mosaic distribution of CASK-expressing and CASK-deficient neurons in the female brain. This mosaic distribution is believed to play a key role in the pathophysiology of X-linked neurological disorders; however, the detailed brain structure has not been extensively characterized. In this study, we used CASK heterozygous knockout (CASK-hKO) mice combined with X-linked GFP reporter mice to investigate motor abilities and the distribution of CASK-expressing cells in the brains of female CASK-hKO mice. The CASK-hKO mice exhibited motor deficits and cerebellar hypoplasia similar to those observed in patients with CASK-related disorders. Interestingly, although half of the cerebellar granule cells were CASK-negative during early postnatal development, almost all Purkinje cells and cerebellar granule cells were CASK-positive in adulthood, suggesting that CASK expression may determine the survival of cerebellar granule cells during postnatal development. We also analyzed CASK-hypomorphic mice, which express 50% less CASK than wild-type mice, and compared hemizygous males and heterozygous females. The CASK-hypomorphic heterozygous females displayed a thinner cerebellar cortex and a higher probability of CASK-positive granule cells in CASK-hKO females, suggesting that the survival of cerebellar granule cells is regulated by a combination of cell-autonomous and cell-competitive mechanisms between CASK-expressing and CASK-deficient cells, which are generated by X-chromosome inactivation. These findings provide new insights into the relationship between the mosaic distribution of cells established by X-chromosome inactivation and the pathophysiology of CASK-related disorders.<\/jats:p>","DOI":"10.3390\/cells14100735","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T06:54:28Z","timestamp":1747724068000},"page":"735","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Competitive Loss of Cerebellar Granule and Purkinje Cells Driven by X-Linked Mosaicism in a Female Mouse Model of CASK-Related Disorders"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4195-2804","authenticated-orcid":false,"given":"Takuma","family":"Mori","sequence":"first","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Department of Neuroinnovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8095-7133","authenticated-orcid":false,"given":"Mengyun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Kunugitani","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taichi","family":"Akatsuka","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukina","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Kouyama-Suzuki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6639-3810","authenticated-orcid":false,"given":"Shin","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Biotechnology Research Institute, National Institute of Advanced Industrial Science and Technology, Tokyo 135-0064, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3263-4986","authenticated-orcid":false,"given":"Yoshinori","family":"Shirai","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-4637","authenticated-orcid":false,"given":"Katsuhiko","family":"Tabuchi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan"},{"name":"Department of Neuroinnovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1523\/JNEUROSCI.16-08-02488.1996","article-title":"CASK: A novel dlg\/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins","volume":"16","author":"Hata","year":"1996","journal-title":"J. Neurosci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3599","DOI":"10.1007\/s00018-016-2183-4","article-title":"CASK stabilizes neurexin and links it to liprin-\u03b1 in a neuronal activity-dependent manner","volume":"73","author":"LaConte","year":"2016","journal-title":"Cell Mol. Life Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"24453","DOI":"10.1074\/jbc.274.35.24453","article-title":"Association of neuronal calcium channels with modular adaptor proteins","volume":"274","author":"Maximov","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0092-8674(00)81736-5","article-title":"A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain","volume":"94","author":"Butz","year":"1998","journal-title":"Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"47869","DOI":"10.1074\/jbc.M105287200","article-title":"CASK and protein 4.1 support F-actin nucleation on neurexins","volume":"276","author":"Biederer","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"4264","DOI":"10.1523\/JNEUROSCI.22-11-04264.2002","article-title":"CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein","volume":"22","author":"Tabuchi","year":"2002","journal-title":"J. Neurosci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"12067","DOI":"10.1523\/JNEUROSCI.0816-13.2013","article-title":"CASK regulates SAP97 conformation and its interactions with AMPA and NMDA receptors","volume":"33","author":"Lin","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Mori, T., Zhou, M., and Tabuchi, K. (2023). Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. Genes, 14.","DOI":"10.3390\/genes14081656"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1006\/geno.1998.5404","article-title":"The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy","volume":"51","author":"Dimitratos","year":"1998","journal-title":"Genomics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1002\/ajmg.a.32433","article-title":"The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation","volume":"146A","author":"Hayashi","year":"2008","journal-title":"Am. J. Med. Genet.- Part A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng.194","article-title":"Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum","volume":"40","author":"Najm","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1111\/j.1399-0004.2009.01186_1.x","article-title":"An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development","volume":"75","author":"Bailey","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/ejhg.2009.220","article-title":"CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes","volume":"18","author":"Hackett","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1111\/j.1528-1167.2012.03548.x","article-title":"CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia","volume":"53","author":"Saitsu","year":"2012","journal-title":"Epilepsia"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2008.12.018","article-title":"A missense mutation in CASK causes FG syndrome in an Italian family","volume":"84","author":"Piluso","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmedgenet-2011-100218","article-title":"Phenotypic spectrum associated with CASK loss-of-function mutations","volume":"48","author":"Moog","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"177","DOI":"10.5582\/irdr.2017.01031","article-title":"A novel CASK mutation identified in siblings exhibiting developmental disorders with\/without microcephaly","volume":"6","author":"Seto","year":"2017","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1750-1172-7-18","article-title":"Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: Confirmation of a recognizable phenotype and first description of a male mosaic patient","volume":"7","author":"Burglen","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1073\/pnas.0611003104","article-title":"Deletion of CASK in mice is lethal and impairs synaptic function","volume":"104","author":"Atasoy","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s40478-016-0295-6","article-title":"X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner","volume":"4","author":"Srivastava","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1038\/s41380-018-0338-4","article-title":"Deficiency of calcium\/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B","volume":"24","author":"Mori","year":"2019","journal-title":"Mol. Psychiatry"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Guo, Q., Kouyama-Suzuki, E., Shirai, Y., Cao, X., Yanagawa, T., Mori, T., and Tabuchi, K. (2023). Structural Analysis Implicates CASK-Liprin-\u03b12 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome. Cells, 12.","DOI":"10.3390\/cells12081177"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1038\/s41588-024-01840-5","article-title":"Competition shapes the landscape of X-chromosome-linked genetic diversity","volume":"56","author":"Buenaventura","year":"2024","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"dev167486","DOI":"10.1242\/dev.167486","article-title":"Cell competition: The winners and losers of fitness selection","volume":"146","author":"Bowling","year":"2019","journal-title":"Development"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/(SICI)1526-968X(200002)26:2<110::AID-GENE2>3.0.CO;2-8","article-title":"Expression of Cre recombinase in mouse oocytes: A means to study maternal effect genes","volume":"26","author":"Binns","year":"2000","journal-title":"Genesis"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2958","DOI":"10.1242\/dev.136739","article-title":"Live imaging of X chromosome reactivation dynamics in early mouse development can discriminate na\u00efve from primed pluripotent stem cells","volume":"143","author":"Kobayashi","year":"2016","journal-title":"Development"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/nmeth.2994","article-title":"idTracker: Tracking individuals in a group by automatic identification of unmarked animals","volume":"11","author":"Hinz","year":"2014","journal-title":"Nat. Methods"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Badawi, M., Mori, T., Kurihara, T., Yoshizawa, T., Nohara, K., Kouyama-Suzuki, E., Yanagawa, T., Shirai, Y., and Tabuchi, K. (2021). Risperidone Mitigates Enhanced Excitatory Neuronal Function and Repetitive Behavior Caused by an ASD-Associated Mutation of SIK1. Front. Mol. Neurosci., 14.","DOI":"10.3389\/fnmol.2021.706494"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Zhou, M., Qiu, W., Ohashi, N., Sun, L., Wronski, M.L., Kouyama-Suzuki, E., Shirai, Y., Yanagawa, T., Mori, T., and Tabuchi, K. (2024). Deep-Learning-Based Analysis Reveals a Social Behavior Deficit in Mice Exposed Prenatally to Nicotine. Cells, 13.","DOI":"10.3390\/cells13030275"},{"key":"ref_30","first-page":"1787","article-title":"A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia","volume":"39","author":"Guyenet","year":"2010","journal-title":"J. Vis. Exp."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Sun, L., Ohashi, N., Mori, T., Mizuno, Y., Zang, W., Guo, Q., Kouyama-Suzuki, E., Shirai, Y., and Tabuchi, K. (2024). Adult neurogenesis in the ventral hippocampus decreased among animal models of neurodevelopmental disorders. Front. Neural Circuits, 18.","DOI":"10.3389\/fncir.2024.1504191"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Pang, B., Mori, T., Badawi, M., Zhou, M., Guo, Q., Suzuki-Kouyama, E., Yanagawa, T., Shirai, Y., and Tabuchi, K. (2022). An Epilepsy-Associated Mutation of Salt-Inducible Kinase 1 Increases the Susceptibility to Epileptic Seizures and Interferes with Adrenocorticotropic Hormone Therapy for Infantile Spasms in Mice. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23147927"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1002\/ajmg.a.35640","article-title":"Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations","volume":"158A","author":"Takanashi","year":"2012","journal-title":"Am. J. Med. Genet.-Part A"},{"key":"ref_34","first-page":"51303","article-title":"Assessing functional performance in the mdx mouse model","volume":"85","year":"2014","journal-title":"J. Vis. Exp."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/nrn1646","article-title":"Anatomical and physiological foundations of cerebellar information processing","volume":"6","author":"Apps","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1038\/s41582-023-00874-3","article-title":"Linking the cerebellum to Parkinson disease: An update","volume":"19","author":"Li","year":"2023","journal-title":"Nat. Rev. Neurol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ejpn.2021.02.006","article-title":"CASK related disorder: Epilepsy and developmental outcome","volume":"31","author":"Giacomini","year":"2021","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature03479","article-title":"X-inactivation profile reveals extensive variability in X-linked gene expression in females","volume":"434","author":"Carrel","year":"2005","journal-title":"Nature"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/nature24265","article-title":"Landscape of X chromosome inactivation across human tissues","volume":"550","author":"Tukiainen","year":"2017","journal-title":"Nature"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Cerrato, V. (2020). Cerebellar Astrocytes: Much More Than Passive Bystanders in Ataxia Pathophysiology. J. Clin. Med., 9.","DOI":"10.3390\/jcm9030757"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.pneurobio.2013.08.001","article-title":"Origin, lineage and function of cerebellar glia","volume":"109","author":"Buffo","year":"2013","journal-title":"Prog. Neurobiol."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Shuvaev, A.N., Belozor, O.S., Mozhei, O., Yakovleva, D.A., Potapenko, I.V., Smolnikova, M.V., Salmin, V.V., Salmina, A.B., Hirai, H., and Teschemacher, A.G. (2021). Chronic optogenetic stimulation of Bergman glia leads to dysfunction of EAAT1 and Purkinje cell death, mimicking the events caused by expression of pathogenic ataxin-1. Neurobiol. Dis., 154.","DOI":"10.1016\/j.nbd.2021.105340"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/BF00538787","article-title":"High voltage electron microscopy of rapid golgi preparations. Neurons and their processes in the cerebellar cortex of monkey and rat","volume":"137","author":"Palay","year":"1972","journal-title":"Z. Anat Entwicklungsgesch"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Rahimi-Balaei, M., Bergen, H., Kong, J., and Marzban, H. (2018). Neuronal Migration During Development of the Cerebellum. Front. Cell Neurosci., 12.","DOI":"10.3389\/fncel.2018.00484"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.3174\/ajnr.A2173","article-title":"Neuroradiologic features of CASK mutations","volume":"31","author":"Takanashi","year":"2010","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Hayashi, S., Uehara, D.T., Tanimoto, K., Mizuno, S., Chinen, Y., Fukumura, S., Takanashi, J.I., Osaka, H., Okamoto, N., and Inazawa, J. (2017). Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0181791"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"3584","DOI":"10.1167\/iovs.19-27197","article-title":"Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia","volume":"60","author":"Kerr","year":"2019","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_48","first-page":"e52434","article-title":"Use of the Open Field Maze to measure locomotor and anxiety-like behavior in mice","volume":"96","author":"Seibenhener","year":"2015","journal-title":"J. Vis. Exp."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e58613","DOI":"10.7554\/eLife.58613","article-title":"Modular output circuits of the fastigial nucleus for diverse motor and nonmotor functions of the cerebellar vermis","volume":"9","author":"Fujita","year":"2020","journal-title":"eLife"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0166-2236(95)80020-3","article-title":"The functional anatomy of disorders of the basal ganglia","volume":"18","author":"Albin","year":"1995","journal-title":"Trends Neurosci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/nn.3743","article-title":"Direct and indirect pathways of basal ganglia: A critical reappraisal","volume":"17","author":"Calabresi","year":"2014","journal-title":"Nat. Neurosci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S1387-2656(05)11007-2","article-title":"Cell and tissue autofluorescence research and diagnostic applications","volume":"11","author":"Monici","year":"2005","journal-title":"Biotechnol. Annu. Rev."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nature05453","article-title":"Genome-wide atlas of gene expression in the adult mouse brain","volume":"445","author":"Lein","year":"2007","journal-title":"Nature"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/14\/10\/735\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:34:36Z","timestamp":1760031276000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/14\/10\/735"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,17]]},"references-count":53,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025,5]]}},"alternative-id":["cells14100735"],"URL":"https:\/\/doi.org\/10.3390\/cells14100735","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,17]]}}}