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Transcription factors (TFs) are transported from the cytoplasm to the nucleus and disappear from the nucleus after they regulate gene expression. Here, we discover an unconventional nuclear export of the TF, orthodenticle homeobox 2 (OTX2), in nuclear budding vesicles, which transport OTX2 to the lysosome. We further find that torsin1a (Tor1a) is responsible for scission of the inner nuclear vesicle, which captures OTX2 using the LINC complex. Consistent with this, in cells expressing an ATPase-inactive Tor1aΔE mutant and the LINC (linker of nucleoskeleton and cytoskeleton) breaker KASH2, OTX2 accumulated and formed aggregates in the nucleus. Consequently, in the mice expressing Tor1aΔE and KASH2, OTX2 could not be secreted from the choroid plexus for transfer to the visual cortex, leading to failed development of parvalbumin neurons and reduced visual acuity. Together, our results suggest that unconventional nuclear egress and secretion of OTX2 are necessary not only to induce functional changes in recipient cells but also to prevent aggregation in donor cells.
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http://dx.doi.org/10.1038/s41467-023-36697-5 | DOI Listing |
Oncogene
September 2025
Université catholique de Louvain, Louvain Institute of Biomolecular Science and Technology, Animal Molecular and Cellular Biology, Laboratory of Neural Differentiation, Louvain-la-Neuve, Belgium.
Medulloblastomas are the most common solid paediatric cancers. Their prognosis largely depends on tumour subtype and expression level of transcription factor such as Orthodenticle homeobox 2 (OTX2). OTX2 is an homeoprotein that maintains stemness and initiates oncogenic pathways.
View Article and Find Full Text PDFWorld J Clin Pediatr
June 2025
Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India.
Anophthalmia is defined as a complete absence of one eye or both the eyes, while microphthalmia represents the presence of a small eye within the orbit. The estimated birth prevalence for anophthalmia is approximately 3 per 100000 live births, and for microphthalmia, it is around 14 per 100000 live births. However, combined evidence suggests that the prevalence of these malformations could be as high as 30 per 100000 individuals.
View Article and Find Full Text PDFWorld J Psychiatry
April 2025
Department of Basic Medicine, Chengdu Medical College, Chengdu 610500, Sichuan Province, China.
Background: Depression is a disease with a significant global social burden. Single nucleotide polymorphisms (SNPs) are correlated with the development of depression. This study investigates the relationship between polymorphisms in the and gene promoter regions and susceptibility to depression in the Chinese population.
View Article and Find Full Text PDFSci China Life Sci
July 2025
Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410205, China.
Early embryonic development is controlled by maternal factors originating from mature oocytes. The zygotic genome is activated from a transcriptionally quiescent state through a process called embryonic genome activation (EGA), which involves the depletion and clearance of maternal factors. However, the mechanism by which maternal factors regulate EGA and embryonic development, particularly in humans, remains elusive.
View Article and Find Full Text PDFTransl Psychiatry
April 2025
Division of Experimental and Translational Neuroscience, Krembil Research Institute, University Health Network, Toronto, ON, Canada.
Genome wide association studies (GWAS) have implicated the OTX2 (Orthodenticle homeobox 2) gene locus in major depressive disorders (MDD) as well as genetically correlated traits. Of the genes identified by MDD GWAS, the gene for the transcription factor OTX2 stands out as it is responsible for both opening and closing of critical and sensitive brain periods. These are developmental periods where the brain is more sensitive to environmental input and are critical for normal brain development.
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