ArticleDevelopmental biology2009
Loss of Tbx2 delays optic vesicle invagination leading to small optic cups.
Article in Developmental biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Multifaceted role of T-box transcription factor 4: From embryonic development to disease pathogenesis.Genes & diseases · 2026Review
- Tbx genes influence early gene expression and photoreceptor patterning in the chick retina.bioRxiv : the preprint server for biology · 2025Article
- Lactate-dependent transcriptional regulation controls mammalian eye morphogenesis.Nature communications · 2023Article
- Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression.Molecular biology and evolution · 2020Article
- Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Human molecular genetics · 2018Article
- Recent Developments in UsingInternational journal of molecular sciences · 2018Review
- Directing Differentiation of Pluripotent Stem Cells Toward Retinal Pigment Epithelium Lineage.Stem cells translational medicine · 2017Article
- The tbx2a/b transcription factors direct pronephros segmentation and corpuscle of Stannius formation in zebrafish.Developmental biology · 2017Article
- Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development.BMC genomics · 2016Article
- Optomotor-blind negatively regulates Drosophila eye development by blocking Jak/STAT signaling.PloS one · 2015Article
- Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression.Frontiers in oncology · 2015Article
- Article
- The cavefish genome reveals candidate genes for eye loss.Nature communications · 2014Article
- Connecting the retina to the brain.ASN neuro · 2014Review
- Article
- Patterning the cone mosaic array in zebrafish retina requires specification of ultraviolet-sensitive cones.PloS one · 2014Article
- Quantitative genetic analysis of retinal degeneration in the blind cavefish Astyanax mexicanus.PloS one · 2013Article
- TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner.Stem cells (Dayton, Ohio) · 2012Article
- Article
- SMOC1 is essential for ocular and limb development in humans and mice.American journal of human genetics · 2011Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Tbx2 is a T-box transcription factor gene that is dynamically expressed in the presumptive retina during optic vesicle invagination. Several findings implicate Tbx2 in cell cycle regulation, including its overexpression in tumours and regulation of proliferation during heart development. We investigated the role of Tbx2 in optic cup formation by analysing mice with a targeted homozygous mutation in Tbx2. Loss of Tbx2 caused a reduced presumptive retinal volume due to increased apoptosis, and a delay in ventral optic vesicle invagination leading to the formation of small and abnormally shaped optic cups. Tbx2 is essential for maintenance, but not induction of expression of the dorsal retinal determinant, Tbx5, and acts downstream of Bmp4, a dorsally expressed gene implicated in human microphthalmia. The small retina showed a hypocellular ventral region, loss of Fgf15, normally expressed in proliferating central retinal cells, and increased numbers of mitotic cells in the dorsal region, indicating that Tbx2 is required for normal growth and development across the D-V axis. Dorsal expression of potential regulators of retinal growth, Cyp1b1 and Cx43, and the topographic guidance molecule ephrinB2, was increased, and intraretinal axons were disorganised resulting in a failure of optic nerve formation. Our data provide evidence that Tbx2 is required for proper optic cup formation and plays a critical early role in regulating regional retinal growth and the acquisition of shape during optic vesicle invagination.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.