ArticleMolecular and cellular biology2008
Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme.
Article in Molecular and cellular biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Article
- GATA3 is essential for separating patterning domains during facial morphogenesis.Development (Cambridge, England) · 2021Article
- A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Human molecular genetics · 2019Article
- Genetic Dissection of a Supergene ImplicatesGenetics · 2018Article
- Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development.Scientific reports · 2017Article
- The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.Developmental biology · 2016Review
- Molecular mechanisms of midfacial developmental defects.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Review
- Conservation in first introns is positively associated with the number of exons within genes and the presence of regulatory epigenetic signals.BMC genomics · 2014Article
- cis-regulatory mutations are a genetic cause of human limb malformations.Developmental dynamics : an official publication of the American Association of Anatomists · 2011Review
- Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2010Article
- Intronic elements in the Na+/I- symporter gene (NIS) interact with retinoic acid receptors and mediate initiation of transcription.Nucleic acids research · 2010Article
- Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Human genetics · 2009Article
- Control elements in the neighboring ATPase gene influence spatiotemporal expression of the human agouti-related protein.Journal of molecular biology · 2009Article
- Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity.Genes and immunity · 2008Article
- TFAP2A mutations result in branchio-oculo-facial syndrome.American journal of human genetics · 2008Article
- Functional analysis of limb transcriptional enhancers in the mouse.Evolution & developmentArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Tcfap2a, the gene encoding the mouse AP-2alpha transcription factor, is required for normal development of multiple structures during embryogenesis, including the face and limbs. Using comparative sequence analysis and transgenic-mouse experiments we have identified an intronic enhancer within this gene that directs expression to the face and limb mesenchyme. There are two conserved sequence blocks within this intron, and the larger of these directs tissue-specific activity and is found in all vertebrate Tcfap2a genes analyzed. To assess the role of the enhancer in regulating endogenous mouse Tcfap2a expression, we have deleted this cis-regulatory sequence from the genome. Loss of this element severely impairs Tcfap2a expression in the limb bud mesenchyme but generates only a modest reduction in the facial mesenchyme. The reduction in Tcfap2a transcription is accompanied by altered patterning of the forelimb, resulting in postaxial polydactyly. These results indicate that the major role for this enhancer resides within the limb bud, and it serves to maintain a level of Tcfap2a expression that limits the size of the hand plate and the associated number of digit primordia. The potential role of this cis-acting sequence in modeling the size and shape of the face and limbs during evolution is discussed.
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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.