ArticleDevelopmental biology2012
Lens development depends on a pair of highly conserved Sox21 regulatory elements.
Article in Developmental biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Functional associations of evolutionarily recent human genes exhibit sensitivity to the 3D genome landscape and disease.bioRxiv : the preprint server for biology · 2024Article
- Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.American journal of human genetics · 2024Article
- Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.Investigative ophthalmology & visual science · 2022Article
- Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Review
- Ultraconserved Elements Occupy Specific Arenas of Three-Dimensional Mammalian Genome Organization.Cell reports · 2018Article
- Article
- Evolution of lineage-specific functions in ancient cis-regulatory modules.Open biology · 2015Article
- Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development.Development, growth & differentiation · 2015Article
- Submicroscopic deletions at 13q32.1 cause congenital microcoria.American journal of human genetics · 2015Article
- A Simple Predictive Enhancer Syntax for Hindbrain Patterning Is Conserved in Vertebrate Genomes.PloS one · 2015Article
- Divergent evolutionary rates in vertebrate and mammalian specific conserved non-coding elements (CNEs) in echolocating mammals.BMC evolutionary biology · 2014Article
- Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.PLoS genetics · 2014Article
- Dissection of a Ciona regulatory element reveals complexity of cross-species enhancer activity.Developmental biology · 2014Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Highly conserved non-coding elements (CNEs) linked to genes involved in embryonic development have been hypothesised to correspond to cis-regulatory modules due to their ability to induce tissue-specific expression patterns. However, attempts to prove their requirement for normal development or for the correct expression of the genes they are associated with have yielded conflicting results. Here, we show that CNEs at the vertebrate Sox21 locus are crucial for Sox21 expression in the embryonic lens and that loss of Sox21 function interferes with normal lens development. Using different expression assays in zebrafish we find that two CNEs linked to Sox21 in all vertebrates contain lens enhancers and that their removal from a reporter BAC abolishes lens expression. Furthermore inhibition of Sox21 function after the injection of a sox21b morpholino into zebrafish leads to defects in lens development. These findings identify a direct link between sequence conservation and genomic function of regulatory sequences. In addition to this we provide evidence that putative Sox binding sites in one of the CNEs are essential for induction of lens expression as well as enhancer function in the CNS. Our results show that CNEs identified in pufferfish-mammal whole-genome comparisons are crucial developmental enhancers and hence essential components of gene regulatory networks underlying vertebrate embryogenesis.
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