ArticleGenome research2002
Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.
Article in Genome research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 38 citations in OpenAlex.
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- Review
- Retrotransposons as Drivers of Mammalian Brain Evolution.Life (Basel, Switzerland) · 2021Review
- Evolutionary Origins of Pax6 Control of Crystallin Genes.Genome biology and evolution · 2017Article
- piRNA involvement in genome stability and human cancer.Journal of hematology & oncology · 2015Review
- Mobile DNA elements in the generation of diversity and complexity in the brain.Nature reviews. Neuroscience · 2014Review
- A gene-specific non-enhancer sequence is critical for expression from the promoter of the small heat shock protein gene αB-crystallin.Human genomics · 2014Article
- Characterization and regulation of the hb9/mnx1 beta-cell progenitor specific enhancer in zebrafish.Developmental biology · 2012Article
- CpG deamination creates transcription factor-binding sites with high efficiency.Genome biology and evolution · 2011Article
- Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.Cellular and molecular life sciences : CMLS · 2010Article
- The transcript repeat element: the human Alu sequence as a component of gene networks influencing cancer.Functional & integrative genomics · 2010Review
- Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development.American journal of human genetics · 2008Article
- Transposable elements and the evolution of regulatory networks.Nature reviews. Genetics · 2008Review
- Alu elements contain many binding sites for transcription factors and may play a role in regulation of developmental processes.BMC genomics · 2006Article
- A systematic model to predict transcriptional regulatory mechanisms based on overrepresentation of transcription factor binding profiles.Genome research · 2006Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Pax6 is a critical transcription factor in the development of the eye, pancreas, and central nervous system. It is composed of two DNA-binding domains, the paired domain (PD), which has two helix-turn-helix (HTH) motifs, and the homeodomain (HD), made up from another HTH motif. Each HTH motif can bind to DNA separately or in combination with the others. We identified three novel binding sites that are specific for the PD and HD domains of human PAX6 from single-copy human genomic DNA libraries using cyclic amplification of protein binding sequences (CAPBS) and electrophoretic mobility shift assays (EMSAs). One of the binding sites was found within sequences of repetitive Alu elements. However, most of the Alu sequences were unable to bind to PAX6 because of a small number of mismatches (mostly in CpG dinucleotide hot spots) in the consensus Alu sequences. PAX6 binding Alu elements are found primarily in old and intermediate-aged Alu subfamilies. These data along with our previously identified B1-type Pax6 binding site showed that evolutionarily conserved Pax6 has target sites that are disparate in primates and rodents. This difference indicates that human and mouse Pax6-regulated gene networks may have evolved through these lineage-specific repeat elements.
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