The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Long-range regulation at the SOX9 locus in development and disease: Figure 1
Abstract
The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex regulatory region controlling SOX9 transcription, involving ∼1 Mb of upstream sequence. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD. The translocation breakpoints upstream of SOX9 can now be clustered into three groups, with a trend towards less severe skeletal phenotypes as the distance of each cluster from SOX9 increases. In this review we discuss how the identification of novel lesions surrounding SOX9 support the existence of tissue specific enhancers acting over a large distance to regulate expression of the gene during craniofacial development, and we highlight the potential for discovery of additional regulatory elements within the extended SOX9 control region.
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Cites
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Looping and Interaction between Hypersensitive Sites in the Active β-globin Locus
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In vivo enhancer analysis of human conserved non-coding sequences
Pennacchio, L. A., Ahituv, N., Moses, A. M., Prabhakar, S., Nobrega, M. A., Shoukry, M., Minovitsky, S., Dubchak, I., Holt, A., Lewis, K. D., et al. (2006) · Nature · doi:10.1038/nature05295 · Cited by 1,165
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Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development
Woolfe, A., Goodson, M., Goode, D. K., Snell, P., McEwen, G. K., Vavouri, T., Smith, S. F., North, P., Callaway, H., Kelly, K., et al. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0030007 · Cited by 970
Long-range chromatin regulatory interactions in vivo
Carter, D., Chakalova, L., Osborne, C. S., Dai, Y.-F., & Fraser, P. (2002) · Nature Genetics · doi:10.1038/ng1051 · Cited by 663
The Sox9 transcription factor determines glial fate choice in the developing spinal cord
Stolt, C. C., Lommes, P., Sock, E., Chaboissier, M.-C., Schedl, A., & Wegner, M. (2003) · Genes & Development · doi:10.1101/gad.259003 · Cited by 636
The transcription factor Sox9 is required for cranial neural crest development in Xenopus
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Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa
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Regulatory divergence modifies limb length between mammals
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Cited by
Formation of new chromatin domains determines pathogenicity of genomic duplications
Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., Kraft, K., Kempfer, R., Jerković, I., Chan, W.-L., et al. (2016) · Nature · doi:10.1038/nature19800 · Cited by 673
Liu, C.-F., & Lefebvre, V. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv688 · Cited by 287
Metadata
- Authors
- Gordon, C. T., Tan, T. Y., Benko, S., FitzPatrick, D., Lyonnet, S., & Farlie, P. G.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-05-26
- Volume
- 46
- Issue
- 10
- Pages
- 649-656
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2017134168
- Cited by
- 167
- References
- 10
- FWCI
- 4.20
- Type
- journal article
- Language
- en
- Open access
- closed
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- Gordon, C. T., Tan, T. Y., Benko, S., FitzPatrick, D., Lyonnet, S., & Farlie, P. G. (2009). Long-range regulation at the SOX9 locus in development and disease: Figure 1. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2009.068361
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
