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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
Open accessAbstract
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements. Regulatory elements are notoriously difficult to locate and may reside at considerable distances from the transcription units on which they operate and, moreover, may be incorporated into the structure of neighbouring genes. The importance of regulatory mutations as the basis of human abnormalities remains obscure. Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element. Shh, normally expressed in the ZPA posteriorly in the limb bud, is expressed in an additional ectopic site at the anterior margin in mouse models of PPD. Our investigations into the basis of the ectopic Shh expression identified the enhancer element that drives normal Shh expression in the ZPA. The regulator, designated ZRS, lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh. The ZRS drives the early spatio-temporal expression pattern in the limb of tetrapods. Despite the morphological differences between limbs and fins, an equivalent regulatory element is found in fish. The ZRS contains point mutations that segregate with polydactyly in four unrelated families with PPD and in the Hx mouse mutant. Thus point mutations residing in long-range regulatory elements are capable of causing congenital abnormalities, and possess the capacity to modify gene activity such that a novel gamut of abnormalities is detected.
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“It soon became clear that enhancers also played vital roles in humans, with non-coding enhancer deletions starting to be linked to severe disease phenotypes such as beta thalassaemia and polydactyly [25–28].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [27]
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“The classic example of this is the Shh ZRS enhancer, which is located within the intron of the Lmbr1 gene approximately 1 megabase distant from Shh [27].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [27]
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“For example, in the mouse genome, the Shh gene and its ZRS (zone of polarizing activity regulatory sequence) enhancer are located about 1 Mb apart [127].”
From Enhancer Function in the 3D Genome (2023) · cites this paper as [127]
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“At least a few enhancers reside at great distances from their target gene (e.g. the ZRS enhancer located 1 Mb from the Shh gene118, and a MYC enhancer located 1.7 Mb downstream119), although most are much more proximal to their target promoters72.”
From Towards a comprehensive catalogue of validated and target-linked human enhancers (2020) · cites this paper as [118]
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Cites
Thompson, J. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.24.4876 · Cited by 38,685
A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341
Sonic hedgehog mediates the polarizing activity of the ZPA
Riddle, R. D., Johnson, R. L., Laufer, E., & Tabin, C. J. (1993) · Cell · doi:10.1016/0092-8674(93)90626-2 · Cited by 2,285
Echelard, Y., Epstein, D. J., St-Jacques, B., Shen, L., Mohler, J., McMahon, J. A., & McMahon, A. P. (1993) · Cell · doi:10.1016/0092-8674(93)90627-3 · Cited by 2,154
Krauss, S. J. K., Concordet, J., & Ingham, P. W. (1993) · Cell · doi:10.1016/0092-8674(93)90628-4 · Cited by 1,072
VISTA : visualizing global DNA sequence alignments of arbitrary length
Mayor, C., Brudno, M., Schwartz, J. R., Poliakov, A., Rubin, E. M., Frazer, K. A., Pachter, L. S., & Dubchak, I. L. (2000) · Bioinformatics · doi:10.1093/bioinformatics/16.11.1046 · Cited by 1,017
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Lettice, L., Horikoshi, T., Heaney, S., van Baren, M. V., van der Linde, H. C., Breedveld, G., Joosse, M., Akarsu, N., Oostra, B., Endo, N., et al. (2002) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.112212199 · Cited by 501
Self-citationThe regulation of myogenin gene expression during the embryonic development of the mouse.Preprint
Yee, S., & Rigby, P. W. J. (1993) · Genes & Development · doi:10.1101/gad.7.7a.1277 · Cited by 423
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9
Li, H., Arber, S., Jessell, T. M., & Edlund, H. (1999) · Nature Genetics · doi:10.1038/12669 · Cited by 377
Position effect in human genetic disease
Kleinjan, D. A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.10.1611 · Cited by 370
Research works printed but not linked: 1
- Sanders, J.W. Jr and Gasseling, M.T. (1968) Ectodermal-mesenchymal interactions in the origin of limb symmetry. In Fleischmajar, R. and Billingham, R.F. (eds), Ectodermal-Mesenchymal Interactions. Williams and Wilkins, Baltimore, MD, pp. 78-97.
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Items 401–500 of 999
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Thomas, S., Encha‐Razavi, F., Devisme, L., Etchevers, H., Bessières, B., Goudefroye, G., Elkhartoufi, N., Pateau, E., Ichkou, A., Bonnière, M., et al. (2010) · Human Mutation · doi:10.1002/humu.21329 · Cited by 32
Conte, I., & Bovolenta, P. (2007) · Genome biology · doi:10.1186/gb-2007-8-7-r137 · Cited by 33
Loots, G. G. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00010-7 · Cited by 34
Semerci, C., Demirkan, F., Özdemir, M., Biskin, E., Akin, B., Bagci, H., & Akarsu, N. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01192.x · Cited by 33
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Saxena, A., Towers, M., & Cooper, K. L. (2016) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2015.0482 · Cited by 34
Barešić, A., Nash, A. J., Dahoun, T., Howes, O. D., & Lenhard, B. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0518-x · Cited by 33
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Advances in the molecular genetics of non-syndromic polydactyly
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MacKenzie, A., Miller, K. A., & Collinson, J. M. (2004) · BioEssays · doi:10.1002/bies.20117 · Cited by 33
Hojo, H. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032979 · Cited by 33
Ancient cis-regulatory constraints and the evolution of genome architecture
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Sheeba, C., Andrade, R., & Palmeirim, I. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.01.007 · Cited by 32
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Rye, M. B., Sandve, G. K., Daub, C. O., Kawaji, H., Carninci, P., Forrest, A. R. R., & Drabløs, F. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-120 · Cited by 31
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Laverré, A., Tannier, É., & Necşulea, A. (2021) · Genome Research · doi:10.1101/gr.275901.121 · Cited by 30
Mitchelmore, J., Grinberg, N. F., Wallace, C., & Spivakov, M. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa123 · Cited by 25
p53 rapidly restructures 3D chromatin organization to trigger a transcriptional response
Serra, F., Nieto-Aliseda, A., Fanlo, L., Rovirosa, L., Cabrera-Pasadas, M., Lazarenkov, A., Urmeneta, B., Alcalde-Merino, A., Nola, E., Okorokov, A. L., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-46666-1 · Cited by 30
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Kim, S., Kim, Y., Kong, J., Kim, E., Choi, J. H., Yuk, H. D., Lee, H., Kim, H.-R., Lee, K. H., Kang, M., et al. (2019) · eLife · doi:10.7554/elife.43024 · Cited by 29
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Davidson, S., Starkey, A. J., & MacKenzie, A. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-614 · Cited by 30
Review of Literature: Genes Related to Postaxial Polydactyly
Verma, P. K., & El-Harouni, A. A. (2015) · Frontiers in Pediatrics · doi:10.3389/fped.2015.00008 · Cited by 31
Gene regulation during development in the light of topologically associating domains
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Sun, H., Skogerbø, G., & Chen, R. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl232 · Cited by 30
Loers, J. U., & Vermeirssen, V. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae382 · Cited by 39
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Sun, Y., Liu, R., Zhao, G., Zheng, M., Sun, Y., Yu, X., Li, P., & Wen, J. (2014) · G3 Genes Genomes Genetics · doi:10.1534/g3.114.011338 · Cited by 29
Friedli, M., Barde, I., Arcangeli, M., Verp, S., Quazzola, A., Zákány, J., Lin-Marq, N., Robyr, D., Attanasio, C., Spitz, F., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015741 · Cited by 30
Meddens, C., van der List, A. C. J., Nieuwenhuis, E. E. S., & Mokrý, M. (2019) · Gut · doi:10.1136/gutjnl-2018-317516 · Cited by 31
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Xia, J., & Wei, G. (2019) · Cells · doi:10.3390/cells8101281 · Cited by 26
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Duboule, D. (2022) · Developmental Biology · doi:10.1016/j.ydbio.2022.02.007 · Cited by 36
Oliver, P. L., Bitoun, E., & Davies, K. E. (2007) · Mammalian Genome · doi:10.1007/s00335-007-9014-8 · Cited by 31
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Taher, L., & Ovcharenko, I. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp043 · Cited by 30
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Wu, L., Liang, D., Niikawa, N., Ma, F., Sun, M., Pan, Q., Long, Z., Zhou, Z., Yoshiura, K., Wang, H., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32740 · Cited by 29
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Lange, A., & Müller, G. B. (2017) · The Quarterly Review of Biology · doi:10.1086/690841 · Cited by 29
Zouari, Y. B., Molitor, A., Sikorska, N., Pancaldi, V., & Sexton, T. (2018) · Genome Biology · doi:10.1186/s13059-019-1706-3 · Cited by 27
A syndactyly type IV locus maps to 7q36
Sato, D., Liang, D., Wu, L., Pan, Q., Xia, K., Dai, H., Wang, H., Nishimura, G., Yoshiura, K.-I., Xia, J., et al. (2007) · Journal of Human Genetics · doi:10.1007/s10038-007-0150-5 · Cited by 29
Kessler, S., Minoux, M., Joshi, O., Zouari, Y. B., Ducret, S., Ross, F., Vilain, N., Salvi, A., Wolff, J., Kohler, H., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-38953-0 · Cited by 28
Nitsch, R., Dato, V. D., di Gennaro, A., de Cristofaro, T., Abbondante, S., Felice, M. D., Zannini, M., & Lauro, R. D. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-306 · Cited by 29
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Takahashi, M., & Saitou, N. (2012) · Genome Biology and Evolution · doi:10.1093/gbe/evs035 · Cited by 28
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Dickmeis, T. (2005) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/3.4.332 · Cited by 28
Teng, L., Firpi, H. A., & Tan, K. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr476 · Cited by 28
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Hojo, H., & Ohba, S. (2020) · Bone · doi:10.1016/j.bone.2020.115458 · Cited by 27
Sheng, T., Ho, S. W. T., Ooi, W. F., Xu, C., Xing, M., Padmanabhan, N., Huang, K. K., Ma, L., Ray, M., Guo, Y. A., et al. (2021) · Genome Medicine · doi:10.1186/s13073-021-00970-3 · Cited by 27
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Thomas, H., & Buecker, C. (2023) · BioEssays · doi:10.1002/bies.202300044 · Cited by 28
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Wang, H., Huang, B., & Wang, J. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab841 · Cited by 26
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Benabdallah, N. S., Gautier, P. E., Hekimoglu-Balkan, B., Lettice, L. A., Bhatia, S., & Bickmore, W. A. (2016) · Open Biology · doi:10.1098/rsob.160197 · Cited by 26
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Metadata
- Authors
- Lettice, L. A.
- Affiliations
- Western General Hospital (GB)
- Corresponding author
- Lettice, L. A.
- ORCID
- Lettice, L. A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-07-15
- Volume
- 12
- Issue
- 14
- Pages
- 1725-1735
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2145144631
- Cited by
- 1,164
- References
- 35
- Citations by year
- 2026: 26 · 2025: 40 · 2024: 50 · 2023: 58 · 2022: 66 · 2021: 78 · 2020: 52 · 2019: 49 · 2018: 50 · 2017: 50 · 2016: 64 · 2015: 56 · 2014: 78 · 2013: 64 · 2012: 60
- FWCI
- 26.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Lirias (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Keywords
- Sonic hedgehog, preaxial polydactyly, limb bud, fin development, zirconium, LMBR1, point mutations, congenital limb anomalies, chromosome 7q36
- MeSH terms
- Zona Pellucida Glycoproteins, Animals, Base Sequence, Chromosomes, Human, Pair 7, Egg Proteins, Enhancer Elements, Genetic, Extremities, Female, Humans, Male, Membrane Glycoproteins, Membrane Proteins, Molecular Sequence Data, Pedigree, Receptors, Cell Surface, Trans-Activators, Polydactyly, Takifugu, Mice, Hedgehog Proteins
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