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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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Nishi, Y., Ji, H., Wong, W., McMahon, A., & Vokes, S. (2009) · Biochimica et Biophysica Acta · doi:10.1016/j.bbagrm.2009.01.002 · Cited by 19
Burzynski, G. M., Reed, X., Taher, L., Stine, Z. E., Matsui, T., Ovcharenko, I., & McCallion, A. S. (2012) · Genome Research · doi:10.1101/gr.139717.112 · Cited by 17
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Mannion, B. J., Tran, S., Plajzer-Frick, I., Novak, C. S., Afzal, V., Akiyama, J. A., Sospedra-Arrufat, I., Barton, S., Beckman, E., Garvin, T. H., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-62497-0 · Cited by 14
Bains, W., & Schulze‐Makuch, D. (2015) · Journal of Molecular Evolution · doi:10.1007/s00239-015-9688-6 · Cited by 16
Mouri, K., Sagai, T., Maeno, A., Amano, T., Toyoda, A., & Shiroishi, T. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1713339115 · Cited by 16
Lang, M., Hadzhiev, Y., Siegel, N., Amemiya, C. T., Parada, C., Strähle, U., Becker, M.-B., Müller, F., & Meyer, A. (2010) · EvoDevo · doi:10.1186/2041-9139-1-11 · Cited by 16
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
Debeer, P., Devriendt, K., SMET, L. D., DERAVEL, T., González‐Meneses, A., Grzeschik, K., & Fryns, J. (2007) · Journal of Children s Orthopaedics · doi:10.1007/s11832-007-0022-8 · Cited by 16
VanderMeer, J. E., Afzal, M., Alyas, S., Haque, S., Ahituv, N., & Malik, S. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35473 · Cited by 16
Peluso, S., Douglas, A., Hill, A., Angelis, C. D., Moore, B. L., Grimes, G. R., Petrovich, G., Essafi, A., & Hill, R. E. (2017) · eLife · doi:10.7554/elife.28590 · Cited by 15
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Akerman, İ., Maestro, M. A., Franco, E. D., Grau, V., Flanagan, S. E., García-Hurtado, J., Mittler, G., Ravassard, P., Piemonti, L., Ellard, S., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108981 · Cited by 15
Cass, A. N., Elias, A., Fudala, M. L., Knick, B. D., & Davis, M. C. (2021) · Diversity · doi:10.3390/d13080384 · Cited by 16
Wang, J., Wang, A., Tian, K., Hua, X., Zhang, B., Zheng, Y., Kong, X., Li, W., Xu, L., Wang, J., et al. (2022) · Cell Discovery · doi:10.1038/s41421-022-00421-2 · Cited by 15
Narumi, S., Nagasaki, K., Kiriya, M., Uehara, E., Akiba, K., Tanase‐Nakao, K., Shimura, K., Abe, K., Sugisawa, C., Ishii, T., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01735-5 · Cited by 15
Lu, Y., Zhou, Y., & Tian, W. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt785 · Cited by 15
TRACER: a resource to study the regulatory architecture of the mouse genome
Chen, C.-K., Symmons, O., Uslu, V. V., Tsujimura, T., Ruf, S., Smedley, D. P., & Spitz, F. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-215 · Cited by 16
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Ohnesorg, T., Croft, B., Tan, J. T., & Sinclair, A. (2016) · Sexual Development · doi:10.1159/000445398 · Cited by 13
Bickelmann, C., Frota-Lima, G. N., Triepel, S. K., Kawaguchi, A., Schneider, I., & Fröbisch, N. (2018) · Journal of Experimental Zoology Part B: Molecular and Developmental Evolution · doi:10.1002/jez.b.22798 · Cited by 14
Dynamics of transcriptional enhancers and chromosome topology in gene regulation
Yokoshi, M., & Fukaya, T. (2019) · Development Growth & Differentiation · doi:10.1111/dgd.12597 · Cited by 14
Feldmann, A., Dimitrova, E., Kenney, A., Lastuvkova, A., & Klose, R. J. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa064 · Cited by 15
Cassinari, K., Rovelet‐Lecrux, A., Tury, S., Quenez, O., Richard, A., Charbonnier, C., Olaso, R., Boland, A., Deleuze, J., Besancenot, J.-F., et al. (2020) · Movement Disorders · doi:10.1002/mds.28090 · Cited by 15
Localized and Temporal Gene Regulation in Heart Development
Barnett, P., van den Boogaard, M., & Christoffels, V. M. (2012) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/b978-0-12-387786-4.00004-x · Cited by 15
From genomes to societies: a holistic view of determinants of human health
Shi, Y., & Zhong, S. (2014) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2014.03.001 · Cited by 17
Abo‐Dalo, B., Kim, H., Roes, M., Stefanova, M., Higgins, A. W., Shen, Y., Mundlos, S., Quade, B. J., Gusella, J. F., & Kutsche, K. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32034 · Cited by 15
Shi, B., Guo, X., Wu, T., Sheng, S., Wang, J., Skogerbø, G., Zhu, X., & Chen, R. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-92 · Cited by 15
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Jalili, V., Matteucci, M., Morelli, M. J., & Masseroli, M. (2016) · Briefings in Bioinformatics · doi:10.1093/bib/bbw029 · Cited by 15
Birkhoff, J. C., Brouwer, R. W. W., Kolovos, P., Korporaal, A. L., Bermejo-Santos, A., Boltsis, I., Nowosad, K., van den Hout, M. C. G. N., Grosveld, F. G., van IJcken, W. F. J., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa141 · Cited by 15
Gene transcription in the zebrafish embryo: regulators and networks
Ferg, M., Armant, O., Yang, L., Dickmeis, T., Rastegar, S., & Strähle, U. (2013) · Briefings in Functional Genomics · doi:10.1093/bfgp/elt044 · Cited by 17
Boccia, A. S. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki011 · Cited by 15
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Chin, I. M., Gardell, Z. A., & Corces, M. R. (2024) · Trends in Cell Biology · doi:10.1016/j.tcb.2024.03.005 · Cited by 18
Ruffo, P., Traynor, B. J., & Conforti, F. L. (2025) · Genes & Diseases · doi:10.1016/j.gendis.2025.101652 · Cited by 15
Boyling, A., Pérez‐Siles, G., & Kennerson, M. L. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.842860 · Cited by 15
Lozovska, A., Korovesi, A. G., Dias, A., Lopes, A. D. O., Fowler, D. A., Martins, G. G., Nóvoa, A., & Mallo, M. (2024) · Nature Communications · doi:10.1038/s41467-024-46870-z · Cited by 14
Perspective on recent developments and challenges in regulatory and systems genomics
Zeitlinger, J., Roy, S., Ay, F., Mathelier, A., Medina-Rivera, A., Mahony, S., Sinha, S. K., & Ernst, J. (2024) · Bioinformatics Advances · doi:10.1093/bioadv/vbaf106 · Cited by 18
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Cowie, P., Hay, E. A., & MacKenzie, A. (2015) · Expert Reviews in Molecular Medicine · doi:10.1017/erm.2014.23 · Cited by 14
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Yousaf, A., Raza, M. S., & Abbasi, A. A. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv146 · Cited by 14
Alinejad‐Rokny, H., Modegh, R. G., Rabiee, H. R., Sarbandi, E. R., Rezaie, N., Tam, K. T., & Forrest, A. R. R. (2022) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1010241 · Cited by 20
Upstream regulation for initiation of restricted Shh expression in the chick limb bud
Matsubara, H., Saito, D., Abe, G., Yokoyama, H., Suzuki, T., & Tamura, K. (2017) · Developmental Dynamics · doi:10.1002/dvdy.24493 · Cited by 12
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Postlethwait, J. H., Ruotti, V., Carvan, M. J., & Tonellato, P. J. (2004) · Methods in cell biology · doi:10.1016/s0091-679x(04)77014-4 · Cited by 14
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Dai, L., Guo, H., Meng, H., Zhang, K., Hu, H., Yao, H., & Bai, Y. (2013) · European Journal of Pediatrics · doi:10.1007/s00431-013-2071-y · Cited by 14
Wechsler, S. B., Lehoczky, J. A., Hall, J. G., & Innis, J. W. (2004) · Clinical Dysmorphology · doi:10.1097/00019605-200404000-00002 · Cited by 14
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Ye, X., Guerin, L. N., Chen, Z., Rajendren, S., Dunker, W., Zhao, Y., Zhang, R., Hodges, E. C., & Karijolich, J. J. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.113888 · Cited by 11
Kaplan, S. J., Wong, W., Yan, J., Pulecio, J., Cho, H., Li, Q., Zhao, J., Leslie-Iyer, J., Kazakov, J., Murphy, D., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114640 · Cited by 16
A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice
Shi, F., Ding, S., Zhao, S., Han, M., Zhuang, Y., Xu, T., & Wu, X. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu092 · Cited by 13
Al-Qattan, M. M. (2018) · Journal of Hand Surgery (European Volume) · doi:10.1177/1753193418758862 · Cited by 13
Li, L., Qi, Z., Chai, L., Chen, Z., Wang, T., Zhang, M., You, M., Peng, H., Yao, Y., Hu, Z., et al. (2020) · Theoretical and Applied Genetics · doi:10.1007/s00122-020-03543-x · Cited by 13
Robust and efficient gene regulation through localized nuclear microenvironments
Tsai, A., Galupa, R., & Crocker, J. (2020) · Development · doi:10.1242/dev.161430 · Cited by 12
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Chatterjee, S., & Lufkin, T. (2011) · Molecular BioSystems · doi:10.1039/c1mb05116d · Cited by 13
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Sumiyama, K., & Tanave, A. (2020) · Development Growth & Differentiation · doi:10.1111/dgd.12671 · Cited by 15
Schell-Apacik, C. C., Ertl-Wagner, B. B., Panzel, A., Klausener, K., Rausch, G., Muenke, M., von Voß, H., & Hehr, U. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32940 · Cited by 13
Innis, J. W., & Hedera, P. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30296 · Cited by 13
Misener, V. L., & Barr, C. L. (2008) · Nucleic acids and molecular biology · doi:10.1007/978-3-540-85383-1_4 · Cited by 13
Tarchini, B., Longo-Guess, C. M., Tian, C., Tadenev, A. L. D., Devanney, N. A., & Johnson, K. R. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.09.011 · Cited by 13
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Oh, J. W., & Beer, M. (2024) · Nature Communications · doi:10.1038/s41467-024-50708-z · Cited by 15
Long-range gene regulation and novel therapeutic applications
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Morales, A. V., Espeso‐Gil, S., Ocaña, I., Nieto‐Lopez, F., Calleja, E., Bovolenta, P., Lewandoski, M. B., & del Corral, R. D. (2015) · Developmental Neurobiology · doi:10.1002/dneu.22368 · Cited by 13
Yoshihara, M., Saito, D., Sato, T., Ohara, O., Kuramoto, T., & Suyama, M. (2016) · BMC Genomics · doi:10.1186/s12864-016-2975-9 · Cited by 12
Atak, Z. K., Imrichová, H., Svetlichnyy, D., Hulselmans, G. J., Christiaens, V., Reumers, J., Ceulemans, H., & Aerts, S. (2017) · Genome Medicine · doi:10.1186/s13073-017-0464-7 · Cited by 13
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Sholtis, S. J., & Weiss, K. M. (2005) · Elsevier eBooks · doi:10.1016/b978-012088777-4/50023-5 · Cited by 12
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene
Coutton, C., Poreau, B., Devillard, F., Durand, C., Odent, S., Rozel, C., Vieville, G., Amblard, F., Jouk, P., & Satre, V. (2013) · Molecular Syndromology · doi:10.1159/000355391 · Cited by 12
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Tschopp, P., Fraudeau, N., Bena, F. S., & Duboule, D. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1102985108 · Cited by 12
Kropatsch, R., Melis, C., Strønen, A. V., Jensen, H., & Epplen, J. T. (2015) · Journal of Heredity · doi:10.1093/jhered/esv031 · Cited by 12
Polychronopoulos, D., Athanasopoulou, L., & Almirantis, Y. (2016) · Gene · doi:10.1016/j.gene.2016.02.022 · Cited by 11
Zhang, Z., Yi, D., Xie, R., Hamilton, J. L., Kang, Q., & Chen, D. (2017) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13440 · Cited by 12
Mapping and predicting gene–enhancer interactions
Gaffney, D. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0540-6 · Cited by 12
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Salsench, E. M., Karkala, F., Lanko, K., & Barakat, T. S. (2021) · Essays in Biochemistry · doi:10.1042/ebc20200121 · Cited by 11
Miura, H., Tomaru, Y., Nakanishi, M., Kondo, S., Hayashizaki, Y., & Suzuki, M. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn978 · Cited by 11
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Gallinari, P., Filocamo, G., JONES, P. G., Pazzaglia, S., & Steinkühler, C. (2009) · Expert Opinion on Drug Discovery · doi:10.1517/17460440902852686 · Cited by 12
Henning, A. N., Haag, J. D., Smits, B. M. G., & Gould, M. N. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006261 · Cited by 12
Elgar, G. (2004) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2004.10.001 · Cited by 12
Identification and Computational Analysis of Gene Regulatory ElementsPreprint
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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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