Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis
Open accessAbstract
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families. TSPEAR encodes the thrombospondin-type laminin G domain and EAR repeats (TSPEAR) protein, whose function is poorly understood. TSPEAR knock-down resulted in altered expression of genes known to be regulated by NOTCH and to be involved in murine hair and tooth development. Pathway analysis confirmed that down-regulation of TSPEAR in keratinocytes is likely to affect Notch signaling. Accordingly, using a luciferase-based reporter assay, we showed that TSPEAR knock-down is associated with decreased Notch signaling. In addition, NOTCH1 protein expression was reduced in patient scalp skin. Moreover, TSPEAR silencing in mouse hair follicle organ cultures was found to induce apoptosis in follicular epithelial cells, resulting in decreased hair bulb diameter. Collectively, these observations indicate that TSPEAR plays a critical, previously unrecognized role in human tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway.
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Variants of TSPEAR, HOXC13, or CST6 have been shown to underlie new forms of ED.
“To be mentioned here, for example, variants of TSPEAR [47,48], HOXC13 [49] or CST6 [50] have been shown to underlie new forms of ED.”
From Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update (2022) · cites this paper as [47]
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1 retracted
RETRACTED: Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis
Shen, W., Wang, Y., Liu, Y., Liu, H., Zhao, H., Zhang, G., Snead, M. L., Han, D. K., & Feng, H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0154884 · Cited by 23 · see citing works
RetractedThe Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521 · see citing works
Müller-Röver, S., Foitzik, K., Paus, R., Handjiski, B., van der Veen, C., Eichmüller, S., McKay, I. A., & Stenn, K. S. (2001) · Journal of Investigative Dermatology · doi:10.1046/j.0022-202x.2001.01377.x · Cited by 1,375 · see citing works
Self-citationConnexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
Paznekas, W. A., Boyadjiev, S. A., Shapiro, R. E., Daniëls, O., Wollnik, B., Keegan, C. E., Innis, J. W., Dinulos, M. B., Christian, C., Hannibal, M., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/346090 · Cited by 620 · see citing works
Zhang, Y., Tomann, P., Andl, T., Gallant, N. M., Huelsken, J., Jerchow, B., Birchmeier, W., Paus, R., Piccolo, S., Mikkola, M. L., et al. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.05.011 · Cited by 363 · see citing works
Self-citationDesmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida‐Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2739 · Cited by 336 · see citing works
Self-citationReassessing theDlxcode: the genetic regulation of branchial arch skeletal pattern and development
Depew, M. J., Simpson, C. A., Morasso, M. I., & Rubenstein, J. L. R. (2005) · Journal of Anatomy · doi:10.1111/j.1469-7580.2005.00487.x · Cited by 293 · see citing works
Self-citationRinne, T., Brunner, H. G., & van Bokhoven, H. (2007) · Cell Cycle · doi:10.4161/cc.6.3.3796 · Cited by 290 · see citing works
Networking of WNT, FGF, Notch, BMP, and Hedgehog Signaling Pathways during Carcinogenesis
Katoh, M. (2007) · Stem Cell Reviews and Reports · doi:10.1007/s12015-007-0006-6 · Cited by 286 · see citing works
Adaimy, L., Chouery, E., Mégarbané, H., Mroueh, S., Delague, V., Nicolas, E., Belguith, H., de Mazancourt, P., & Mégarbané, A. (2007) · The American Journal of Human Genetics · doi:10.1086/520064 · Cited by 248 · see citing works
Identification of a mutation in DLX3 associated with tricho-dento- osseous (TDO) syndrome
Price, J. A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.563 · Cited by 240 · see citing works
Molecular aspects of hypohidrotic ectodermal dysplasia
Mikkola, M. L. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32855 · Cited by 211 · see citing works
Hairy tale of signaling in hair follicle development and cycling
Lee, J., & Tumbar, T. (2012) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2012.08.003 · Cited by 188 · see citing works
Notch signaling: Its role in epidermal homeostasis and in the pathogenesis of skin diseases
Okuyama, R., Tagami, H., & Aiba, S. (2007) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2007.05.017 · Cited by 167 · see citing works
The ectodysplasin pathway: from diseases to adaptations
Sadier, A., Viriot, L., Pantalacci, S., & Laudet, V. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.08.006 · Cited by 132 · see citing works
Genome-Wide Association Study for Wool Production Traits in a Chinese Merino Sheep Population
Wang, Z., Zhang, H., Yang, H., Wang, S., Rong, E., Pei, W., Li, H., & Wang, N. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107101 · Cited by 127 · see citing works
A common protein interaction domain links two recently identified epilepsy genes
Scheel, H. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.15.1757 · Cited by 124 · see citing works
The Gene Network Underlying Hypodontia
Yin, W., & Bian, Z. (2015) · Journal of Dental Research · doi:10.1177/0022034515583999 · Cited by 122 · see citing works
Gao, Y., Wang, X., Yan, H., Zeng, J., Ma, S., Niu, Y., Zhou, G., Jiang, Y., & Chen, Y. (2016) · PLoS ONE · doi:10.1371/journal.pone.0151118 · Cited by 115 · see citing works
p53/p63/p73 in the Epidermis in Health and DiseasePreprint
Botchkarev, V. A., & Flores, E. R. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a015248 · Cited by 111 · see citing works
p63 in Skin Development and Ectodermal Dysplasias
Koster, M. I. (2010) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.119 · Cited by 100 · see citing works
Xiao, X., He, Y., Li, C., Zhang, X., Xu, H., & Wang, B. (2015) · British Journal of Dermatology · doi:10.1111/bjd.14223 · Cited by 100 · see citing works
Confirmation of the origin of NISCH syndrome
Feldmeyer, L., Huber, M., Fellmann, F., Beckmann, J. S., Frenk, E., & Hohl, D. (2006) · Human Mutation · doi:10.1002/humu.20333 · Cited by 96 · see citing works
Tan, K., Duquette, M. A., Liu, J., Zhang, R., Joachimiak, A., Wang, J., & Lawler, J. (2006) · Structure · doi:10.1016/j.str.2005.09.017 · Cited by 87 · see citing works
Samuelov, L., Sprecher, E., Tsuruta, D., Bı́ró, T., Kloepper, J. E., & Paus, R. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2012.171 · Cited by 86 · see citing works
Self-citationConnexins in epidermal homeostasis and skin disease
Scott, C. A., Tattersall, D., O’Toole, E. A., & Kelsell, D. P. (2011) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2011.09.004 · Cited by 85 · see citing works
Peters, E. M. J., Hansen, M. G., Overall, R. W., Nakamura, M., Pertile, P., Klapp, B. F., Arck, P., & Paus, R. (2005) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2005.23648.x · Cited by 79 · see citing works
Self-citationLin, H.-Y., Kao, C., Lin, K. M.-C., Kaartinen, V., & Yang, L.-T. (2011) · PLoS ONE · doi:10.1371/journal.pone.0015842 · Cited by 74 · see citing works
Nousbeck, J., Spiegel, R., Ishida‐Yamamoto, A., Indelman, M., Shani‐Adir, A., Adir, N., Lipkin, E., Bercovici, S., Geiger, D., Steensel, M. A. M. V., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.03.014 · Cited by 74 · see citing works
Self-citationEctodermal Dysplasia-Skin Fragility Syndrome
McGrath, J. A., & Mellerio, J. E. (2009) · Dermatologic Clinics · doi:10.1016/j.det.2009.10.014 · Cited by 72 · see citing works
Delmaghani, S., Aghaie, A., Michalski, N., Bonnet, C., Weil, D., & Petit, C. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds212 · Cited by 72 · see citing works
Etiology and pathogenesis of ectodermal dysplasias
Itin, P. H. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36550 · Cited by 69 · see citing works
Notch Signaling and the Developing Hair Follicle
Aubin‐Houzelstein, G. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0899-4_11 · Cited by 63 · see citing works
Felszeghy, S., Suomalainen, M., & Thesleff, I. (2010) · Differentiation · doi:10.1016/j.diff.2010.06.004 · Cited by 52 · see citing works
Molecular and cellular characterization of SEL‐OB/SVEP1 in osteogenic cells in vivo and in vitro
Shur, I., Socher, R., Hameiri, M., Fried, A. I., & Benayahu, D. (2005) · Journal of Cellular Physiology · doi:10.1002/jcp.20497 · Cited by 47 · see citing works
Notch Signaling and the Developing Skin Epidermis
Massi, D., & Panelos, J. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0899-4_10 · Cited by 42 · see citing works
Prevalence of congenital dental anomalies in the primary dentition in Taiwan.
Chen, Y.-H., Cheng, N.-C., Wang, Y., & Yang, C. (2010) · PubMed · Cited by 31 · see citing works
Rakhshan, V., & Rakhshan, H. (2015) · International Orthodontics · doi:10.1016/j.ortho.2015.06.008 · Cited by 28 · see citing works
Ethical Aspects on Rare Diseases
Barrera, L. A., & Galindo, G. C. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-9485-8_27 · Cited by 24 · see citing works
The prevalence and distribution of hypodontia in a sample of Qatari patients
Hashim, H. A., & Al-Said, S. (2016) · Journal of Orthodontic Science · doi:10.4103/2278-0203.176651 · Cited by 21 · see citing works
Arumugam, A., Weng, Z., Chaudhary, S. C., Afaq, F., Elmets, C. A., & Athar, M. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.07.129 · Cited by 8 · see citing works
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Tricarico, P. M., Boniotto, M., Genovese, G., Zouboulis, C. C., Marzano, A. V., & Crovella, S. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.00892 · Cited by 68 · see citing works
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Peschel, N., Wright, J. T., Koster, M. I., Clarke, A. J., Tadini, G., Fete, M., Hadj-Rabia, S., Sybert, V. P., Norderyd, J., Maier-Wohlfart, S., et al. (2022) · Genes · doi:10.3390/genes13122327 · Cited by 60 · see citing works
“In addition to the EDA/NF-κ B pathway, the p63 transcription factor pathway, and the Wnt/ β -catenin pathway, we included a group of genes that play a role in the development of cell structure or keratinization, and, as a fifth group, EDs related to other pathways, such as Notch signaling (e.g., TSPEAR variants).”
BackgroundThe Changing Landscape in the Genetic Etiology of Human Tooth Agenesis
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Shieh, J. T. C., Penon‐Portmann, M., Wong, K. H. Y., Levy‐Sakin, M., Verghese, M., Slavotinek, A. M., Gallagher, R. C., Mendelsohn, B. A., Tenney, J., Beleford, D. T., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00241-5 · Cited by 57 · see citing works
Faridi, R., Tona, R., Brofferio, A., Hoa, M., Olszewski, R. T., Schrauwen, I., Assir, M. Z. K., Bandesha, A. A., Khan, A. A., Rehman, A. U., et al. (2018) · Human Mutation · doi:10.1002/humu.23689 · Cited by 33 · see citing works
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Chen, S., Xie, H., Zhao, S., Wang, S., Wei, X., & Liu, S. (2022) · Organogenesis · doi:10.1080/15476278.2021.2022373 · Cited by 28 · see citing works
Du, R., Dinçkan, N., Song, X., Coban‐Akdemir, Z., Jhangiani, S. N., Güven, Y., Aktören, O., Kayserili, H., Petty, L. E., Muzny, D. M., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1907-y · Cited by 26 · see citing works
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Brennan, K., Zheng, H., Fahrner, J. A., Shin, J. H., Gentles, A. J., Schaefer, B., Sunwoo, J. B., Bernstein, J. A., & Gevaert, O. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac026 · Cited by 25 · see citing works
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Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62347 · Cited by 20 · see citing works
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Friedrich, J., Liu, S., Fang, L., Prendergast, J. G. D., & Wiener, P. (2024) · BMC Genomics · doi:10.1186/s12864-024-10852-8 · Cited by 11 · see citing works
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Akalın, A., Koç, N., Özşin‐Özler, C., Karaosmanoğlu, B., Demir, G. Ü., Taşkıran, E. Z., Ütine, G. E., Tekçiçek, M. U., & Şimşek‐Kiper, P. Ö. (2025) · Molecular Syndromology · doi:10.1159/000544806
Dysplasie ectodermique hypohidrotique liée au chromosome X
Boulanger, J., Bursztejn, A. ‐., & Hadj-Rabia, S. (2025) · Annales de Dermatologie et de Vénéréologie - FMC · doi:10.1016/j.fander.2025.03.007
Du, H., Huang, X. X., Ren, R., Sun, Y., & Wang, Y. (2025) · Gene · doi:10.1016/j.gene.2025.149687
Vergani, D., Tiberi, L., Giliberti, A., Dirupo, E., Zaroili, L., Brancati, F., Brena, M., Caraffi, S. G., Luca, C. D., Garavelli, L., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64304
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.24604029
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26643481
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26643472
Tian, D., Pei, Q., Jiang, H., Guo, J., Ma, X., Han, B., Li, X., & Zhao, K. (2024) · Figshare · doi:10.6084/m9.figshare.26731165
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26643478
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26643484
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2024) · Figshare · doi:10.6084/m9.figshare.26643475
Zhou, F., Wang, S., Qin, H., Zeng, H., Ye, J., Yang, J., 蔡更元, Wu, Z., & Zhang, Z. (2023) · Figshare · doi:10.6084/m9.figshare.24603593
Ahmadkhani, A., Taherifard, E., Zoghi, S., Khamirani, H. J., Ahmadkhani, M., & Dastgheib, S. A. (2026) · Journal of Medical Case Reports · doi:10.1186/s13256-025-05761-7
Xu, Y., Yang, D., Xie, Y., Liu, Q., Lv, S., Du, M., & Wang, L. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1669753
- Authors
- Peled, A., Sarig, O., Samuelov, L., Bertolini, M., Ziv, L., Weissglas-Volkov, D., Eskin-Schwartz, M., Adase, C. A., Malchin, N., Bochner, R., Fainberg, G., Goldberg, I., Sugawara, K., Baniel, A., Tsuruta, D., Luxenburg, C., Adir, N., Duverger, O., Morasso, M., Shalev, S., Gallo, R. L., Shomron, N., Paus, R., & Sprecher, E.
- Affiliations
- Tel Aviv University (IL)
- Tel Aviv Sourasky Medical Center (IL)
- University of Münster (DE)
- Sheba Medical Center (IL)
- University of California San Diego (US)
- Osaka City University (JP)
- Technion – Israel Institute of Technology (IL)
- National Institutes of Health (US)
- Corresponding author
- Sprecher, Eli
- ORCID
- Venue
- PLOS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2016-10-13
- Volume
- 12
- Issue
- 10
- Pages
- e1006369
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC5065119
- OpenAlex
- W2529974075
- Cited by
- 55
- References
- 44
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 8 · 2023: 7 · 2022: 12 · 2021: 4 · 2020: 2 · 2019: 4 · 2018: 5 · 2017: 3
- FWCI
- 2.08
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- public-domain
- creativecommons.org/publicdomain/zero/1.0/ (vor)
- Locations
- PLoS Genetics (publishedVersion, public-domain)
- PubMed Central (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion, public-domain)
- eScholarship (California Digital Library) (submittedVersion, public-domain)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- Donation of Israel and Ruth Ram
- Center for Nanoscience and Nanotechnology at Tel-Aviv University
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- ectodermal dysplasia, Notch signaling, tooth morphogenesis, hair follicle morphogenesis, tooth agenesis, facial dysmorphism, Notch1, keratinocytes, hair follicle organ culture, genetic mutations
- MeSH terms
- Animals, Cell Differentiation, DNA Mutational Analysis, Ectodermal Dysplasia, Humans, Morphogenesis, Pedigree, Proteins, Tooth, Signal Transduction, Frameshift Mutation, Gene Expression Regulation, Developmental, Hair Follicle, Mice, Receptor, Notch1
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