Recessive Mutations in ACPT , Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
Open accessAbstract
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c.331C>T (p.Arg111Cys), family 3 by the homozygous ACPT mutation c.226C>T (p.Arg76Cys), and family 6 by the compound heterozygous ACPT mutations c.382G>C (p.Ala128Pro) and 397G>A (p.Glu133Lys). Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization. Immunohistochemical analysis confirmed localization of ACPT in secretory-stage ameloblasts. The study results provide evidence for the crucial function of ACPT during amelogenesis.
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The study detected the convergent loss of ACP4, a gene associated with the enamel disorder amelogenesis imperfecta.
“As a novel result, we detected the convergent loss of ACP4 (Fig. 5b and Supplementary Fig. 33), a gene that is associated with the enamel disorder amelogenesis imperfecta46.”
From A genomics approach reveals insights into the importance of gene losses for mammalian adaptations (2018) · cites this paper as [46]
The supplied passage and searches for ACP4 and ACPT returned only a list of URLs, with no substantive passage or section/page information. Our accessible copy therefore does not establish whether ACP4 is associated with amelogenesis imperfecta. The convergent-loss finding is presented as the citing authors’ own result, not as a finding attributed to this source. (LLM, conf=0.70)
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A genomics approach reveals insights into the importance of gene losses for mammalian adaptations
Sharma, V., Hecker, N., Roscito, J. G., Foerster, L., Langer, B. E., & Hiller, M. (2018) · Nature Communications · doi:10.1038/s41467-018-03667-1 · Cited by 237 · see citing works
Founder Variants of the Turkish.
Kablan, A. (2026) · Clinical genetics · doi:10.1111/cge.70080 · Cited by 1 · see citing works
- Authors
- Seymen, F., Kim, Y. J., Lee, Y. J., Kang, J., Kim, T.-H., Choi, H., Koruyucu, M., Kasimoglu, Y., Tuna, E. B., Gencay, K., Shin, T. J., Hyun, H.-K., Kim, Y.-J., Lee, S.-H., Lee, Z. H., Zhang, H., Hu, J. C.-C., Simmer, J. P., Cho, E.-S., & Kim, J.-W.
- Affiliations
- Istanbul University-Cerrahpaşa (TR)
- Seoul National University (KR)
- Jeonbuk National University (KR)
- University of Michigan (US)
- Corresponding author
- Cho, Eui-Sic
- Kim, Jung-Wook
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 99
- Issue
- 5
- Pages
- 1199-1205
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5097978
- OpenAlex
- W2540034324
- Cited by
- 54
- References
- 0
- Citations by year
- 2026: 7 · 2025: 2 · 2024: 1 · 2023: 8 · 2022: 3 · 2021: 10 · 2020: 3 · 2019: 7 · 2018: 5 · 2017: 8
- FWCI
- 2.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- Funders
- National Research Foundation of Korea (2014R1A2A1A11049931)
- National Institute of Dental and Craniofacial Research (DE015846)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Rheumatology › Bone and Dental Protein Studies
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Alkaline Phosphatase Research Studies
- Keywords
- amelogenesis imperfecta, enamel hypoplasia, autosomal recessive inheritance, biallelic variants, compound heterozygosity, ameloblasts, enzyme activity, homodimerization, dental enamel
- MeSH terms
- Acid Phosphatase, Amelogenesis Imperfecta, Child, Dental Enamel, Dental Enamel Proteins, Exons, Female, Genes, Recessive, Homozygote, Humans, Male, Mutation, Pedigree, Protein Conformation, Turkey, Sequence Alignment
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