ArticleAmerican journal of human genetics2016
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 50 citations in OpenAlex.
- Article
- Amelogenin Phosphorylation Affects Protein-Protein Interactions In Vivo.Calcified tissue international · 2026Article
- ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.Calcified tissue international · 2026Article
- Amelogenin Phosphorylation Affects Key Regulatory Genes in the Enamel Organ.Calcified tissue international · 2026Review
- Pseudogenes document protracted parallel regression of oral anatomy in myrmecophagous mammals.Molecular biology and evolution · 2026Article
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.Human mutation · 2025Article
- Article
- A novelJournal of dental sciences · 2024Article
- MEMO1 Is Required for Ameloblast Maturation and Functional Enamel Formation.Journal of dental research · 2023Article
- Review
- Article
- Enamel defects in Acp4Scientific reports · 2022Article
- Integration of Single-Cell RNA- and CAGE-seq Reveals Tooth-Enriched Genes.Journal of dental research · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
- Novel Mutations inJournal of personalized medicine · 2021Article
- Translational Attenuation by an Intron Retention in the 5' UTR ofBiomedicines · 2021Article
- A Novel De NovoGenes · 2021Article
- Article
- Article
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Authors and funding
20 authors at 4 institutions in 3 countries.
Funding
Abstract
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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