Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21

Mary MacDougall, Barbara R. Dupont, Darrin Simmons, Bonnie Reus, Paul Krebsbach, Carina Kärrman, Gösta Holmgren, Robin J. Leach, Kristina Forsman

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

Amelogenesis imperfecta (AI) is a broad group of hereditary enamel defects that is characterized by a high degree of clinical diversity. Recently, the local hypoplastic form of autosomal dominant AI (AIH2) has been mapped to human chromosome 4q in a 17.6-cM region. This locus has been further refined to a 4-Mb interval between D4S2421 and Albumin. Recently, a cDNA clone for an enamel matrix protein, ameloblastin (AMBN), has been isolated. In this report, we have isolated a PAC human genomic clone containing the human AMBN gene. The AMBN was mapped by two color fluorescence in situ hybridization using two P1 genomic clones for sequence-tagged site (STS) markers, D4S400 and D4S409, which flank the critical AIH2 region. Our results place AMBN at 4q21 between D4S409 (4q13) and D4S400 (4q21). Furthermore, the AMBN PAC genomic clone was shown to contain three STS markers, D4S2604, D4S2670, and D4S2609, which are contained within the critical region defined by six Swedish families with AIH2. AMBN is therefore a strong candidate gene for AIH2.

Original languageEnglish (US)
Pages (from-to)115-118
Number of pages4
JournalGenomics
Volume41
Issue number1
DOIs
StatePublished - Apr 1 1997

ASJC Scopus subject areas

  • Genetics

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    MacDougall, M., Dupont, B. R., Simmons, D., Reus, B., Krebsbach, P., Kärrman, C., Holmgren, G., Leach, R. J., & Forsman, K. (1997). Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. Genomics, 41(1), 115-118. https://doi.org/10.1006/geno.1997.4643