TY - JOUR
T1 - Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21
AU - MacDougall, Mary
AU - Dupont, Barbara R.
AU - Simmons, Darrin
AU - Reus, Bonnie
AU - Krebsbach, Paul
AU - Kärrman, Carina
AU - Holmgren, Gösta
AU - Leach, Robin J.
AU - Forsman, Kristina
N1 - Funding Information:
Ting Ting Gu, Jian Feng, and Elenora Westermark are acknowledged for their excellent assistance and ongoing efforts with this project. This work was supported by NIH NIDR Research Grants R29DE09875 (M.M.) and R03DE11848 (R.J.L.) and by grants from the Swedish Medical Research Council (Projects 09745 and 10866) (K.F. and G.H.), the County Council of VaÈskerbotten, Sweden, and the Wellcome Trust.
PY - 1997/4/1
Y1 - 1997/4/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/17544404939
UR - https://www.scopus.com/pages/publications/17544404939#tab=citedBy
U2 - 10.1006/geno.1997.4643
DO - 10.1006/geno.1997.4643
M3 - Article
C2 - 9126491
AN - SCOPUS:17544404939
SN - 0888-7543
VL - 41
SP - 115
EP - 118
JO - Genomics
JF - Genomics
IS - 1
ER -