Lau E C, Mohandas T K, Shapiro L J, Slavkin H C, Snead M L
Laboratory for Developmental Biology, University of Southern California, School of Dentistry, Los Angeles 90089.
Genomics. 1989 Feb;4(2):162-8. doi: 10.1016/0888-7543(89)90295-4.
Enamel is the outermost covering of teeth and is the hardest tissue in the vertebrate body. The enamel matrix is composed of enamelin and amelogenin classes of protein. We have determined the chromosomal locations for the human and mouse amelogenin (AMEL) loci using Southern blot analyses of DNA from human, mouse, or somatic cell hybrids by hybridization to a characterized mouse amelogenin cDNA. We have determined that human AMEL sequences are located on the distal short arm of the X chromosome in the p22.1----p22.3 region and near the centromere on the Y chromosome, possibly at the proximal long arm (Yq11) region. These chromosomal assignments are consistent with the hypothesis that perturbation of the amelogenin gene is involved in X-linked types of amelogenesis imperfecta, as well as with the Y-chromosomal locations for genes that participate in regulating tooth size and shape. Unlike the locus in humans, the mouse AMEL locus appears to be assigned solely to the X chromosome. Finally, together with the data on other X and Y chromosome sequences, these data for AMEL mapping support the notion of a pericentric inversion occurring in the human Y chromosome during primate evolution.
牙釉质是牙齿的最外层覆盖物，也是脊椎动物体内最坚硬的组织。牙釉质基质由釉原蛋白和釉蛋白类蛋白质组成。我们通过用一个已鉴定的小鼠釉原蛋白cDNA与来自人、小鼠或体细胞杂种的DNA进行Southern印迹分析，确定了人和小鼠釉原蛋白（AMEL）基因座的染色体定位。我们已经确定，人类AMEL序列位于X染色体短臂远端的p22.1-p22.3区域，以及Y染色体着丝粒附近，可能在近端长臂（Yq11）区域。这些染色体定位与以下假设一致：釉原蛋白基因的扰动与X连锁型牙釉质发育不全有关，也与参与调节牙齿大小和形状的基因在Y染色体上的定位一致。与人类的基因座不同，小鼠AMEL基因座似乎仅位于X染色体上。最后，结合其他X和Y染色体序列的数据，这些AMEL定位数据支持了在灵长类动物进化过程中人类Y染色体发生了着丝粒周围倒位的观点。
