Anti-PAX9 (C-terminal) monoclonal antibody, clone 8D3 (Q0D34)

We report in this paper two unusual cases of M-1 agenesis recently discovered in Japanese macaques (Macaca fuscata). Molar agenesis is the congenital absence of molars. In general, molar agenesis occurs from the posterior molars. In most cases, missing teeth are third molars. Second molars may occasionally be absent in addition to the third molars. However, the congenital absence of first molars is hardly observed in humans, and to our knowledge, no case has been reported in other primates. In addition to the rareness of first molar agenesis, the present cases in M fuscata are also quite unusual, because the posterior molars (M-2 and M-3) were completely preserved in contrast to the ordinary pattern of molar reduction. Interestingly, the two cases of the present study were observed in a single maternal lineage (a mother and her son), suggesting that M-1 agenesis in these Japanese macaques is genetically inherited.

The breakpoints of deletions and translocations in the proximal chromosome 14q region were defined in nine patients, four of whom have not been reported previously. The aberrant chromosomes were isolated by how cytometry and used to map the chromosome 14 deletion or translocation breakpoints. The parental origins of deletions were ascertained as paternal in five cases and maternal in one. With the draft genomic sequence for human chromosome 14 available, gene searches were performed on selected intervals of the 14q11.2-q21 region to identify candidate genes for the observed phenotype in some of those affected. Gain of function of the gene PAX9 on chromosome 14 is a possible candidate for a t(14;18) patient affected with mesomelic bone dysplasia, Furthermore, a compilation of other human chromosome 14q proximal deletion and translocation cases was obtained from a search on cytogenetic databases. These findings suggest a locus for myelofibrosis at chromosome 14q13. This study contributes to useful information for identifying disease genes in this region. (C) 2001 Wiley-Liss, Inc.