H. Ohta et al., Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene, DNA SEQ, 11(1-2), 2000, pp. 61
The Polycomb group of (Pc-G) genes and trithorax group of genes are known t
o play a crucial role in the maintenance of the transcriptional repression
state of Hox genes, probably through modification of the chromatin configur
ation. The rae28/mph1 gene is a mammalian homologue of the Drosophila polyh
omeotic gene, which belongs to the Pc-G genes. As reported previously, we e
stablished mice deficient in the rae28/mph1 gene and showed that these homo
zygous animals displayed the developmental defects compatible with a human
congenital disorder, CATCH22 syndrome. In this study we analyzed the struct
ural organization of the human counterpart of the rae28/mph1gene (RAE28/HPH
1) and its processed pseudogene (psi PH), which are located on, respectivel
y, human chromosome 12p13 and 12q13. The HPH1 gene consists of 15 exons spa
nning approximately 26 kb and its structural organization is well conserved
between mouse and human. These genetic information of the RAE28/HPH1 gene
may provide an important clue for further examination of its involvement in
human congenital disorders related to CATCH22 syndrome.