TY - JOUR
T1 - Structure and chromosomal localization of the RAE28/HPHI gene, a human homologue of the Potyhomeotic gene
AU - Ohta, Hideaki
AU - Tokimasa, Sadao
AU - Zou, Zhihua
AU - Funaki, Souichiro
AU - Kurahashi, Hiroki
AU - Takahashi, Yuri
AU - Kimura, Misa
AU - Matsuoka, Rumiko
AU - Horie, Masato
AU - Hara, Junichi
AU - Shimada, Kazunori
AU - Takihara, Yoshihiro
N1 - Funding Information:
We thank Dr. M. Nozaki for insightful discussion, and M. Miyazaki, T. Sakaura, N. Sugimoto and K. Murata for technical assistance. We are also grateful for the generous use of Genome Information Research Center. This work was supported by a Grant-in-Aid for Scientific Research and a Grant-in-Aid for Creative Basic Research from the Ministry of Education, Science, Sports and Culture, Japan. This work is also supported by the Osaka Community Foundation and Osaka Cancer Research Foundation.
PY - 2000
Y1 - 2000
N2 - The Polycomb group of (Pc-G) genes and trithorax group of genes are known to play a crucial role in the maintenance of the transcriptional repression state of Hox genes, probably through modification of the chro-matin configuration. The rae28/mph1 gene is a mammalian homologue of the Drosophila polyhomeotic gene, which belongs to the Pc-G genes. As reported previously, we established mice deficient in the rae28/mph1 gene and showed that these homozygous animals displayed the developmental defects compatible with a human congenital disorder, CATCH22 syndrome. In this study we analyzed the structural organization of the human counterpart of the rae28/mphlgene (RAE28IHPH1) and its processed pseudogene (ΨPH), which are located on, respectively, human chromosome 12~13 and 12q13. The HPHl gene consists of 15 exons spanning approximately 26 kb and its structural organization is well conserved between mouse and human. These genetic information of the RAE28IHPHl gene may provide an important clue for further examination of its involvement in human congenital disorders related to CATCH22 syndrome.
AB - The Polycomb group of (Pc-G) genes and trithorax group of genes are known to play a crucial role in the maintenance of the transcriptional repression state of Hox genes, probably through modification of the chro-matin configuration. The rae28/mph1 gene is a mammalian homologue of the Drosophila polyhomeotic gene, which belongs to the Pc-G genes. As reported previously, we established mice deficient in the rae28/mph1 gene and showed that these homozygous animals displayed the developmental defects compatible with a human congenital disorder, CATCH22 syndrome. In this study we analyzed the structural organization of the human counterpart of the rae28/mphlgene (RAE28IHPH1) and its processed pseudogene (ΨPH), which are located on, respectively, human chromosome 12~13 and 12q13. The HPHl gene consists of 15 exons spanning approximately 26 kb and its structural organization is well conserved between mouse and human. These genetic information of the RAE28IHPHl gene may provide an important clue for further examination of its involvement in human congenital disorders related to CATCH22 syndrome.
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U2 - 10.3109/10425170009033970
DO - 10.3109/10425170009033970
M3 - Article
C2 - 10902910
AN - SCOPUS:12944289748
SN - 1940-1736
VL - 11
SP - 61
EP - 73
JO - Mitochondrial DNA
JF - Mitochondrial DNA
IS - 1-2
ER -