Characterization of the Human Jumonji Gene

• Published in: Human molecular genetics 1996-10, Vol.5 (10), p.1637-1641
• Main Authors: Bergé-Lefranc, Jean-Louis, Jay, Philippe, Massacrier, Annick, Cau, Pierre, Mattei, Marie Geneviève, Bauer, Sophie, Marsollier, Catherine, Berta, Philippe, Fontes, Michel
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 6; Cloning, Molecular; DNA, Complementary - analysis; DNA, Complementary - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Developmental; Genes. Genome; Humans; Mice; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Nerve Tissue Proteins - genetics; Polycomb Repressive Complex 2; Pregnancy; Sequence Alignment; Sequence Analysis; Sequence Homology, Amino Acid
• ISSN: 0964-6906; 1460-2083; 1460-2083
• DOI: 10.1093/hmg/5.10.1637

While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation. We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein. We show here that human and mouse jumonji putative proteins are homologous and present 90% identity. During human embryogenesis, JMJ mRNAs are predominantly expressed in neurons and particularly in dorsal root ganglion cells. They are also expressed in neurons of human adult cerebral cortex. In view of these observations, we propose JMJ as a candidate gene for developmental defects of the central nervous system in the human. The human JMJ gene maps at position 6p24–6p23.