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Publication : Localization of a gene required for the nuclear translocation of the dioxin receptor to human chromosome 1 and mouse chromosome 3 and a human RFLP with MspI

First Author  Brooks B Year  1989
Journal  Am J Hum Genet Volume  45
Pages  A132 (Abstr.) Mgi Jnum  J:12121
Mgi Id  MGI:60374 Citation  Brooks B, et al. (1989) Localization of a gene required for the nuclear translocation of the dioxin receptor to human chromosome 1 and mouse chromosome 3 and a human RFLP with MspI. Am J Hum Genet 45:A132 (Abstr.)
abstractText  Full text of Abstract. A132 Mapping and Linkage. Localization of a gene required for the nuclear translocation of the dioxin receptor to human chromosome 1 and mouse chromosome 3 and a human RFLP with Msp I. B. Brooks1, B. Johnson1, C. Heinzmann1, T. Mohandas2, R. Sparkes1, S. Jones3, P. Bennett3, T. Balacs3, G. Moore3, L. Conley1, and O. Hankinson1. UCLA School of Medicine, Los Angeles, CA1, Harbor/UCLA Medical Center, Torrance, CA2, Queen Charlotte's Hospital, Univ. of London, London, U.K.3 The cytosolic dioxin receptor translocates to the nucleus upon binding of ligand. Ligands include dioxin and polycyclic aromatic hydrocarbons (PAH). It then initiates transcription of a battery of genes involved in the activation of PAH procarcinogens. A cDNA for a human gene required for the translocation of the ligand-bound receptor into the nuclear compartment has recently been isolated. We report here chromosomal localization, RFLP analysis and tissue specific expression of this gene. Eco Rl digested DNA from a panel of 16 mouse x human somatic cell hybrids was probed with a 2.2 kb fragment from the cDNA. Five of the sixteen independent mouse x human hybrids were positive for human bands. Human chromosome 1 showed complete cosegregation with the gene while discordant segregation was observed for all other human chromosomes. The gene was further localized to 1pter-1q12 using DNA from a mouse x human hybrid clone retaining an X/1 translocation. The human 2.2 kb CDNA probe was used to map the murlne homologue. Six out of sixteen mouse x hamster hybrids were positive for mouse DNA and showed complete concordance with chromosome 3. Therefore, this gene is another member of the conserved syntenic group on mouse chromosome 3 and human 1p that includes NRAS, NGFB, TSHB, and AMY. In further studies, an RFLP was detected in humans using the restriction enzyme Msp I. The allele frequency in 17 unrelated individuals was 66% for a 2.85 kb band (A1) and 34% for a 2.71 kb band (A2). Hind III, Eco RI, Taq I and Xba I did not detect polymorphisms in five unrelated individuals. The RFLP with MSP I should be useful in further mapping of this gene. Northern blots of various human tissues were probed with the 2.2 kb cDNA fragment. Preliminary results show that this gene is expressed in liver, placenta and chorlon. (Supported in part by the Margaret E. Early Medical Research Trust.)
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