| First Author | Mattei MG | Year | 1989 |
| Journal | Cytogenet Cell Genet | Volume | 51 |
| Pages | 1041-1042 (A2658 - abstr.) | Mgi Jnum | J:12499 |
| Mgi Id | MGI:60744 | Citation | Mattei MG, et al. (1989) The putative X fragile site region in the mouse delineated by in situ hybridization of two genes flanking the human FRA XA. Cytogenet Cell Genet 51:1041-1042 (A2658 - abstr.) |
| abstractText | Full text of Abstract: The putative X fragile site region in the mouse delineated by in situ hybridization of two genes flanking the human FRA XA. (A2658). M-G Mattei1, E Passage1, F Galland2, D Birnbaum2, C Goridis1, M Moose4, J-F Mattei1. 1INSERM U.242 & Centre de Genetique Medicale, Hopital d'Enfants de la Timone, Marseille; 2INSERM U.119, Marseille; 3Centre d'lmmunologie INSERM-CNRS de Marseille-Luminy, Marseille; 4Department of Neurobiology, University of Heidelberg, Heidelberg. The fragile-X syndrome, one of the most common forms of X-linked mental retardation, is associated with a fragile-X site at the Xq27-3 band. Yet the nature of the molecular defect in fra-X mental retardation and the structure of DNA in the fragile site are still unknown. For a better understanding of this affection we tried to define, by in situ hybridization (ISH), the putative FRA X A region in the mouse. Two probes were used for in situ hybridization on human and mouse genomes: 1) a murine cDNA clone (pK 13) coding for the L1 adhesion molecule (M. Moose). This probe was first hybridized with metaphases of a normal human subject, and mapped to the Xq28 band. With metaphases of a fra-X mentally retarded subject, the probe L1 hybridized on the distal tip of the X fragile site. Finally, the probe L1, by ISH with metaphases of a female WMP mouse, gave a cluster of silver grains in the XA7-XB region. 2) a murine cDNA clone (pMTl) coding for the mcf.2 transforming sequence (D. Birnbaum). This gene was already mapped to the human Xq27 band, in the proximal reeion of the X fragile site (EMBO J. 5:1301-7, 1987). The pMTl probe, hybridized with metaphases of a female WMP mouse, gave a peak in the XA6-XA7 region. In conclusion, the mouse XA6-XB region seems to be homologous to the human Xq27-Xq28 region and then could be considered as the putative FRA XA region. It would be of interest to study if this mouse XA6-XB region shows the same distortion between the cytogenetic map and the genetic map demonstrated in the human Xq27-Xq28 region. |
