21 research outputs found

    Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

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    Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis

    5-HT4 Receptors: Cloning and Expression of New Splice Variants

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    International audienceOn the basis of differences in the potencies and intrinsic activity of 5-HT4 receptor agonists in different biological models it has been suggested that there is heterogeneity among 5-HT4 receptors. Here, we report the molecular cloning of several 5-HT4 receptor splice variants in mouse, rat, and human brain. Our data suggest that the differences in efficacy of 5-HT4 ligands on 5-HT4 receptor-mediated responses in several tissues is due to differences in coupling efficiency rather than to the presence of different 5-HT4 receptor isoforms

    The human SOX11 gene: Cloning, chromosomal assignment and tissue expression

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    The mammalian testis determining gene SRY contains an HMG box-related DNA binding motif. By analogy a family of genes related to SRY in the HMG domain have been called SOX (SRY box-related genes). We have cloned and characterized the human SOX11 gene using the partial cloning of both human and mouse SOX11 genes and mapped it to chromosome 2p25. The SOX11 sequence is strongly conserved with the chicken homologue and is related to SOX4. It contains several putative transcriptional either activator or repressor domains. SOX11 expression pattern is consistent with the hypothesis that this gene is important in the developing nervous system
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