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Transcription Factor Present (transcription + factor_present)
Selected AbstractsGenetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndromeDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2008Vimla S. Aggarwal Abstract Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that Tbx1, a T- box containing transcription factor present on the deleted region, is likely responsible for the etiology of the syndrome. Furthermore, mutations in TBX1 have been found in rare non-deleted patients. Despite having the same sized deletion, most VCFS/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we review mouse genetics studies, which may help identify possible genetic modifiers for the physical malformations in VCFS/DGS. © 2008 Wiley-Liss, Inc. Dev Disabil Res Rev 2008;14:19,25. [source] Up-Regulation of OsBIHD1, a Rice Gene Encoding BELL Homeodomain Transcriptional Factor, in Disease Resistance ResponsesPLANT BIOLOGY, Issue 5 2005H. Luo Abstract: In the present study, we cloned and identified a full-length cDNA of a rice gene, OsBIHD1, encoding a homeodomain type transcriptional factor. OsBIHD1 is predicted to encode a 642 amino acid protein and the deduced protein sequence of OsBIHD1 contains all conserved domains, a homeodomain, a BELL domain, a SKY box, and a VSLTLGL box, which are characteristics of the BELL type homedomain proteins. The recombinant OsBIHD1 protein expressed in Escherichia coli bound to the TGTCA motif that is the characteristic cis -element DNA sequence of the homeodomain transcriptional factors. Subcellular localization analysis revealed that the OsBIHD1 protein localized in the nucleus of the plant cells. The OsBIHD1 gene was mapped to chromosome 3 of the rice genome and is a single-copy gene with four exons and three introns. Northern blot analysis showed that expression of OsBIHD1 was activated upon treatment with benzothiadiazole (BTH), which is capable of inducing disease resistance. Expression of OsBIHD1 was also up-regulated rapidly during the first 6 h after inoculation with Magnaporthe grisea in BTH-treated rice seedlings and during the incompatible interaction between M. grisea and a resistant genotype. These results suggest that OsBIHD1 is a BELL type of homeodomain transcription factor present in the nucleus, whose induction is associated with resistance response in rice. [source] The expression of Scratch genes in the developing and adult brainDEVELOPMENTAL DYNAMICS, Issue 9 2006Faustino Marín Abstract The Scratch genes belong to the Snail superfamily of zinc-finger transcription factors present in the metazoa, represented in mammals by the Scratch1 and Scratch2 genes. We have analyzed the expression of these genes in the brain of mice at developmental stages between 9.5 days-post-coitum to adulthood. Both genes are expressed in the mantle layer of the neuroepithelium at mid-gestational stages in all regions except for the region corresponding to the V2 interneuron column, which lacked Scratch2 transcripts. From perinatal to adult stages, the expression patterns of the two genes differ. Scratch1 remains strongly expressed in almost all brain regions, although it is not found in some ventral structures such as motor nuclei and hypothalamic regions. In contrast, Scratch2 expression progressively diminishes and virtually no expression can be detected in the adult brain. Nevertheless, strong expression of Scratch2 is retained in the postnatal cortical subventricular zone, in the inner part of the cerebellar external granular layer, and in the glial cells of the adult vomeronasal nerve. Developmental Dynamoics 235:2586,2591, 2006. © 2006 Wiley-Liss, Inc. [source] THE CONNEXIN 32 NERVE-SPECIFIC PROMOTER IS DIRECTLY ACTIVATED BY Egr2/Krox20 IN HeLa CELLSJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2002M. Musso Connexin 32 (Cx32) belongs to a protein family that forms intercellular channels mediating the exchange of ions and chemical messengers. In the peripheral nervous system (PNS) Cx32 is expressed in Schwann cells and contributes to the homeostasis and structural integrity of myelin. Mutations of this gene determine X-linked form of Charcot Marie-Tooth (CMTX) disease. Cx 32 is transcriptionally regulated in a tissue-specific manner by two different promoters termed P1 and P2. P2, active in Schwann cells, is located 5 kb downstream from the P1 promoter and at 500 bp from the exon 2 that contains the entire coding region. Previously, by Electrophoretical Mobility Shift Assay (EMSA) we have identified a sequence (-101/-93), within P2, specifically recognized by recombinant Egr2. In order to prove the direct involvement of Egr2 in the transcriptional control of the Cx32 gene, we have performed transfection experiments in HeLa cells with a luciferase driven by the P2 promoter in presence or not of a vector expressing Krox20, the mouse homologue of human Egr2. We have found that the construct in which the sequence -103/-93 is mutated is not activated as well as the wild type sequence. Moreover we have detected another upstream sequence (-236/-213) recognized by recombinant Egr2 and other transcription factors present in HeLa nuclear extract like SP1. The construct, lacking this sequence and carrying the mutated downstream Egr2 recognition sequence, is not activated at all by Krox20. Taken together these findings strongly suggest the role of Egr2 in the transcriptional control of Connexin 32 through both sequences. The laboratory is a member of the European CMT Consortium; partially granted by Ministero della Sanit, to PM, MURST and Ateneo to FA. [source] | ||||||||||