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Alternative splicing is one of the most important mechanisms to generate a large number of mRNA and protein isoforms from the surprisingly low number of human genes. Unlike promoter activity, which primarily regulates the amount of transcripts, alternative splicing changes the structure of transcripts and their encoded proteins. Together with nonsense-mediated decay (NMD), at least 25% of all alternative...
The deafness–pigmentary disorder Waardenburg Syndrome Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) gene. Multiple related deafness–pigmentary disorders result from mutations in genes that regulate MITF expression or its activity. Similarly in mouse, homozygous mutations in the Mitf gene disrupt the development of melanocytes as well as retinal pigment...
Preliminary results have shown that various proteins bind long 3′UTR of the transcript for Paracentrotus lividus sea urchin H3.3 histone variant and are probably implicated in mRNA instability. In order to identify these RNA-binding proteins, we screened a λ-ZAPII cDNA expression library prepared from poly(A) mRNA extracted from sea urchin embryos at blastula stage. We isolated a cDNA that codes for...
Mammalian Trio is a multifunctional, multidomain Rho guanine nucleotide exchange factor (GEF) closely related to Kalirin. Trio is important for proper axon guidance in Drosophila, and mice lacking Trio exhibit both skeletal muscle and neuronal disorders. Full length mammalian Trio and Kalirin both consist of a Sec14P-like domain, several spectrin-like domains, two Rho GEF domains each containing a...
The human gene encoding the Na + /Ca 2+ exchanger family member 3 (NCX3) undergoes extensive alternative splicing, with four variants previously identified. In this study, we report two novel alternative transcripts encoding two N-terminally truncated NCX3 proteins specifically expressed in human fetal brain. The identified transcripts, designated NCX3-tN.1 and NCX3-tN.2, are approximately...
We completely sequenced a 516,013-bp portion of the porcine genome that encompassed a cluster of genes for chemokine (C–C motif) receptors (CC chemokine receptors). We identified genes for six CC chemokine receptors (CCR1, CCR2, CCR3, CCR5, CCR9, and CCRL2) and two other chemokine receptors (CXCR6 and XCR1) in this region. Clarification of the entire structure of the region and the respective genes...
The mitochondrial transcription factor A (Tfam) is a member of the HMG-box protein family, necessary for both transcription and maintenance of mitochondrial DNA. The gene is structured in seven exons and six introns and it is estimated to span about 10 kb in mouse, human and rat. In addition to the full length mRNA of Tfam, a shorter mRNA isoform lacking exon 5 has been found to be widely distributed...
A rare mRNA variant of the human lymphocyte-specific protein tyrosine kinase LCK gene that retains intron B and excludes exon 7 (B + 7 − ) due to alternative splicing of the canonical LCK transcripts was identified and characterized. LCK B + 7 − mRNA is detected in all tested peripheral blood T lymphocytes total RNA samples but is apparently sequestered in the nucleus...
In this study we describe the identification and characterization of a novel cytosolic protein of the guanine exchange factor (GEF) family. The human cDNA corresponds to predicted human protein FLJ00128/FLJ10357 located on chromosome 14q11.2. The deduced protein sequence contains in its C-terminus a RhoGEF domain followed by a pleckstrin domain. Its N-terminus, central region and RhoGEF/pleckstrin...
Tfam is a single copy nuclear gene mapping on chromosome 10 in human and mouse, 20 in rat and 12 in Presbytis cristata. It encodes for an HMG (high-mobility-group) protein showing a high affinity with the two transcriptional promoters and other mitochondrial DNA regions. It is an activator of mitochondrial transcription acting in the presence of mitochondrial RNA polymerase and of transcription factor...
Sphingomyelin synthase 1 (SMS1) is a recently identified 413-residue protein that plays a critical role in sphingolipid metabolism by catalyzing the conversion of ceramide and phosphatidylcholine to sphingomyelin and diacylglycerol (DAG). We have previously reported the isolation of a mouse SMS1 encoding cDNA that contains a unique 5′ UTR sequence. Three other mouse SMS1 cDNAs that differed in their...
We report here two previously unknown alternative splice sites in the mRNA of human adenosine deaminase acting on RNA type 2 (ADAR2), an RNA editing enzyme. One splices out the whole of exon 2, which encodes two double-stranded RNA-binding domains (dsRBDs), resulting in a frameshift that introduces a stop codon in the downstream exon. This variant accounts for between 13% and 20% of the total ADAR2...
In this study we report the characterisation of a new splice variant, here denominated splice variant 4 (accession number AF258557) of the human Multiple Ankyrin repeats Single KH domain (hMASK) (accession number AF521882) and the hMASK-4E-Binding Protein 3 Alternative Reading Frame (hMASK-BP3 ARF ) (accession number AF521883), containing a number of ANK-repeat motifs. Ankyrin (ANK) repeat-containing...
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