Topic
Exon
About: Exon is a research topic. Over the lifetime, 38308 publications have been published within this topic receiving 1745408 citations. The topic is also known as: exons.
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TL;DR: It is proposed that Sxl encodes a factor that interacts with both its own pre-mRNA and that of downstream genes to confer female-specific splicing, so that a single, simple mechanism could account for both the maintenance and expression of the sexually determined state.
435 citations
TL;DR: A mechanism for PTB to modulate splice site competition to produce opposite functional consequences is suggested, which may be generally applicable to RNA-binding splicing factors to positively or negatively regulate alternative splicing in mammalian cells.
435 citations
01 Jan 1996
TL;DR: In this paper, the C-terminal region of BRCA1 fused to GAL4 DNA binding domain can activate transcription both in yeast and mammalian cells, and the region comprising exons 21-24 (aa 1760-1863) is defined as the minimal transactivation domain.
Abstract: Mutations in BRCA1 account for 45% of families with high incidence of breast cancer and for 80-90% of families with both breast and ovarian cancer. BRCA1 protein includes an amino-terminal zinc finger motif as well as an excess of negatively charged amino acids near the C terminus. In addition, BRCA1 contains two nuclear localiza- tionsignalsandlocalizestothenucleusofnormalcells.While these features suggest a role in transcriptional regulation, no function has been assigned to BRCA1. Here, we show that the C-terminalregion,comprisingexons16-24(aa1560-1863)of BRCA1 fused to GAL4 DNA binding domain can activate transcription both in yeast and mammalian cells. Further- more, we define the region comprising exons 21-24 (aa 1760-1863) as the minimal transactivation domain. Any one offourgerm-linemutationsintheC-terminalregionfoundin patients with breast or ovarian cancer (Ala-1708 3 Glu, Gln-1756 C1, Met-1775 3 Arg, Tyr-1853 3 Stop), had markedlyimpairedtranscriptionactivity.Togetherthesedata underscorethenotionthatoneofthefunctionsofBRCA1may be the regulation of transcription.
435 citations
TL;DR: Capmatinib showed substantial antitumor activity in patients with advanced NSCLC with a MET exon 14 skipping mutation, particularly in those not treated previously, and was higher in tumors with a high genecopy number than in those with a low gene copy number.
Abstract: Background Among patients with non–small-cell lung cancer (NSCLC), MET exon 14 skipping mutations occur in 3 to 4% and MET amplifications occur in 1 to 6%. Capmatinib, a selective inhibito...
435 citations
TL;DR: Nsp14-ExoN is essential for replication fidelity, and likely serves either as a direct mediator or regulator of a more complex RNA proofreading machine, a process previously unprecedented in RNA virus biology, and will provide a robust model to investigate the balance between fidelity, diversity and pathogenesis.
Abstract: In order to survive and propagate, RNA viruses must achieve a balance between the capacity for adaptation to new environmental conditions or host cells with the need to maintain an intact and replication competent genome Several virus families in the order Nidovirales, such as the coronaviruses (CoVs) must achieve these objectives with the largest and most complex replicating RNA genomes known, up to 32 kb of positive-sense RNA The CoVs encode sixteen nonstructural proteins (nsp 1-16) with known or predicted RNA synthesis and modification activities, and it has been proposed that they are also responsible for the evolution of large genomes The CoVs, including murine hepatitis virus (MHV) and SARS-CoV, encode a 3'-to-5' exoribonuclease activity (ExoN) in nsp14 Genetic inactivation of ExoN activity in engineered SARS-CoV and MHV genomes by alanine substitution at conserved DE-D-D active site residues results in viable mutants that demonstrate 15- to 20-fold increases in mutation rates, up to 18 times greater than those tolerated for fidelity mutants of other RNA viruses Thus nsp14-ExoN is essential for replication fidelity, and likely serves either as a direct mediator or regulator of a more complex RNA proofreading machine, a process previously unprecedented in RNA virus biology Elucidation of the mechanisms of nsp14-mediated proofreading will have major implications for our understanding of the evolution of RNA viruses, and also will provide a robust model to investigate the balance between fidelity, diversity and pathogenesis The discovery of a protein distinct from a viral RdRp that regulates replication fidelity also raises the possibility that RNA genome replication fidelity may be adaptable to differing replication environments and selective pressures, rather than being a fixed determinant
435 citations