What is aberrant gene splicing?
The proteins encoded by these abnormal transcripts are often truncated or missing domains, thereby altering protein function or conferring new functions altogether. Thus, aberrant splicing regulation has genome-wide effects, potentially altering gene expression in many cancer-associated pathways.
Do Drosophila melanogaster genes exhibit alternate splicing?
Alternative splicing expands the coding capacity of metazoan genes, and it was largely genetic studies in the fruit-fly Drosophila melanogaster that established the principle that regulated alternative splicing results in tissue- and stage-specific protein isoforms with different functions in development.
What is gender specific splicing in Drosophila?
In females, SXL controls the splicing of tra to produce a functional TRA protein, which, together with TRA2, promotes female-specific splicing of the dsx and fru transcription factors that go on to direct female-specific development of somatic tissues.
How does alternative splicing affect gene expression?
More often, alternative splicing seems to modulate gene function by adding or removing protein domains, affecting protein activity, or altering the stability of the transcript or the resulting protein.
What is meant by alternative splicing?
Alternative splicing is the process of selecting different combinations of splice sites within a messenger RNA precursor (pre-mRNA) to produce variably spliced mRNAs. These multiple mRNAs can encode proteins that vary in their sequence and activity, and yet arise from a single gene.
What is alternative splicing and why is it beneficial in an organism?
Alternative splicing is a molecular mechanism that modifies pre-mRNA constructs prior to translation. This process can produce a diversity of mRNAs from a single gene by arranging coding sequences (exons) from recently spliced RNA transcripts into different combinations.
How is alternative splicing useful to eukaryotic gene expression?
Alternative splicing of RNA is a crucial process for changing the genomic instructions into functional proteins. It plays a critical role in the regulation of gene expression and protein diversity in a variety of eukaryotes. In humans, approximately 95% of multi-exon genes undergo alternative splicing.
What is intronic mutation?
Intronic mutations, which were more than 20 bp away from the nearest exon-intron junction, were defined as deep intronic mutations, because the fraction of the mutations discovered by whole-exome sequencing started dramatically declining at 20 bp from the nearest exon-intron junction (Supplementary Fig. 1b).
What is a deep intronic mutation?
Definition. Deep intronic variants are those genetic variants falling more than 100bp away from the closest exon-intron boundary. Of course, like all other type of variants, deep intronic variants may be be pathogenic, but their pathogenicity is hard to be confirmed.
What is the purpose of alternative splicing in eukaryotic cells?
Alternative splicing provides multicellular organisms with an extended proteome, the possibility of cell type- and species-specific protein isoforms without increasing the gene number, and the possibility of regulating the production of different proteins through specific signalling pathways.
Does alternative splicing mediate sex determination in Drosophila?
Alternative splicing mediates sex determination in Drosophila, and our RNA-Seq data confirm sex-biased splicing of genes involved in sex determination. For example, we detect one of the exons included in males and spliced out in females for Sxl in the two Drosophila species for which we have developmental expression data ( S4 Fig ).
What is alternative splicing?
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.
How many protein isoforms does alternative splicing produce?
Alternative splicing produces three protein isoforms. Protein A includes all of the exons, whereas Proteins B and C result from exon skipping. Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins.
How many multi-exon genes are alternatively spliced in Drosophila?
Here we study the transcriptomes from several tissues and developmental stages in males and females from four species across the Drosophila genus. We find that 20–37% of multi-exon genes are alternatively spliced.
