Genomics/AS Terms

pre-mRNA splicing

a molecular process that removes introns (noncoding regions) and joins exons (coding regions) in pre-mRNA to produce mature mRNA

transcriptome

The total collection of RNA molecules, including coding and noncoding RNAs, expressed in a specific cell, tissue, or organism

alternative splicing

a regulated splicing mechanism that produces multiple mRNA isoforms from a single gene, leading to protein diversity

spliceosome

a dynamic multiprotein and RNA complex responsible for accurately splicing pre-mRNA to generate mature mRNA transcripts

snRNP

a key component of the spliceosome; composed of small nuclear RNAs and associated proteins

splice site

a specific conserved sequence in pre-mRNA that defines the boundaries of introns and exons and is recognized by the spliceosome

splice isoform

different forms of a protein that arise from a single gene due to alternative splicing

exon skipping

form of AS where a specific exon is excluded from the final mRNA transcript during RNA processing

proteome

the entire set of proteins expressed by a genome, cell, tissue, or organism under specific conditions

posttranslational modification (PTM)

a covalent chemical modification of proteins, such as phosphorylation or ubiquitination, that alters their activity, localization, or stability

nonsense-mediated decay (NMD)

a cellular quality-control mechanism that degrades mRNA transcripts containing premature termination codons to prevent the production of truncated proteins

splicing regulatory element (SRE)

a cis-acting sequence in pre-mRNA that binds splicing factors to modulate the inclusion or exclusion of specific exons or introns

splicing factor (SF)

a protein that regulates splicing by interacting with spliceosomal components and specific sequences in the pre-mRNA transcript

de novo

process where new genes emerge from DNA sequences that were previously non-genic (not relating to or involving genes) or non-coding

hypofunctionalization

a process where both copies of a gene duplicate pair experience a reduction in expression levels, resulting in lower overall function; the total expression of the duplicate pair is reduced, but not to a point where the essential function is lost

subfunctionalization

a process where two gene copies, resulting from a gene duplication event, each take on a specific, non-overlapping subset of the functions of the original, single, ancestral gene; the two genes function together to perform the same overall task as the original gene.

neofunctionalization

evolutionary process where one of two or more duplicated genes gains a new function, while the original function is retained by another copy

homologous genes

genes inherited from a common ancestor; they are evolutionarily related (they share a common evolutionary origin)

homologous shuffling

a natural process during meiosis where DNA from paired homologous chromosomes is exchanged