Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

Alternative splicing and evolution: diversification, exon definition and function

H Keren, G Lev-Maor, G Ast - Nature Reviews Genetics, 2010 - nature.com
Over the past decade, it has been shown that alternative splicing (AS) is a major mechanism
for the enhancement of transcriptome and proteome diversity, particularly in mammals …

Taming transposable elements in vertebrates: from epigenetic silencing to domestication

MV Almeida, G Vernaz, ALK Putman, EA Miska - Trends in Genetics, 2022 - cell.com
Transposable element (TE)-derived sequences are ubiquitous in most eukaryotic genomes
known to date. Because their expression and mobility can lead to genomic instability …

Regulation of alternative splicing through coupling with transcription and chromatin structure

S Naftelberg, IE Schor, G Ast… - Annual review of …, 2015 - annualreviews.org
Alternative precursor messenger RNA (pre-mRNA) splicing plays a pivotal role in the flow of
genetic information from DNA to proteins by expanding the coding capacity of genomes …

Alternative mRNA transcription, processing, and translation: insights from RNA sequencing

E de Klerk, P AC't Hoen - Trends in Genetics, 2015 - cell.com
The human transcriptome comprises> 80000 protein-coding transcripts and the estimated
number of proteins synthesized from these transcripts is in the range of 250000 to 1 million …

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

T Walsh, S Casadei, KH Coats, E Swisher, SM Stray… - Jama, 2006 - jamanetwork.com
ContextGenetic testing for inherited mutations in BRCA1 and BRCA2 has become integral to
the care of women with a severe family history of breast or ovarian cancer, but an unknown …

How did alternative splicing evolve?

G Ast - Nature Reviews Genetics, 2004 - nature.com
Alternative splicing creates transcriptome diversification, possibly leading to speciation. A
large fraction of the protein-coding genes of multicellular organisms are alternatively spliced …

Genome-wide discovery of human splicing branchpoints

TR Mercer, MB Clark, SB Andersen, ME Brunck… - Genome …, 2015 - genome.cshlp.org
During the splicing reaction, the 5′ intron end is joined to the branchpoint nucleotide,
selecting the next exon to incorporate into the mature RNA and forming an intron lariat …

Inviting instability: transposable elements, double-strand breaks, and the maintenance of genome integrity

DJ Hedges, PL Deininger - Mutation Research/Fundamental and Molecular …, 2007 - Elsevier
The ubiquity of mobile elements in mammalian genomes poses considerable challenges for
the maintenance of genome integrity. The predisposition of mobile elements towards …

Alu elements as regulators of gene expression

J Häsler, K Strub - Nucleic acids research, 2006 - academic.oup.com
Alu elements are the most abundant repetitive elements in the human genome; they
emerged 65 million years ago from a 5′ to 3′ fusion of the 7SL RNA gene and amplified …