Differentiated evolutionary rates in alternative exons and the implications for splicing regulation
BMC Evolutionary Biology, 2006 Background Alternatively spliced exons play an important role in the diversification of gene function in most metazoans and are highly regulated by conserved motifs in exons and introns.
Eyras Eduardo, Plass Mireya
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Intra- and Interspecies Analyses of the Carcinoembryonic Antigen (CEA) Gene Family Reveal Independent Evolution in Primates and Rodents [PDF]
, 1989 Various rodent and primate DNAs exhibit a stronger intra- than interspecies cross-hybridization with probes derived from the N-terminal domain exons of human and rat carcinoembryonic antigen (CEA)-like genes.
Rudert, Fritz +2 more
core +1 more source
A diverse epigenetic landscape at human exons with implication for expression
Nucleic Acids Research, 2015 DNA methylation is an important epigenetic marker associated with gene expression regulation in eukaryotes. While promoter methylation is relatively well characterized, the role of intragenic DNA methylation remains unclear.
Meromit Singer +3 more
semanticscholar +1 more source
The identification of switch-like alternative splicing exons among multiple samples with RNA-Seq data. [PDF]
PLoS ONE, 2017 Alternative splicing is an ubiquitous phenomenon in most human genes and has important functions. The switch-like exon is the type of exon that has a high level of usage in some tissues, but has a low level of usage in the other tissues.
Zhiyi Qin, Xuegong Zhang
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Rodent-specific alternative exons are more frequent in rapidly evolving genes and in paralogs
BMC Evolutionary Biology, 2009 Background Alternative splicing is an important mechanism for generating functional and evolutionary diversity of proteins in eukaryotes. Here, we studied the frequency and functionality of recently gained, rodent-specific alternative exons.
Mironov Andrey A +2 more
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Molecular Genetics & Genomic Medicine, 2022 Background Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation.
Niall Patrick Keegan, Sue Fletcher
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Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays. [PDF]
PLoS Computational Biology, 2006 Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays ...
Charles W Sugnet +10 more
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
, 2010 Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N +9 more
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Proceedings of the National Academy of Sciences of the United States of America, 1992 The CD44 molecule is known to display extensive size heterogeneity, which has been attributed both to alternative splicing and to differential glycosylation within the extracellular domain.
G. Screaton +5 more
semanticscholar +1 more source
Exon cloning: immunoenzymatic identification of exons of the chicken lysozyme gene. [PDF]
Proceedings of the National Academy of Sciences, 1982 A 10-kilobase DNA fragment containing exons 1 and 2 of the chicken lysozyme gene has been randomly cleaved with DNase I. After tailing and cloning into the plasmid pUK230, Lac+ colonies were selected. Colonies harboring expressed fragments of the exons could be detected by an immunoenzymatic assay using antibodies against lysozyme.
Rüther, U. +3 more
openaire +4 more sources