A significant fraction of the variability found in the human transcriptome is due to alternative splicing, including alternative exon usage (AEU), intron retention and use of cryptic splice sites. We present a comparison of a large-scale analysis of AEU in the human transcriptome through genome mapping of Open Reading Frame ESTs (ORESTES) and conventional ESTs. It is shown here that ORESTES probe low abundant messages more efficiently. In addition, most of the variants detected by ORESTES affect the structure of the corresponding proteins.
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http://dx.doi.org/10.1016/j.crvi.2003.09.027 | DOI Listing |
Nucleic Acids Res
December 2024
Biology Department, Boston University, 24 Cummington Ave., Boston, 02215, USA.
Exons within transcripts are traditionally classified as first, internal or last exons, each governed by different regulatory mechanisms. We recently described the widespread usage of 'hybrid' exons that serve as terminal or internal exons in different transcripts. Here, we employ an interpretable deep learning pipeline to dissect the sequence features governing the co-regulation of transcription initiation and splicing in hybrid exons.
View Article and Find Full Text PDFExp Eye Res
December 2024
Department of Medical Genetics, University of British Columbia, Life Sciences Institute, 2350 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada. Electronic address:
The Mitf transcription factor is a critical regulator of the melanocyte lineage and eye development. Mitf activity in different cell types is controlled in part by ten alternative promoters and their resulting isoforms. A useful tool for melanocyte-based research, Mitf-cre was designed to express Cre from the Mitf-M promoter, which is melanocyte specific.
View Article and Find Full Text PDFElife
December 2024
Department of Biochemistry, University of Wisconsin-Madison, Madison, United States.
Mol Neurobiol
December 2024
Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial role in repression of gene transcription in a highly tissue- and temporal-specific manner. Mutations resulting in heterozygous loss-of-function (LoF) of EHMT1 are implicated in Kleefstra syndrome 1 (KS1).
View Article and Find Full Text PDFFree Radic Biol Med
December 2024
Departments of Pathology and Laboratory Medicine, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Ishikawa, 920-0293, Japan.
Peroxiredoxin (PRDX) primarily employs electrons from thioredoxin in order to reduce peroxides. PRDX4 mainly resides either in the endoplasmic reticulum (ER) lumen or in extracellular spaces. Due to the usage of alternative promoters, a first exon is transcribed from different regions of the Prdx4 gene, which results in two types of mRNAs.
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