Topic
Exon
About: Exon is a research topic. Over the lifetime, 38308 publications have been published within this topic receiving 1745408 citations. The topic is also known as: exons.
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TL;DR: The elucidation of the complete DNA sequence of the human H PRT gene locus has enabled the construction of multiple oligonucleotide primer sets for the simultaneous in vitro amplification of all nine HPRT exons, and the multiplex polymerase chain reaction provides a facile assay for the detection of HPRt exon deletions.
321 citations
01 Jan 1982
TL;DR: The nucleotide sequences of three nonallelic human genomic DNA fragments which each contain one member of the growth hormone gene family are presented and reflecting recent gene divergence, 90-95% sequence homology is seen.
Abstract: The nucleotide sequences of three nonallelic human genomic DNA fragments which each contain one member of the growth hormone gene family are presented. These genes code for the known polypeptide hormones, growth hormone (hGH), chorionic somatomammotropin (hCS), and a yet unknown protein which differs from hGH in 13 positions. Each gene is structured into five exons, the four introns occurring at identical positions. Reflecting recent gene divergence, 90-95% sequence homology is seen in exons, introns, 5′, and immediate 3′ nontranscribed regions. The regions downstream of the polyadenylation sites in the genes for hGH and its variant, but not for hCS, contain members of an Alu family repeat sequence.
321 citations
TL;DR: The results demonstrate that the regulatory effects of genetic variation in a normal human population are far more complex than previously observed, and this extra layer of molecular diversity may account for natural phenotypic variation and disease susceptibility.
Abstract: We have performed a genome-wide analysis of common genetic variation controlling differential expression of transcript isoforms in the CEU HapMap population using a comprehensive exon tiling microarray covering 17,897 genes. We detected 324 genes with significant associations between flanking SNPs and transcript levels. Of these, 39% reflected changes in whole gene expression and 55% reflected transcript isoform changes such as splicing variants (exon skipping, alternative splice site use, intron retention), differential 5' UTR (initiation of transcription) use, and differential 3' UTR (alternative polyadenylation) use. These results demonstrate that the regulatory effects of genetic variation in a normal human population are far more complex than previously observed. This extra layer of molecular diversity may account for natural phenotypic variation and disease susceptibility.
321 citations
TL;DR: Alternative splicing of a 36 base pair exon, exon 11, generates hINSR transcripts encoding receptor isoforms which differ in sequence at the C-terminal end of the insulin-binding alpha-subunit.
320 citations
TL;DR: It is suggested that the current set of 228 yeast introns is still not complete, and that additional intron-containing genes remain to be discovered in yeast, but that splicing in yeast may not be as rigidly determined by splice-site conservation as had previously been thought.
Abstract: Introns have typically been discovered in an ad hoc fashion: introns are found as a gene is characterized for other reasons. As complete eukaryotic genome sequences become available, better methods for predicting RNA processing signals in raw sequence will be necessary in order to discover genes and predict their expression. Here we present a catalog of 228 yeast introns, arrived at through a combination of bioinformatic and molecular analysis. Introns annotated in the Saccharomyces Genome Database (SGD) were evaluated, questionable introns were removed after failing a test for splicing in vivo, and known introns absent from the SGD annotation were added. A novel branchpoint sequence, AAUUAAC, was identified within an annotated intron that lacks a six-of-seven match to the highly conserved branchpoint consensus UACUAAC. Analysis of the database corroborates many conclusions about pre-mRNA substrate requirements for splicing derived from experimental studies, but indicates that splicing in yeast may not be as rigidly determined by splice-site conservation as had previously been thought. Using this database and a molecular technique that directly displays the lariat intron products of spliced transcripts (intron display), we suggest that the current set of 228 introns is still not complete, and that additional intron-containing genes remain to be discovered in yeast. The database can be accessed at http://www.cse.ucsc.edu/research/compbio/yeast_ introns.html.
319 citations