scholarly journals Predicting Coding Potential from Genome Sequence: Application to Betaherpesviruses Infecting Rats and Mice

2005 ◽  
Vol 79 (12) ◽  
pp. 7570-7596 ◽  
Author(s):  
Luciano Brocchieri ◽  
Thomas N. Kledal ◽  
Samuel Karlin ◽  
Edward S. Mocarski
Keyword(s):  
Genome Annotation ◽  
Mrna Splicing ◽  
Overlapping Genes ◽  
Genome Sequences ◽  
Protein Coding ◽  
Coding Regions ◽  
Translation Signals ◽  
Rats And Mice ◽  
Coding Potential ◽  
Exon Gene

ABSTRACT Prediction of protein-coding regions and other features of primary DNA sequence have greatly contributed to experimental biology. Significant challenges remain in genome annotation methods, including the identification of small or overlapping genes and the assessment of mRNA splicing or unconventional translation signals in expression. We have employed a combined analysis of compositional biases and conservation together with frame-specific G+C representation to reevaluate and annotate the genome sequences of mouse and rat cytomegaloviruses. Our analysis predicts that there are at least 34 protein-coding regions in these genomes that were not apparent in earlier annotation efforts. These include 17 single-exon genes, three new exons of previously identified genes, a newly identified four-exon gene for a lectin-like protein (in rat cytomegalovirus), and 10 probable frameshift extensions of previously annotated genes. This expanded set of candidate genes provides an additional basis for investigation in cytomegalovirus biology and pathogenesis.

scholarly journals Overexpression-based detection of translatable circular RNAs is vulnerable to coexistent linear RNA byproducts

2021 ◽  
Author(s):  
Yanyi Jiang ◽  
Xiaofan Chen ◽  
Wei Zhang
Keyword(s):  
Open Reading Frames ◽  
Systematic Evaluation ◽  
Circular Rnas ◽  
Protein Coding ◽  
Rolling Circle ◽  
Functional Investigation ◽  
Overexpression System ◽  
Translation Signals ◽  
Coding Potential ◽  
Reading Frames

AbstractIn RNA field, the demarcation between coding and non-coding has been negotiated by the recent discovery of occasionally translated circular RNAs (circRNAs). Although absent of 5’ cap structure, circRNAs can be translated cap-independently. Complementary intron-mediated overexpression is one of the most utilized methodologies for circRNA research but not without bearing echoing skepticism for its poorly defined mechanism and latent coexistent side products. In this study, leveraging such circRNA overexpression system, we have interrogated the protein-coding potential of 30 human circRNAs containing infinite open reading frames in HEK293T cells. Surprisingly, pervasive translation signals are detected by immunoblotting. However, intensive mutagenesis reveals that numerous translation signals are generated independently of circRNA synthesis. We have developed a dual tag strategy to isolate translation noise and directly demonstrate that the fallacious translation signals originate from cryptically spliced linear transcripts. The concomitant linear RNA byproducts, presumably concatemers, can be translated to allow pseudo rolling circle translation signals, and can involve backsplicing junction (BSJ) to disqualify the BSJ-based evidence for circRNA translation. We also find non-AUG start codons may engage in the translation initiation of circRNAs. Taken together, our systematic evaluation sheds light on heterogeneous translational outputs from circRNA overexpression vector and comes with a caveat that ectopic overexpression technique necessitates extremely rigorous control setup in circRNA translation and functional investigation.

scholarly journals Overlapping protein-coding genes in human genome and their coincidental expression in tissues

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Chao-Hsin Chen ◽  
Chao-Yu Pan ◽  
Wen-chang Lin
Keyword(s):  
Human Genome ◽  
Expression Profiles ◽  
Tissue Expression ◽  
Human Protein ◽  
Clear Understanding ◽  
Overlapping Genes ◽  
Genome Sequences ◽  
Protein Coding ◽  
Protein Coding Genes ◽  
Overlapping Gene

Abstract The completion of human genome sequences and the advancement of next-generation sequencing technologies have engendered a clear understanding of all human genes. Overlapping genes are usually observed in compact genomes, such as those of bacteria and viruses. Notably, overlapping protein-coding genes do exist in human genome sequences. Accordingly, we used the current Ensembl gene annotations to identify overlapping human protein-coding genes. We analysed 19,200 well-annotated protein-coding genes and determined that 4,951 protein-coding genes overlapped with their adjacent genes. Approximately a quarter of all human protein-coding genes were overlapping genes. We observed different clusters of overlapping protein-coding genes, ranging from two genes (paired overlapping genes) to 22 genes. We also divided the paired overlapping protein-coding gene groups into four subtypes. We found that the divergent overlapping gene subtype had a stronger expression association than did the subtypes of 5ʹ-tandem overlapping and 3ʹ-tandem overlapping genes. The majority of paired overlapping genes exhibited comparable coincidental tissue expression profiles; however, a few overlapping gene pairs displayed distinctive tissue expression association patterns. In summary, we have carefully examined the genomic features and distributions about human overlapping protein-coding genes and found coincidental expression in tissues for most overlapping protein-coding genes.

scholarly journals Use of Average Mutual Information and Derived Measures to Find Coding Regions

Entropy ◽  
2021 ◽  
Vol 23 (10) ◽  
pp. 1324
Author(s):  
Garin Newcomb ◽  
Khalid Sayood
Keyword(s):  
Mutual Information ◽  
Genome Annotation ◽  
High Accuracy ◽  
Gene Identification ◽  
Coding Region ◽  
Average Mutual Information ◽  
Protein Coding ◽  
Noncoding Sequences ◽  
Coding Regions ◽  
Genomic Regions

One of the important steps in the annotation of genomes is the identification of regions in the genome which code for proteins. One of the tools used by most annotation approaches is the use of signals extracted from genomic regions that can be used to identify whether the region is a protein coding region. Motivated by the fact that these regions are information bearing structures we propose signals based on measures motivated by the average mutual information for use in this task. We show that these signals can be used to identify coding and noncoding sequences with high accuracy. We also show that these signals are robust across species, phyla, and kingdom and can, therefore, be used in species agnostic genome annotation algorithms for identifying protein coding regions. These in turn could be used for gene identification.

scholarly journals Evaluating the utility of the female-specific mitochondrialf-orfgene for population genetic, phylogeographic and systematic studies in freshwater mussels (Bivalvia: Unionida)

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5007 ◽  
Author(s):  
Brent M. Robicheau ◽  
Emily E. Chase ◽  
Walter R. Hoeh ◽  
John L. Harris ◽  
Donald T. Stewart ◽  
...  
Keyword(s):  
Population Genetic ◽  
Freshwater Mussels ◽  
Mitochondrial Protein ◽  
Species Level ◽  
Uniparental Inheritance ◽  
Genome Sequences ◽  
Doubly Uniparental Inheritance ◽  
Protein Coding ◽  
Coding Regions ◽  
Female Specific

Freshwater mussels (order: Unionida) represent one of the most critically imperilled groups of animals; consequently, there exists a need to establish a variety of molecular markers for population genetics and systematic studies in this group. Recently, two novel mitochondrial protein-coding genes were described in unionoids with doubly uniparental inheritance of mtDNA. These genes are thef-orfin female-transmitted mtDNA and them-orfin male-transmitted mtDNA. In this study, whole F-type mitochondrial genome sequences of two morphologically similarLampsilisspp. were compared to identify the most divergent protein-coding regions, including thef-orfgene, and evaluate its utility for population genetic and phylogeographic studies in the subfamily Ambleminae. We also tested whether thef-orfgene is phylogenetically informative at the species level. Our preliminary results indicated that thef-orfgene could represent a viable molecular marker for population- and species-level studies in freshwater mussels.

ANGLE: A SEQUENCING ERRORS RESISTANT PROGRAM FOR PREDICTING PROTEIN CODING REGIONS IN UNFINISHED cDNA

2006 ◽  
Vol 04 (03) ◽  
pp. 649-664 ◽  
Author(s):  
KANA SHIMIZU ◽  
JUN ADACHI ◽  
YOICHI MURAOKA
Keyword(s):  
Predictive Accuracy ◽  
Input Sequence ◽  
Limited Information ◽  
Protein Coding ◽  
Coding Sequences ◽  
Structure Information ◽  
Sequencing Errors ◽  
Coding Regions ◽  
Comparable Performance ◽  
Coding Potential

In the process of making full-length cDNA, predicting protein coding regions helps both in the preliminary analysis of genes and in any succeeding process. However, unfinished cDNA contains artifacts including many sequencing errors, which hinder the correct evaluation of coding sequences. Especially, predictions of short sequences are difficult because they provide little information for evaluating coding potential. In this paper, we describe ANGLE, a new program for predicting coding sequences in low quality cDNA. To achieve error-tolerant prediction, ANGLE uses a machine-learning approach, which makes better expression of coding sequence maximizing the use of limited information from input sequences. Our method utilizes not only codon usage, but also protein structure information which is difficult to be used for stochastic model-based algorithms, and optimizes limited information from a short segment when deciding coding potential, with the result that predictive accuracy does not depend on the length of an input sequence. The performance of ANGLE is compared with ESTSCAN on four dataset each of them having a different error rate (one frame-shift error or one substitution error per 200–500 nucleotides) and on one dataset which has no error. ANGLE outperforms ESTSCAN by 9.26% in average Matthews's correlation coefficient on short sequence dataset (< 1000 bases). On long sequence dataset, ANGLE achieves comparable performance.

scholarly journals Complete chloroplast genomes of three important species, Abelmoschus moschatus, A. manihot and A. sagittifolius: Genome structures, mutational hotspots, comparative and phylogenetic analysis in Malvaceae

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0242591
Author(s):  
Jie Li ◽  
Guang-ying Ye ◽  
Hai-lin Liu ◽  
Zai-hua Wang
Keyword(s):  
Phylogenetic Analysis ◽  
Chloroplast Genome ◽  
Intergenic Spacer ◽  
Nucleotide Polymorphisms ◽  
Genome Sequences ◽  
Protein Coding ◽  
Important Species ◽  
Coding Regions ◽  
Chloroplast Genomes ◽  
Mutational Hotspots

Abelmoschus is an economically and phylogenetically valuable genus in the family Malvaceae. Owing to coexistence of wild and cultivated form and interspecific hybridization, this genus is controversial in systematics and taxonomy and requires detailed investigation. Here, we present whole chloroplast genome sequences and annotation of three important species: A. moschatus, A. manihot and A. sagittifolius, and compared with A. esculentus published previously. These chloroplast genome sequences ranged from 163121 bp to 163453 bp in length and contained 132 genes with 87 protein-coding genes, 37 transfer RNA and 8 ribosomal RNA genes. Comparative analyses revealed that amino acid frequency and codon usage had similarity among four species, while the number of repeat sequences in A. esculentus were much lower than other three species. Six categories of simple sequence repeats (SSRs) were detected, but A. moschatus and A. manihot did not contain hexanucleotide SSRs. Single nucleotide polymorphisms (SNPs) of A/T, T/A and C/T were the largest number type, and the ratio of transition to transversion was from 0.37 to 0.55. Abelmoschus species showed relatively independent inverted-repeats (IR) boundary traits with different boundary genes compared with the other related Malvaceae species. The intergenic spacer regions had more polymorphic than protein-coding regions and intronic regions, and thirty mutational hotpots (≥200 bp) were identified in Abelmoschus, such as start-psbA, atpB-rbcL, petD-exon2-rpoA, clpP-intron1 and clpP-exon2.These mutational hotpots could be used as polymorphic markers to resolve taxonomic discrepancies and biogeographical origin in genus Abelmoschus. Moreover, phylogenetic analysis of 33 Malvaceae species indicated that they were well divided into six subfamilies, and genus Abelmoschus was a well-supported clade within genus Hibiscus.

Comparative analysis of the complete chloroplast genome sequences of three Amaranthus species

2019 ◽  
Vol 17 (03) ◽  
pp. 245-254 ◽  
Author(s):  
Su-Young Hong ◽  
Kyeong-Sik Cheon ◽  
Ki-Oug Yoo ◽  
Hyun-Oh Lee ◽  
Manjulatha Mekapogu ◽  
...  
Keyword(s):  
Phylogenetic Analyses ◽  
Sister Group ◽  
Amino Acid Sequences ◽  
Genome Sequences ◽  
Inverted Repeat Region ◽  
Protein Coding ◽  
Amaranthus Hypochondriacus ◽  
Coding Regions ◽  
Homologous Locus ◽  
Cp Genome

AbstractThe complete chloroplast (cp) genome sequences of three Amaranthus species (Amaranthus hypochondriacus, A. cruentus and A. caudatus) were determined by next-generation sequencing. The cp genome sequences of A. hypochondriacus, A. cruentus and A. caudatus were 150,523, 150,757 and 150,523 bp in length, respectively, each containing 84 genes with identical contents and orders. Expansion or contraction of the inverted repeat region was not observed among the three Amaranthus species. The coding regions were highly conserved with 99.3% homology in nucleotide and amino acid sequences. Five genes – matK, accD, ndhJ, ccsA and ndhF – showed relatively high non-synonymous/synonymous values (Ka/Ks &gt; 0.1). Sequence comparison identified two insertion/deletion (InDels) greater than 40 bp in length, and polymerase chain reaction markers that could amplify these InDel regions were applied to diverse Korean Genbank accessions, which could discriminate the three Amaranthus species. Phylogenetic analyses based on 62 protein-coding genes showed that the core Caryophyllales were monophyletic and Amaranthoideae formed a sister group with the Betoideae and Chenopodioideae clade. Comparing each homologous locus among the three Amaranthus species, identified eight regions with high Pi values (&gt;0.03). Seven of these loci, except for rps19-trnH (GUG), were considered to be useful molecular markers for further phylogenetic studies.

scholarly journals RNAsamba: coding potential assessment using ORF and whole transcript sequence information

2019 ◽  
Author(s):  
Antonio P. Camargo ◽  
Vsevolod Sourkov ◽  
Marcelo F. Carazzolle
Keyword(s):  
High Throughput Sequencing ◽  
Model Organisms ◽  
Sequence Information ◽  
Protein Coding ◽  
Rna Molecules ◽  
Coding Regions ◽  
Sequencing Technologies ◽  
Partial Length ◽  
Non Coding Rnas ◽  
Coding Potential

AbstractMotivationThe advent of high-throughput sequencing technologies made it possible to obtain large volumes of genetic information, quickly and inexpensively. Thus, many efforts are devoted to unveil the biological roles of genomic elements, being one of the main tasks the identification of protein-coding and long non-coding RNAs.ResultsWe describe RNAsamba, a tool to predict the coding potential of RNA molecules from sequence information using a deep-learning model that processes both the whole sequence and the ORF to look for patterns that distinguish coding and non-coding RNAs. We evaluated the model in the classification of coding and non-coding transcripts of humans and five other model organisms and show that RNAsamba mostly outperforms other state-of-the-art methods. We also show that RNAsamba can identify coding signals in partial-length ORFs and UTR sequences, evidencing that its model is not dependent on the presence of complete coding regions. RNAsamba is a fast and easy tool that can provide valuable contributions to genome annotation pipelines.Availability and implementationThe source code of RNAsamba is freely available at:https://github.com/apcamargo/RNAsamba.

scholarly journals The open targets post-GWAS analysis pipeline

2020 ◽  
Vol 36 (9) ◽  
pp. 2936-2937 ◽  
Author(s):  
Gareth Peat ◽  
William Jones ◽  
Michael Nuhn ◽  
José Carlos Marugán ◽  
William Newell ◽  
...  
Keyword(s):  
Drug Targets ◽  
Gene Expression Regulation ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Protein Coding ◽  
Data Resource ◽  
Coding Regions ◽  
Genome Wide ◽  
Causal Genes ◽  
Interactive Data

Abstract Motivation Genome-wide association studies (GWAS) are a powerful method to detect even weak associations between variants and phenotypes; however, many of the identified associated variants are in non-coding regions, and presumably influence gene expression regulation. Identifying potential drug targets, i.e. causal protein-coding genes, therefore, requires crossing the genetics results with functional data. Results We present a novel data integration pipeline that analyses GWAS results in the light of experimental epigenetic and cis-regulatory datasets, such as ChIP-Seq, Promoter-Capture Hi-C or eQTL, and presents them in a single report, which can be used for inferring likely causal genes. This pipeline was then fed into an interactive data resource. Availability and implementation The analysis code is available at www.github.com/Ensembl/postgap and the interactive data browser at postgwas.opentargets.io.

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