Protein-coding Genes Research Articles

The genome sequence of the New Zealand flax mealybug, Trionymus diminutus (previously known as Balanococcus diminutus) (Leonardi, 1918)

We present a genome assembly from an individual female Trionymus diminutus (formerly Balanococcus diminutus) (New Zealand flax mealybug; Arthropoda; Insecta; Hemiptera; Pseudococcidae). The genome sequence is 313.1 megabases in span. Most of the assembly is scaffolded into 5 chromosomal pseudomolecules. The mitochondrial genome has also been assembled and is 16.68 kilobases in length. Gene annotation of this assembly on Ensembl identified 12,939 protein coding genes.

The genome sequence of the Ruddy Streak moth, Tachystola acroxantha (Meyrick, 1885)

We present a genome assembly from a female Tachystola acroxantha (the Ruddy Streak; Arthropoda; Insecta; Lepidoptera; Oecophoridae). The genome sequence is 388.1 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z and W sex chromosomes. The mitochondrial genome has also been assembled and is 15.45 kilobases in length. Gene annotation of this assembly on Ensembl identified 12,656 protein coding genes.

The genome sequence of the Wavy-barred Sable moth, Pyrausta nigrata (Scopoli, 1763)

We present a genome assembly from an individual male Pyrausta nigrata (the Wavy-barred Sable moth; Arthropoda; Insecta; Lepidoptera; Crambidae). The genome sequence is 538.9 megabases in span. Most of the assembly is scaffolded into 30 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.34 kilobases in length. Gene annotation of this assembly on Ensembl identified 12,251 protein coding genes.

Genome assembly of the rare and endangered Grantham’s camellia, Camellia granthamiana

Grantham’s camellia (Camellia granthamiana Sealy) is a rare and endangered tea species discovered in Hong Kong in 1955 and endemic to southern China. Despite its high conservation value, the genomic resources of C. granthamiana are limited. Here, we present a chromosome-scale draft genome of the tetraploid C. granthamiana (2n = 4x = 60), combining PacBio long-read sequencing and Omni-C data. The assembled genome size is ∼2.4 Gb, with most sequences anchored to 15 pseudochromosomes resembling a monoploid genome. The genome has high contiguity, with a scaffold N50 of 139.7 Mb, and high completeness (97.8% BUSCO score). Our gene model prediction resulted in 68,032 protein-coding genes (BUSCO score of 90.9%). We annotated 1.65 Gb of repeat content (68.48% of the genome). Our Grantham’s camellia genome assembly is a valuable resource for investigating Grantham’s camellia’s biology, ecology, and phylogenomic relationships with other Camellia species, and provides a foundation for further conservation measures.

PAQR4 oncogene: a novel target for cancer therapy.

Despite decades of basic and clinical research and trials of promising new therapies, cancer remains a major cause of morbidity and mortality due to the emergence of drug resistance to anticancer drugs. These resistance events have a very well-understood underlying mechanism, and their therapeutic relevance has long been recognized. Thus, drug resistance continues to be a major obstacle to providing cancer patients with the intended "cure". PAQR4 (Progestin and AdipoQ Receptor Family Member 4) gene is a recently identified novel protein-coding gene associated with various human cancers and acts through different signaling pathways. PAQR4 has a significant influence on multiple proteins that may regulate various gene expressions and may develop chemoresistance. This review discusses the roles of PAQR4 in tumor immunity, carcinogenesis, and chemoresistance. This paper is the first review, discussing PAQR4 in the pathogenesis of cancer. The review further explores the PAQR4 as a potential target in various malignancies.

Genomics and transcriptomics reveal β-carotene synthesis mechanism in Dunaliella salina

Dunaliella salina is by far the most salt-tolerant organism and contains many active substances, including β-carotene, glycerol, proteins, and vitamins, using in the production of dried biomass or cell extracts for the biofuels, pharmaceutical formulations, food additives, and fine chemicals, especially β-carotene. We report a high-quality genome sequence of D. Salina FACHB435, which has a 472 Mb genome size, with a contig N50 of 458 Kb. A total of 30,752 protein-coding genes were predicted. The annotation results evaluated by BUSCO was shown that completeness was 91.0% and replication was 53.1%. The fragments were 6.3% and the deletions were 2.6%. Phylogenomic and comparative genomic analyses revealed that A. thaliana diverged from Volvocales about 448 million years ago, then Volvocales C. eustigma, D. salina, and other species diverged about 250 million years ago. High light could promote the accumulation of β-carotene in D. salina at a 13 d stage of culture. The enrichment of DEGs in KEGG, it notes that the predicted up-regulated genes of carotenoid metabolic pathway include DsCrtB, DsPDS, DsZ-ISO, DsZDS, DsCRTISO, DsLUT5, DsCrtL-B, and DsCCD8, while the predicted down-regulated genes include DsCrtF, and DsLUT1. The four genes that were both up-regulated and down-regulated were DsZEP, DsCrtR-b, DsCruA/P and DsCrtZ 4. The research results can provide scientific basis for the industrialization practice of D. salina.

Abstract PR009: Exploring the functional consequences of APOBEC3-induced non-coding hotspot mutations in bladder cancer using massively parallel reporter assays and CRISPR-mediated base editing

Abstract Cancer research has traditionally focused on protein-coding genes, but approximately 98% of the human genome is non-coding, comprising gene regulatory elements such as enhancers, silencers, and promoters. Mutations within these regions can foster tumorigenesis by modulating the expression of oncogenes. Recent whole-genome sequencing studies have revealed several recurrently mutated non-coding genomic regions, including in bladder cancer, but their role in tumorigenesis remains unknown. In this study, we delved into whole-genome sequencing data from the bladder cancer TCGA cohort and an independent set of bladder tumors, uncovering hundreds of recurrent mutations. Mutational signature analysis identified over 65% of these mutations as APOBEC3-induced. We substantiated the involvement of APOBEC3 enzymes by using conventional deamination assays and novel approach dubbed as APOBEC3-mediated mutation capture assay. Predominantly, these mutations occurred in the hairpin loop, a favored motif for APOBEC3 enzymes. To systematically assess which of the mutations are functional and prioritize them for biological characterization, we developed Massively Parallel Reporter Assays (MPRA). Two types of MPRA libraries were constructed, one for evaluating promoter activity and the other for assessing enhancer activity of the mutations. Each library construction entailed 36,000 oligonucleotides, comprehensively representing all mutation hotspots and their corresponding wild-type alleles. The application of MPRA resulted in the identification of a substantial number of functionally relevant mutations. Zooming in on the top 20 genomic regions, we employed CRISPR-based approaches to pinpoint target genes and elucidate their functional consequences. Most of these regions co-localized with enhancers, as determined by analysis of ATAC-seq, ChIP-seq, and Hi-C data from bladder cancer cell lines. Perturbation of hotspots regions resulted in dysregulation of multiple genes. The co-regulation patterns of genes were further supported by strong correlation of their mRNA expression in RNA-seq datasets (TCGA, SRA, etc.). Notable examples included twin hotspot mutations upstream of the LEPROTL1 gene, elevating the expression of LEPROTL1, DCTN6 and SARAF, resulting in aggressive tumor growth in in vitro functional experiments. These three genes emerged as novel oncogenes in cancer. Another functional hotspot influenced the expression of two known long non-coding RNAs, NEAT1 and MALAT1, previously characterized as cancer genes. Additionally, some recurrently mutated regions or their target genes were associated with worse overall survival in the TCGA cohort. In conclusion, our findings propose that non-coding mutations likely drive tumorigenesis, contributing to tumor heterogeneity. Employing a combination of functional, multi-omics, and in vivo approaches, we aim to comprehensively characterize the role of hotspot non-coding mutations in bladder cancer and assess their clinical significance. Citation Format: Rouf Banday, Bilal Lone, Kelly Butler, Dhanusha Yesudhas, Alexandra Dobbins, Arup Chakraborty. Exploring the functional consequences of APOBEC3-induced non-coding hotspot mutations in bladder cancer using massively parallel reporter assays and CRISPR-mediated base editing [abstract]. In: Proceedings of the AACR Special Conference on Bladder Cancer: Transforming the Field; 2024 May 17-20; Charlotte, NC. Philadelphia (PA): AACR; Clin Cancer Res 2024;30(10_Suppl):Abstract nr PR009.

Genome-wide association analysis explores the genetic loci of amino acid content in duck’s breast muscle

BackgroundAmino acids are the basic components of protein and an important index to evaluate meat quality. With the rapid development of genomics, candidate regions and genes affecting amino acid content in livestock and poultry have been gradually revealed. Hence, genome-wide association study (GWAS) can be used to screen candidate loci associated with amino acid content in duck meat.ResultIn the current study, the content of 16 amino acids was detected in 358 duck breast muscles. The proportion of Glu to the total amino acid content was relatively high, and the proportion was 0.14. However, the proportion of Met content was relatively low, at just 0.03. By comparative analysis, significant differences were found between males and females in 3 amino acids, including Ser, Met, and Phe. In addition, 12 SNPs were significantly correlated with Pro content by GWAS analysis, and these SNPs were annotated by 7 protein-coding genes; 8 significant SNPs were associated with Tyr content, and these SNPs were annotated by 6 protein-coding genes. At the same time, linkage disequilibrium (LD) analysis was performed on these regions with significant signals. The results showed that three SNPs in the 55–56 Mbp region of chromosome 3 were highly correlated with the leader SNP (chr3:55526954) that affected Pro content (r2 > 0.6). Similarly, LD analysis showed that there were three SNPs in the 21.2–21.6 Mbp region of chromosome 13, which were highly correlated with leader SNP (chr13:21421661) (r2 > 0.6). Moreover, Through functional enrichment analysis of all candidate genes. The results of GO enrichment analysis showed that several significant GO items were associated with amino acid transport function, including amino acid transmembrane transport and glutamine transport. The results further indicate that these candidate genes are closely associated with amino acid transport. Among them, key candidate genes include SLC38A1. For KEGG enrichment analysis, CACNA2D3 and CACNA1D genes were covered by significant pathways.ConclusionIn this study, GWAS analysis found a total of 28 significant SNPs affecting amino acid content. Through gene annotation, a total of 20 candidate genes were screened. In addition, Through LD analysis and enrichment analysis, we considered that SERAC1, CACNA2D3 and SLC38A1 genes are important candidate genes affecting amino acid content in duck breast muscle.

A fully haplotype-resolved and nearly gap-free genome assembly of wheat stripe rust fungus

Stripe rust fungus Puccinia striiformis f. sp. tritici (Pst) is a destructive pathogen of wheat worldwide. Pst has a macrocyclic-heteroecious lifecycle, in which one-celled urediniospores are dikaryotic, each nucleus containing one haploid genome. We successfully generated the first fully haplotype-resolved and nearly gap-free chromosome-scale genome assembly of Pst by combining PacBio HiFi sequencing and trio-binning strategy. The genome size of the two haploid assemblies was 75.59 Mb and 75.91 Mb with contig N50 of 4.17 Mb and 4.60 Mb, and both had 18 pseudochromosomes. The high consensus quality values of 55.57 and 59.02 for both haplotypes confirmed the correctness of the assembly. Of the total 18 chromosomes, 15 and 16 were gapless while there were only five and two gaps for the remaining chromosomes of the two haplotypes, respectively. In total, 15,046 and 15,050 protein-coding genes were predicted for the two haplotypes, and the complete BUSCO scores achieved 97.7% and 97.9%, respectively. The genome will lay the foundation for further research on genetic variations and the evolution of rust fungi.

Age-related and species-specific methylation changes in the protein-coding marmoset sperm epigenome.

The sperm epigenome is thought to affect the developmental programming of the resulting embryo, influencing health and disease in later life. Age-related methylation changes in the sperm of old fathers may mediate the increased risks for reproductive and offspring medical problems. The impact of paternal age on sperm methylation has been extensively studied in humans and, to a lesser extent, in rodents and cattle. Here, we performed a comparative analysis of paternal age effects on protein-coding genes in the human and marmoset sperm methylomes. The marmoset has gained growing importance as a non-human primate model of aging and age-related diseases. Using reduced representation bisulfite sequencing, we identified age-related differentially methylated transcription start site (ageTSS) regions in 204 marmoset and 27 human genes. The direction of methylation changes was the opposite, increasing with age in marmosets and decreasing in humans. None of the identified ageTSS was differentially methylated in both species. Although the average methylation levels of all TSS regions were highly correlated between marmosets and humans, with the majority of TSS being hypomethylated in sperm, more than 300 protein-coding genes were endowed with species-specifically (hypo)methylated TSS. Several genes of the glycosphingolipid (GSL) biosynthesis pathway, which plays a role in embryonic stem cell differentiation and regulation of development, were hypomethylated (<5%) in human and fully methylated (>95%) in marmoset sperm. The expression levels and patterns of defined sets of GSL genes differed considerably between human and marmoset pre-implantation embryo stages and blastocyst tissues, respectively.

Physiological Consequences of Nonsense-Mediated Decay and Its Role in Adaptive Responses

The evolutionarily conserved nonsense-mediated mRNA decay (NMD) pathway is a quality control mechanism that degrades aberrant mRNA containing one or more premature termination codons (PTCs). Recent discoveries indicate that NMD also differentially regulates mRNA from wild-type protein-coding genes despite lacking PTCs. Together with studies showing that NMD is involved in development and adaptive responses that influence health and longevity, these findings point to an expanded role of NMD that adds a new layer of complexity in the post-transcriptional regulation of gene expression. However, the extent of its control, whether different types of NMD play different roles, and the resulting physiological outcomes remain unclear and need further elucidation. Here, we review different branches of NMD and what is known of the physiological outcomes associated with this type of regulation. We identify significant gaps in the understanding of this process and the utility of genetic tools in accelerating progress in this area.

The genome sequence of the Barred Sallow moth, Tiliacea aurago ([Denis &amp; Schiffermüller], 1775)

We present a genome assembly from an individual male Tiliacea aurago (the Barred Sallow; Arthropoda; Insecta; Lepidoptera; Noctuidae). The genome sequence is 798.0 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.41 kilobases in length. Gene annotation of this assembly on Ensembl identified 19,865 protein coding genes.

The genome sequence of the northern blowfly, Protophormia terraenovae (Robineau-Desvoidy, 1830)

We present a genome assembly from an individual male Protophormia terraenovae (the Northern Blowfly; Arthropoda; Insecta; Diptera; Calliphoridae). The genome sequence is 783.7 megabases in span. Most of the assembly is scaffolded into 7 chromosomal pseudomolecules, including the X and Y sex chromosomes. The mitochondrial genome has also been assembled and is 15.75 kilobases in length. Gene annotation of this assembly on Ensembl identified 12,692 protein coding genes.

The genome sequence of the Green Pug moth, Pasiphila rectangulata (Linnaeus, 1758)

We present a genome assembly from an individual male Pasiphila rectangulata (the Green Pug; Arthropoda; Insecta; Lepidoptera; Geometridae). The genome sequence is 582.5 megabases in span. Most of the assembly is scaffolded into 30 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.74 kilobases in length. Gene annotation of this assembly on Ensembl identified 17,153 protein coding genes.

The genome sequence of the Rusty-dot Pearl moth, Udea ferrugalis (Hübner, 1796)

We present a genome assembly from an individual male Udea ferrugalis (the Rusty-dot Pearl moth; Arthropoda; Insecta; Lepidoptera; Crambidae). The genome sequence is 495.6 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.39 kilobases in length. Gene annotation of this assembly on Ensembl identified 18,035 protein coding genes.

The genome sequence of the Pearl-bordered Fritillary, Boloria euphrosyne (Linnaeus, 1758)

We present a genome assembly from an individual male Boloria euphrosyne (the Pearl-bordered Fritillary; Arthropoda; Insecta; Lepidoptera; Nymphalidae). The genome sequence is 400.4 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.17 kilobases in length. Gene annotation of this assembly on Ensembl identified 19,138 protein coding genes.

The genome sequence of the Fig-leaf Skeletoniser, Choreutis nemorana (Hübner, [1799

We present a genome assembly from an individual male Choreutis nemorana (the Fig-leaf Skeletoniser; Arthropoda; Insecta; Lepidoptera; Choreutidae). The genome sequence is 300.2 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.52 kilobases in length. Gene annotation of this assembly on Ensembl identified 15,351 protein coding genes.

The genome sequence of a tachinid fly, Phasia obesa (Fabricius, 1798)

We present a genome assembly from an individual female Phasia obesa (tachinid fly; Arthropoda; Insecta; Diptera; Tachinidae). The genome sequence is 876.8 megabases in span. Most of the assembly is scaffolded into 6 chromosomal pseudomolecules, including the X sex chromosome. The mitochondrial genome has also been assembled and is 17.46 kilobases in length. Gene annotation of this assembly on Ensembl identified 30,251 protein coding genes.

The genome sequence of the Sallow moth, Xanthia icteritia (Hufnagel, 1766)

We present a genome assembly from an individual male Xanthia icteritia (the Sallow moth; Arthropoda; Insecta; Lepidoptera; Noctuidae). The genome sequence is 664.6 megabases in span. Most of the assembly is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. The mitochondrial genome has also been assembled and is 15.58 kilobases in length. Gene annotation of this assembly on Ensembl identified 18,792 protein coding genes.

Genomic analysis and phylogenetic characterization of Himalayan snow trout, Schizothorax esocinus based on mitochondrial protein-coding genes.

Mitochondrial DNA (mtDNA) has become a significant tool for exploring genetic diversity and delineating evolutionary links across diverse taxa. Within the group of cold-water fish species that are native to the Indian Himalayan region, Schizothorax esocinus holds particular importance due to its ecological significance and is potentially vulnerable to environmental changes. This research aims to clarify the phylogenetic relationships within the Schizothorax genus by utilizing mitochondrial protein-coding genes. Standard protocols were followed for the isolation of DNA from S. esocinus. For the amplification of mtDNA, overlapping primers were used, and then subsequent sequencing was performed. The genetic features were investigated by the application of bioinformatic approaches. These approaches covered the evaluation of nucleotide composition, codon usage, selective pressure using nonsynonymous substitution /synonymous substitution (Ka/Ks) ratios, and phylogenetic analysis. The study specifically examined the 13 protein-coding genes of Schizothorax species which belongs to the Schizothoracinae subfamily. Nucleotide composition analysis showed a bias towards A + T content, consistent with other cyprinid fish species, suggesting evolutionary conservation. Relative Synonymous Codon Usage highlighted leucine as the most frequent (5.18%) and cysteine as the least frequent (0.78%) codon. The positive AT-skew and the predominantly negative GC-skew indicated the abundance of A and C. Comparative analysis revealed significant conservation of amino acids in multiple genes. The majority of amino acids were hydrophobic rather than polar. The purifying selection was revealed by the genetic distance and Ka/Ks ratios. Phylogenetic study revealed a significant genetic divergence between S. esocinus and other Schizothorax species with interspecific K2P distances ranging from 0.00 to 8.87%, with an average of 5.76%. The present study provides significant contributions to the understanding of mitochondrial genome diversity and genetic evolution mechanisms in Schizothoracinae, hence offering vital insights for the development of conservation initiatives aimed at protecting freshwater fish species.