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Genes

Genes is a peer-reviewed, open access journal of genetics and genomics published monthly online by MDPI.
The Spanish Society for Nitrogen Fixation (SEFIN) is affiliated with Genes and its members receive discounts on the article processing charges.
Indexed in PubMed | Quartile Ranking JCR - Q2 (Genetics and Heredity)

All Articles (14,121)

Background/Objectives: Short Interspersed Nuclear Elements (SINEs) constitute major components of mammalian genomes, but the structural diversity and evolutionary dynamics of their characteristic 3′ poly(A) tails have not been fully characterized. Methods: Based on the custom-developed SINEtail-scan pipeline, 1,018,332 SINEs with tail in the pig reference genome (Sus scrofa 11.1) were identified and systematically classified, revealing the diversity of tail sequence structures. According to nucleotide composition and microsatellite repeat patterns, the tail sequences were divided into 16 different structural types. Results: A-rich sequences predominated (66.3%), while non-A-rich tails exhibited characteristic architectures including AT-format, AC-format, and AG-format repeats. Temporal analysis spanning 85 million years demonstrated progressive tail modification, with A-rich proportions declining from 84.2% in recent insertions to 31.9% in ancient elements, accompanied by accumulation of complex non-A-rich structures. Comparative genomic analysis across 10 pig genome assemblies identified 308 SINE tail insertions within protein-coding sequences, of which 45 (14.6%) exhibited inter-individual structural polymorphism. Detailed investigation of a polymorphic insertion in the VWA8 gene revealed a 16-bp tail variant causing a frameshift mutation and C-terminal protein structure divergence. Conclusions: These findings establish SINE tail sequences as dynamic evolutionary substrates undergoing continuous modification through slippage-mediated mechanisms, with implications for genome evolution, population genetics, and gene function modulation in mammals.

7 February 2026

Schematic overview of the SINEtail-scan pipeline and workflow. (Top panel) Overall analytical framework. Input data (left, blue panel) comprised the pig reference genome (S. scrofa 11.1), SINE subfamily consensus sequences (SINEA1–2, SINEB1–2, SINEC1) in FASTA format, genomic coordinates of SINE insertions extracted via RepeatMasker, and a curated library of cutoff sequences marking SINE body-tail boundaries. Processing steps (middle, yellow panel) involved two sequential stages: (1) RepeatMasker annotation to identify all SINE insertions genome-wide, generating a BED file of SINE coordinates and divergence metrics; (2) custom Python script (SINE_tail_pattern.py) to extract tail sequences and classify structural patterns based on nucleotide composition and repeat architecture. Output files (right, pink panel) included transposable element annotations (.out format), SINE divergence data for age estimation, and tail structure classifications categorizing each insertion by tail type. (Bottom panel) Detailed classification algorithm with six sequential steps. Step 01: Identification of the cutoff sequence demarcating SINE body (black) from tail region (red). Step 02: Pattern-matching algorithm scanning each SINE insertion against the cutoff sequence library. Step 03: Conditional tail extraction—if cutoff sequence matched (top branch), downstream sequence extracted and classified; if unmatched (bottom branch), the terminal 30 bp of full-length sequence designated as tail. Step 04: Tail structure determination via pattern-recognition algorithm identifying nucleotide composition (A-rich, AT-format, AC-format, AG-format) and tail type. Step 05: Integration of tail classifications with divergence calculations and molecular age estimates (million years, MY) for temporal analysis. Step 06: Final categorization into 16 structural types and other rare structural variants.

Background: The subtribe Pleurothallidinae is a diverse group within Orchidaceae with a complex taxonomic history. Comparative plastome analysis can provide insights into genome evolution and facilitate phylogenetic reconstruction. Methods: Here we analyzed 25 complete chloroplast genomes representing 15 genera, including 14 newly assembled genomes, to investigate plastome evolution in this subtribe. Results: All genomes exhibited the typical quadripartite structure (148, 246–158, 138 bp) with conserved gene content (128–134 genes). While most protein-coding genes were under purifying selection, we detected signatures of positive selection in specific lineages. Notably, ndhF in Lepanthes tachirensis showed a markedly elevated Ka/Ks ratio (3.65), which may be associated with adaptation to an extensive distributional range. ENC-plot analysis indicated that natural selection, rather than mutation pressure alone, shapes codon usage bias, with patterns varying among species from different geographic regions. Nucleotide diversity analysis identified eight hypervariable intergenic regions (psbK-psbI, atpI-rps2, petN-psbM, psbB-psbT, petD-rpoA, rpoA-rps11, rps3-rpl22, ccsA-ndhD) suitable as candidate molecular markers. Phylogenetic analysis confirmed that Lepanthes and Pleurothallis are non-monophyletic as traditionally defined. Conclusions: These findings expand plastome resources for Pleurothallidinae, reveal lineage-specific patterns of selection, and provide molecular markers for future taxonomic and evolutionary studies.

7 February 2026

Circular map of the Dracula erythrochaete chloroplast genome. Species name, genome length are represented at the center of the plot. The inner circle shows the four regions: the small single-copy (SSC), large single-copy (LSC), and inverted repeat (IRA and IRB) regions. Genes on the outside are transcribed clockwise; those on the inside are transcribed counterclockwise. Different colors are used to distinguish between genes belonging to specific functional categories, and their legend is shown in the lower left corner of the bottom panel. The gray inner circle represents AT content; darker gray represents GC content.

Background: This study determined the complete mitochondrial genome sequence of the marine crab to elucidate its phylogenetic position within Heterotremata, specifically the superfamily Goneplacoidea, and to explore the biological significance of its genetic composition and arrangement. Methods: The complete mitochondrial genome of Eucrate alcocki was sequenced using the Illumina platform and de novo assembled. Genome annotation and structural analysis were performed using MITOS2 and PhyloSuite. Phylogenetic relationships were reconstructed based on 13 protein-coding genes from 59 heterotrematan species using both Bayesian inference and maximum likelihood methods. Results: The mitochondrial genome of E. alcocki is a circular molecule of 15,720 bp with 72.2% AT content and a unique F-H-ND5 → H-F-ND5 gene rearrangement. Phylogenetic analysis robustly places E. alcocki in a distinct clade with Entricoplax vestita (BI = 1.00, ML = 100%), separate from the congeneric species Eucrate crenata and E. solaris, suggesting potential paraphyly within the genus Eucrate. Conclusions: This discovery provides preliminary evidence suggesting existing crab classification systems and molecular evidence for further understanding the evolutionary history of crabs. Our findings demonstrate that genomic characteristics hold significant value in revealing evolutionary pathways and can serve as a foundation for more comprehensive taxonomic and evolutionary research in the future.

7 February 2026

Complete mitogenome map of E. alcocki.

Background/Objectives: The elongated egg is a morphological mutant of silkworm (Bombyx mori) eggs, yet the biochemical processes and molecular mechanisms underlying this trait remain unclear. Methods: In this study, we performed transcriptome sequencing on the ovaries of female pupae from the Nistari silkworm strain (comparing normal and elongated eggs) during the first three days post-pupation using high-throughput sequencing. Results: A total of 153.56 Gb of filtered data was obtained, identifying 23,366 genes and 35,798 mRNAs. Comparative analysis across three control groups revealed 374 differentially expressed genes (DEGs), with 131 upregulated and 243 downregulated genes in the elongated egg group. Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses indicated that these DEGs were primarily associated with protein hydrolysis, DNA metabolic processes, and euchromatin/heterochromatin organization. Trend expression analysis revealed that transcriptional activity in elongated eggs was significantly higher than in normal eggs, particularly on day 3 of the pupal stage. Conclusions: Weighted gene co-expression network analysis (WGCNA) classified gene expression patterns into twelve modules, with two modules showing specificity. Thirteen hub genes were identified, which are functionally linked to translation initiation, protein density regulation, post-translational modification, and protein turnover. These findings provide foundational insights into the molecular mechanisms driving the formation of the elongated egg in silkworms.

6 February 2026

The Pearson correlation analysis of qRT-PCR results. The RNA sequencing data for the 20 selected DEGs among the samples are presented. Each point represents the fold change in expression level between the C1–C3 groups and the E1–E3 groups. Fold-change values were log10-transformed.

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Genes - ISSN 2073-4425