"Генетика", 2025 г., № 10

Статьи, опубликованные только в Russian J. of Genetics, № 10 – 2025 г.

A Multifaceted Approach to Drosophila Eye and Head Development: Genetic, Transcriptomic, and Phenotypic Analyses

M. Gözüböyük^1,2, G. İpek¹, E. D. Özsoy¹

¹ Department of Biology, Functional and Evolutionary Genetics Laboratory, Hacettepe University, Faculty of Science, Ankara, Turkey
² Hacettepe University the Institute for Graduate Studies of Science and Engineering, Ankara, Turkey
Correspondence to E. D. Özsoy

Head and eye development in Drosophila melanogaster involves intricate genetic regulation coordinated across spatial and temporal scales. In this study, we employed an integrative framework combining genome-wide association studies (GWAS), single-cell RNA sequencing (scRNA seq), and morphological analysis to investigate the genetic basis of natural variation in eye and head morphology. GWAS identified 230 single-nucleotide polymorphisms (SNP) associated with eye area and head width variation, including bru1, a gene not previously linked to eye development. To explore expression profiles of candidate genes, we analyzed publicly available single-cell transcriptomic data (GSE235110) from the larval eye-antennal disc. Known regulators such as tkv, Svil, CG42747, and CG42389 were enriched in photoreceptor precursor cells. In contrast, bru1 exhibited no detectable expression at the larval stage, suggesting a temporally restricted role, possibly during pupal remodeling. Morphological characterization of bru1 confirmed its contribution to eye area, providing functional validation for its developmental relevance. These findings demonstrate the power of integrating genomic, transcriptomic, and phenotypic analyses to uncover novel regulators of organogenesis. This approach enhances our understanding of genetic architecture underlying complex morphological traits such as head and eye development in Drosophila melanogaster.

DOI: 10.1134/S1022795425700760
К статье на сайте SpringerLink

Association of SDR16C5, PLAG1, and ADCY4 Gene Polymorphisms with Body Size Traits in Bamei Pigs

T. Tian¹, Q. R. Jia¹, L. Wang¹, C. M. Ma², J. T. Luo¹, J. B. Zhang¹, X. Luo¹, G. F. Wu¹

¹ Plateau Livestock Genetic Resources Protection and Innovative Utilization Key Laboratory of Qinghai Province, Academy of Animal Science and Veterinary, Qinghai University, 810016, Xining, China
² Qinghai Province Huzhu County Bamei Pig Breeding Farm, Haidong, Qinghai Province, China
Correspondence to G. F. Wu

Body size traits are pivotal indicators in pig breeding, directly influencing meat production performance and breeding efficiency. This study investigated the polymorphisms of SDR16C5, PLAG1, and ADCY4 genes in Qinghai Bamei pigs. Sixteen SNP loci were identified through Sanger sequencing, followed by population genetic parameter analysis and association studies. Results demonstrated that the SDR16C5 g.1570 G>C and ADCY4 g.519 T>C loci exhibited low polymorphism (PIC < 0.25), with the ADCY4 g.519 T>C locus showing significant deviation from Hardy–Weinberg equilibrium (p < 0.05). The remaining loci displayed moderate polymorphism (0.25 < PIC < 0.5) and conformed to Hardy–Weinberg equilibrium (p > 0.05). Association analysis revealed that PLAG1 gene loci g.44162 G>C and g.44471 A>G significantly affected multiple phenotypes. SDR16C5 gene g.1647 A>G locus showed that individuals with the GG genotype had significantly higher body weight than other genotypes (p < 0.05). The ADCY4 g.306 C>G and g.418 C>T loci were significantly associated with body length, height, and chest circumference (p < 0.05). Haplotype analysis identified superior body size performance in individuals carrying the SDR16C5-PLAG1 combined haplotypes (CACAG and GA/GG) and the ADCY4 CCTCCC haplotype. These findings validate the polymorphisms of SDR16C5, PLAG1, and ADCY4 genes as potential molecular markers for Bamei pig breeding, providing a theoretical foundation for functional gene exploration and innovative utilization of germplasm resources.

DOI: 10.1134/S1022795425700802
К статье на сайте SpringerLink

Genotype and Allele Frequencies of AKR1C3 rs3763676 and rs12529 Variations in a Turkish Population: Novel PCR-RFLP Assays

M. A. Yıldırım¹, S. Özkan-Kotiloğlu^1,2, D. Kaya-Akyüzlü¹

¹ Institute of Forensic Sciences, Ankara University, Ankara, Türkiye
² Department of Molecular Biology and Genetics, Faculty of Science and Art, Kırşehir Ahi Evran University, Kırşehir, Türkiye
Correspondence to S. Özkan-Kotiloğlu

The impact of genetic mechanisms should be clearly understood before clinical practice of drugs since they could cause variations in biotransformation, clearance, and thus, the optimal dose of drugs. Naltrexone, an opioid antagonist metabolized by AKR isoenzymes, is used to manage opioid and alcohol use disorders. Although its high efficacy, adherence to treatment with naltrexone was different between patients due to most likely patients’ genetic information. The aim of this study is to develop novel PCR-RFLP assays to genotype AKR1C3 rs3763676 and rs12529 polymorphisms and to find out the allele and genotype frequencies of these polymorphisms in a Turkish population. Unrelated volunteers (n = 222) between 18–65 years were analyzed to determine genotype and allele frequencies of AKR1C3 rs3763676 and rs12529 in a Turkish population with novel PCR-RFLP assays. The minor allele frequencies (MAF) of AKR1C3 rs3763676 and rs12529 polymorphisms were 24.0% and 56.0%, respectively. MAF of AKR1C3 rs12529 in Turkish population was higher than those of in African and in Taiwanese, respectively. The frequency of T (variant) allele of AKR1C3 rs3763676 was higher in Korean as compared to Turkish. AKR1C3 rs3763676 and rs12529 allele variants were not in linkage disequilibrium (D = 0.57, R² = 0.08). PCR-RFLP assays developed in the study and the documented allele frequencies will be useful for direct detection of AKR1C3 rs3763676 and rs12529 variations in pharmacogenetic studies of naltrexone pharmacology.

DOI: 10.1134/S1022795425700826
К статье на сайте SpringerLink

Complete Mitochondrial Genome of Alophoixus pallidus (Passeriformes: Pycnonotidae)

H. Gao¹, Z. C. Yao², Y. Y. Zhao¹, M. H. Chen¹, Z. Z. Li³, Y. G. Wen¹, X. G. Zhou¹, Y. J. Huang^1,4

¹ Institute of Eco-Environmental Research, Guangxi Academy of Sciences, 530007, Nanning, Guangxi, China
² Zibo Forestry Protection and Development Center, 255000, Zibo, China
³ China Conservation and Research Centre for the Giant Panda, 610051, Chengdu, China
⁴ Guangxi Key Laboratory of Forest Ecology and Conservation, 530004, Nanning, China
Correspondence to Y. J. Huang

Alophoixus pallidus is a medium passerine bird with large range across southeast of Asian. The complete mitogenome of this species was sequenced using an IlluminaNovaseq platform. It is 17953 bp in length and consists of 13 protein-coding genes (PCGs), 22 tRNA genes, two rRNA genes (12S rRNA and 16S rRNA) and a control region (CR). The overall nucleotide composition of the mitogenome is A (30.37%), T (24.25%), G (14.31%), and C (31.06%). We reconstructed a phylogenetic tree based on the mitogenome sequences of eight species from family Pycnonotidae, as well as one outgroup. Phylogenetic analysis indicated that A. pallidus is well clustered with the sister taxon of Ixosmc clellandii and Hypsipetes amaurotis. The new mitogenomedata would provide useful information for evolutionary research on A. pallidus and the family Pycnonotidae.

DOI: 10.1134/S102279542570084X
К статье на сайте SpringerLink