"Генетика", 2025 г., № 9

Статьи, опубликованные только в Russian J. of Genetics, № 9 – 2025 г.

Antioxidant Enzyme Gene Expression in Barley under Drought Stress

A. Saidi¹, A. Barati², H. Ghazvini², Z. Hajibarat¹

¹ Department of Cell and Molecular Biology, Faculty of Life Sciences and Biotechnology, Shahid Beheshti University, Tehran, Iran
² Seed and Plant Improvement Institute, Agricultural Research, Education and Extension Organization (AREEO), Karaj, Iran
Correspondence to A. Saidi

Reactive oxygen species (ROS), redox molecules primarily generated in organisms, are particularly significant in photosynthetic cells. Here, ROS production must be tightly controlled to avoid detrimental side effects on cellular functions. Plants employ a suite of ROS-scavenging enzymes, including ascorbate peroxidase (APX), catalase (CAT), dehydroascorbate reductase (DHAR), and peroxiredoxin (PRX), to combat oxidative stress. These antioxidant enzymes are strategically localized within different compartments of plant cells, working in concert to neutralize reactive oxygen species (ROS). CAT and APX play a crucial role in detoxifying hydrogen peroxide (H₂O₂). While CAT directly breaks down H₂O₂, APX requires ascorbic acid (AsA) as a cofactor for its activity. Peroxiredoxin (PRX) employs a distinct mechanism, utilizing thiol-mediated pathways independent of ascorbate to reduce both H₂O₂ and organic hydroperoxides. In this study, the analysis of enzymes activities was performed on five contrasting Iranian barley cultivars under drought stress at reproductive stage. Gene expression analysis revealed that seven antioxidant genes were accumulated in the flag leaf, awn, peduncle, and penultimate tissues at reproductive stage after being subjected to drought stress. Furthermore, most of antioxidant gene expression were up-regulated in response to drought stress in the four tissues. Our results revealed that the genotypes G1, G3, and G5 responded appropriately to drought stress at seed filling stage. Among the studied tissues, penultimate showed the most up-regulation of antioxidant gene in response to stress. To elucidate the mechanisms of drought tolerance in barley during grain filling, we conducted a comprehensive analysis of gene expression related to key antioxidant enzymes in the ASA-GSH cycle. By comparing these expressions across the flag leaves, peduncle, penultimate, and awn, we obtained significant differences in physiological and metabolic responses to drought stress among genotypes. This study will provide valuable insights into the distinct drought tolerance strategies employed by different tissues, ultimately contributing to a deeper understanding of drought tolerance in barley.

DOI: 10.1134/S1022795425700632
К статье на сайте SpringerLink

Genetic Analysis of Anatolian Water Frogs Using Mitochondrial and Nuclear Markers

A. Kaska¹, T. Binen¹, S. A. Ulubeli², S. Düşen², Y. Kaska²

¹ Animal Breeding and Genetic Research and Application Centre, Pamukkale University, 20190, Denizli, Türkiye
² Department of Biology, Faculty of Science, Pamukkale University, 20190, Denizli, Türkiye
Correspondence to A. Kaska

Türkiye has rich amphibian diversity and high biodiversity and is known to be one of the most threatened countries. We analysed 8 Pelophylax ridibundus, 64 Pelophylax bedriagae and 7 Pelophylax caralitanus samples representing Anatolian water frogs in Turkiye using two nuclear and two mitochondrial markers. Among the mitochondrial markers, NADH dehydrogenase 2 (ND2) and cytochrome b (Cytb) revealed a total of 39 and 21 different haplotypes, respectively. The nuclear serum albumin intron 1 (SAI-1) gene region was found to be very important in the assessment of heterozygosity. The rhodopsin (Rhod) gene region was uniform in all samples. Haplotype analyses were performed using DnaSP version 5.10.3. Maximum likelihood estimations and phylogenetic trees were constructed using MEGA 11 software. In this context, ND2 and SAI-1 markers were found to be more efficient in the genetic evaluation of Anatolian water frogs. Two specimens were morphologically identified as Pelophylax caralitanus that genetically identified with the above markers as Pelophylax bedriagae. In addition, four individuals of Pelophylax bedriagae had a nucleotide sequence more closely aligned to Pelophylax caralitanus, as revealed by a comparison of the species-specific bases. These results were further supported by comparing the estimates of mean evolutionary divergence between sequence pairs within the groups. When the analyses were repeated using genetically defined data for ND2, the genetic distance within populations was found to be decreasing. In conclusion, we suggest that morphological taxonomy should be supported by genetic analyses for the most accurate identification of Anatolian water frogs at the species level.

DOI: 10.1134/S1022795425700668
К статье на сайте SpringerLink

The First Report on BLM Gene Mutations in Iranian Patients with Different Phenotypes of Bloom Syndrome: Identifying Two Mutations and a Literature Review on BLM Gene Mutations

A. Heydari^1,2, M. Mohamadian^1,3, M. Aminzadeh⁴, S. Heidari⁵, A. Khodadadi⁶, M. Sharifat⁶, A. A. Ghadiri^6,7, P. Ghandil^1,2

¹ Cancer and Environmental and Oil Pollutants Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
² Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
³ Department of Molecular Medicine, Birjand University of Medical Sciences, Birjand, Iran
⁴ Pediatric Endocrinology and Metabolism, Pediatric Department, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
⁵ Department of Pediatrics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
⁶ Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
⁷ Air Pollution and Respiratory Disease Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Correspondence to P. Ghandil

Bloom syndrome (BS), also called congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder characterized by genomic instability and predisposition to the development of all types of cancer. Besides, additional presentations have been observed in BS. Herein, we investigated the clinical and genetic aspects ofeight patients withBS in three unrelated Iranian families that exhibit less common symptoms like intellectual disability and polydactyly. After the thorough clinical examinations, whole-exome sequencing (WES) was performed. Following the detection of candidate variants, the familialco-segregation analysis was carried out by PCR-based Sanger sequencing. Meanwhile, a literature review was carried out by utilizing databases to compile information on BLM gene mutations from 2007 to the present. We identified two pathogenic nonsense mutations in the BLM gene in the studied families with the homozygous state. The first one, c.3415C>T (p.Arg1139Ter) mutation, was detected in the 5 patients from family 1 and one patient from family 3. The second one was c.2695C>T (p.Arg899Ter) mutation identified in the two patients from family 2. All unaffected parents were identified with the heterozygous state for the detected mutations in their affected offspring. Through our research in various articles, we gathered twelve different mutations in 17 BS patients from 2007 to the present. Mutation identification and presenting clinical manifestation of the rare disorder make it much easier and faster to diagnose this syndrome from other similar disorders. It also helps with carrier detection, as well as, prenatal diagnosis of bloom syndrome in high-risk families.

DOI: 10.1134/S1022795425700693
К статье на сайте SpringerLink