"Генетика", 2024 г., № 1

Статьи, опубликованные только в Russian J. of Genetics, № 1 – 2024 г.

The Itemization of Variations in the Tassel-Ear Mutant and Wild Maize (Zea mays L.) Plants: II. Changes in Epigenetic Gene Profile

D.B. Khandhar^1,2, V.S. Thaker²

¹ Department of Biosciences, Saurashtra University, 360005, Rajkot, Gujarat, India
² Vimal Research Society for Agro-Biotech and Cosmic Power, 80 feet road, Aji area, 360003, Rajkot, Gujarat, India
Correspondence to V.S. Thaker

Many mutations and phenotypic variations, which often fail to be explained by nucleotide changes with hereditary consequences, are supported by epigenetic analysis. In this study, we aimed to evaluate epigenetic changes in Wild and Mutant maize samples. This study is divided into two main experiments. The first experiment is transcriptome analysis of Wild and Mutant ear and tassel and screening of the gene clusters for epigenetic functions. Followed by the second experiment, where confirmation of the up- and down-regulated selected genes was performed in the studied samples. In the second experiment, a few new mutant plants are also added for comparative analysis. The data revealed that many genes histone modification, DNA methylation, ABC transporter and genes for seed maturation and pollen physiology exhibited up or down regulation in comparison to Wild samples. The probable role of these genes in the mutation of tassel-ear and mutant tassel is discussed.

DOI: S1022795424010095
К статье на сайте SpringerLink

The Complete Mitochondrial Genome of Littoraria ardouiniana (Heude, 1885) (Gastropoda, Littorininae): Sequence, Structure, and Phylogenetic Analyses

C. Wang^1,3, S. Chen³, G. Chen³, P. Xiang³, W. Xu⁴, B. Xing^2,3,*, Y. Tian^4,**

¹ Key Laboratory of Marine Fishery Resources and Ecological Environment of Fujian Province, Fisheries College, Jimei University, 361021, Fujian, China
² Schmid College of Science and Technology, Chapman University, 92866, Orange, CA, USA
³ Third Institute of Oceanography Ministry of Natural Resources, 361005, Fujian, China
⁴ Xiamen Environmental Monitoring Center Station in Fujian Province, 361199, Xiamen, China
Correspondence to B. Xing or Y. Tian

The genus Littoraria plays a significant role in the ecology of intertidal communities and is one of the very few molluscan groups that are closely associated with mangroves. To provide genomic resources for these species, we sequenced the complete mitochondrial genome of Littoraria ardouiniana (Heude, 1885) in this study. The results show that the complete mitogenome sequence of L. ardouiniana was circular and 16,261 bp in length, containing 13 protein-coding genes, 2 rRNA genes, 22 tRNA genes, and 1 non-coding control region. The overall base composition of the mitogenome was 28.95% A, 34.32% T, 15.31% G, and 21.42% C, exhibiting negative AT-skew (–0.109) and GC-skew (–0.196). All PCGs are located on the heavy (H) strand and had a typical initiation codon ATG, and ended with TAA, except for nad2, which ended with T–. Phylogenetic analysis indicated that L. ardouiniana was closely related to Littoraria melanostoma, Littoraria intermedia, and Littoraria sinensis. This study first reported the complete mitochondrial genome of L. ardouiniana and provides valuable data for future molecular evolutionary and conservation studies of the genus Littoraria.

DOI: S1022795424010113
К статье на сайте SpringerLink

GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family

Z. Zargar^1,2, M. Maleknia³, M. Sabzeghabaiean^1,2, J. Mohammadi-Asl^2,4, F. Golab³, M. Naseroleslami^1,*

¹ Department of Cellular and Molecular Biology, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, 19395/1495, Tehran, Iran
² Noorgene Genetic and Clinical Laboratory, Molecular Research Center, 6155884646, Ahvaz, Iran
³ Cellular and Molecular Research Center, Iran University of Medical Sciences, 1449614535, Tehran, Iran
⁴ Cancer, Petroleum and Environmental Pollutants Research Center, Ahvaz Jundishapur University of Medical Sciences, 61357-15794, Ahvaz, Iran
Correspondence to M. Naseroleslami

GM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a deficiency in the activity of the β HEXA isoenzyme. This condition is characterized by the accumulation of GM2 ganglioside within the lysosomes, which subsequently induces neurological consequences. This study sought to find causal variations in a consanguineous family with two affected children strongly suspected of GM2 gangliosidosis and a 17-week fetus. We conducted whole-exome sequencing (WES) on the genomic DNA of the proband to identify the causative variants. Subsequently, we performed confirmation and co-segregation analysis of the identified variant with the phenotype in the proband, fetus, and family members using Sanger sequencing. Also, cytogenetic evaluation was performed using amniocentesis to identify fetal chromosomal abnormalities. After conducting bioinformatic analysis and applying data filtering techniques, we found a novel homozygous variation [NM_000520.6:c.1378T>C:p.W460R] within the HEXA gene. The identified variant was further confirmed through Sanger sequencing in the proband and segregated with GM2 gangliosidosis and infantile Tay-Sachs disease (TSD) in the family. The single alteration was pathogenic and considered a missense variant that altered the protein features by substituting the highly conserved amino acid tryptophan with arginine at position 460 in the HEXA protein sequence. The findings of this study offer additional support for the genetic heterogeneity of GM2 gangliosidosis and broaden the mutational gene spectrum of this inherited metabolic disorder by finding a novel HEXA pathogenic variant that had not previously been reported in these patients.

DOI: S1022795424010125
К статье на сайте SpringerLink