Journal of Genetics最新文献

The ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms have been shown to be associated with various human diseases and pathological conditions such as cardiovascular disease and Alzheimer's disease. However, these associations remain unclear and inconclusive. Interestingly, short telomere length was also observed in these diseases. In the present study, our aims were to investigate the interaction between two selected ABCA1 polymorphisms (-565C/T and R219K) and telomere length in a Chinese rural population including 1629 subjects and explore the underlying mechanisms. Genotyping was conducted using Taqman SNP Genotyping Assays. Mean relative leukocyte telomere length was measured using monochrome multiplex quantitative PCR method. We found that the telomere length of R219K RR genotype was significantly shorter than RK or KK genotypes (1.242 ± 0.198 vs 1.271 ± 0.207, P = 0.027 and 1.242 ± 0.198 vs 1.276 ± 0.209, P = 0.021, respectively). While the neutrophil to lymphocyte ratio (NLR) of R219K RR genotype was significantly higher than KK genotype (1.929 ± 0.826 vs 1.768 ± 0.893, P = 0.019). In the general linear models after adjustments for confounding factors, the KK and RK genotypes were both significantly associated with telomere length and NLR. A significant association was also observed for K allele carrier genotypes when compared with RR genotype for telomere length and NLR. In conclusion, the R219K polymorphism of ABCA1 was independently associated with telomere length. R219K K allele could be protective against shortening of telomeres and inflammation.

Leptin is an adipocyte-secreted hormone which is involved in the regulation of food intake and energy expenditure. To ascertain the potential association between leptin gene (LEP) -2548G>A and 19A>G polymorphisms and obesity risk in the north Indian Punjabi population, a group of 250 obese and 300 control subjects were randomly selected. Both the polymorphisms in the LEP gene -2548G>A (GG vs AA: odds ratio (OR), 1.44; 95% confidence interval (CI), 0.87-2.38) and 19 A>G (AA vs GG: OR, 2.31; 95% CI, 1.32-4.05) were significantly associated with an increased risk of obesity. Logistic regression analysis revealed the significant associations in a recessive genetic model (OR=2.061; 95% CI: 1.14-3.73) and (OR= 2.57; 95% CI: 1.43-4.63) respectively for -2548G>A and 19A>G polymorphisms after adjusting for various covariates of obesity, thus, confirming the major role of anthropometric and environmental factors in this population. Haplotype analysis identified that G-G haplotype conferred approximately two-fold increased obesity risk (P=0.002). The -2548A allele and the selected obesity related covariates accounted for 53%, 26% and 30.2% variability in body mass index (BMI), waist-to-hip ratio (WHR) and triglycerides (TG), respectively. Similarly, the 19G allele contributed 75%, 27% and 36% of the variability in the waist circumference (W-crc), and WHR and TG levels, respectively in the obese individuals. Therefore the present study has revealed that both LEP -2548G>A and 19A>G polymorphisms have an important role in a individual's susceptibility towards obesity and thus could serve as relevant obesity markers in the north Indian Punjabi population.

Schizophrenia (SZ) is a highly inherited disease that affects ~0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient, the disease seriously interferes with the ability to function in society and affects the mental state of the patient. In most patients, the first manifestations of SZ appear during the adolescence or early adulthood. The hypothesis that SZ origin in impaired development of the nervous system is currently widely accepted. Some studies have identified several genetic and environmental factors that increase the risk of the disease manifestation, but none of them can be considered as the only cause of SZ. The genetics of the disease is complex and in last two decades it is assumed that the cryptic rearrangements could be one of its causes. Cryptic rearrangements (microdeletions and microduplications) are the chromosomal rearrangements smaller than 3-5 Mb. Their discovery was conditioned by the development of molecular genetic and molecular cytogenetic techniques. The aberrations affect one or more genes and change the gene dose. In this article, we present the rearrangements of the regions of human chromosomes more closely associated with the onset and development of SZ. Next, the candidate genes will be presented together with their inclusion in the context of theories trying to explain the origin of SZ through some important factors (e.g. action of dopamine or glutamate or GABA, formation of dendrites and neuronal synapses, etc.).

Investigating the population genetic structure of parasites and their host plants can provide valuable insights into their coevolutionary processes. In this study, we assessed and compared the population genetic diversity and structure of 12 Rhus gall aphid (Schlechtendalia chinensis) populations and their respective host plant (Rhus chinensis) using amplified fragment length polymorphism (AFLP) markers. Analysis of molecular variance (AMOVA) revealed that both the aphid and its host plant exhibited higher genetic variance within populations than among them, indicating that their coevolutionary history may have produced analogous patterns of population genetic structure. Additionally, we considered alternative factors that could contribute to this outcome, such as intraspecific gene flow, hybridization, or environmental influences. Our analysis did not reveal a significant correlation between genetic and geographic distances of either the aphid or host plant populations, leading us to reject the isolation-by-distance model as a plausible explanation for the demographic histories of these two species.

The inheritance of the mitochondria genome and its diversity is unique for genetic and evolutionary studies relative to nuclear genomes. Northeast India and Himalayan regions are considered as one of the centres of indica rice origin. Also, rice diversity in northeast India is very distinct and highly suited for evolutionary studies. Although reports are available on the genetic diversity of indigenous northeast rice landraces, its relationship with the wild relatives is not yet properly explored and understood. In an attempt, mitochondrial markers were used to study the evolutionary relationship between the 68 landraces of northeast India and wild relatives (O. rufipogon and O. nivara) along with IR64 (indica) and Nipponbare (japonica) were taken as reference cultivars. Phylogenetically, the findings include two distinct clusters in the indigenous northeast India landraces representing indica and japonica groups. Further, the wild relatives and ~60% of northeast India landraces were identified to be closely related to the Nipponbare cluster. Besides, landraces of northeast India grouping with the indica group (IR64) are characterized by the absence of wild relatives. This indicates that there are two distinct evolutionary paths in the origin of northeast Indian rice landraces based on mitochondrial markers diversity and it is proposed that the inheritance of mitochondria, mitonuclear genome interactions, and bottleneck events could have genetically separated these two phylogenetically unique groups of northeast rice landraces.

Numerous investigations have been recently published on the dysregulated expression of long-noncoding RNAs (lncRNAs) in various cancer types, emphasizing that abnormal lncRNA expression is a major contributor to tumourigenesis. A broad spectrum of lncRNAs is expressed in the central nervous system, where these RNAs seem to play key roles in brain development and function. In addition to expressing SOX2, a master regulator of pluripotency that lies within its third intron, lncRNA SOX2OT has a proposed role in regulating neural development. Based on our previous studies, alternative splicing of SOX2OT generates two alternatively spliced variants (SOX2OT-S1 and SOX2OT-S2). The present study investigated the expression patterns of SOX2OT variants and SOX2 in three principal types of brain tumours (gliomas, meningiomas and pituitary adenomas) and in four brain tumour cell lines (U87-MG, 1321N1, A172 and DAOY). Total RNAwas extracted from 34 human brain tumour specimens, and the expression profile of target genes was measured using a real-time reverse transcription PCR approach. Our data revealed distinct expression patterns for SOX2OT variants and SOX2 in the brain tumour samples, indicating their potential involvement in brain tumourigenesis. Moreover, our results highlighted the potential usefulness of SOX2OT-S1, SOX2OT-S2, and SOX2 in molecular diagnosis and brain tumour classification.

Congenital myasthenic syndromes (CMSs) are a diverse group of diseases that have an underlying defect in transmission of signals from nerve cells to muscles that lead to muscular weakness. A 13-year-old male child born of consanguineous parents with profound motor developmental delay and normal cognition was referred to us. The younger male sibling aged 9 months was similarly affected. Electromyography (EMG) and nerve conduction studies revealed CMS. Clinical exome sequencing revealed a novel large deletion including the exons 2 to 9 of SYT2 gene which confirmed the diagnosis of presynaptic CMS type 7 in the siblings. The deletion was confirmed on a chromosomal exon microarray. The parents were confirmed carriers of the same mutation and were normal on clinical and EMG studies. This is the second case of CMS type 7 described with a large deletion of SYT2 gene, a first case with SYT2 gene mutation from India and overall 10th recessive case in the world.

The cicada species, Hyalessa fuscata and H. maculaticollis(Hemiptera: Cicadidae), share numerous morphological characters, and their status as distinct species remains controversial. We reconstructed a phylogeny based on two new mitogenomes of H. fuscata from Korea and H. maculaticollis from Japan, in combination with GenBank sequences of H. maculaticollis from China and Japan, and other closely related cicada species. Maximum likelihood and Bayesian inference phylogenies showed that H. fuscata from Korea is more closely related to H. maculaticollis from China than either is to H. maculaticollis from Japan. The time-calibrated Bayesian evolutionary analysis by sampling trees (BEAST) phylogeny indicated that the mainland and insular forms diverged approximately 1.7-2.6 million years ago. This coincides with the formation of the East China Sea land bridge between East Asia and the Japanese archipelago, which would provide a dispersal corridor for Hyalessa from the mainland via the Korean peninsula southeastward to Japan. East Asian H. fuscata is a geographic variant that may be considered synonymous with H. maculaticollis.

MicroRNA (miR)-130a-3p has been unraveled to exert effects on diabetes. However, the research for probing its role in diabetic retinopathy (DR) is limited. Our study intends to unravel the regulatory effects of miR-130a-3p on DR development via cell division cycle 42 (CDC42). The DR mouse model was established and the serum sample of DR patients was collected. The levels of miR- 130a-3p and CDC42 in DR mice and patients were detected. The nucleic acids modified miR-130a-3p or CDC42 were injected into DR mice to examine the change of glucose lipid levels, visual acuity, oxidative response and the distribution and expression of CDC42 in retinal tissues in DR mice. The target relationship between miR-130a-3p and CDC42 was confirmed. MiR-130a-3p expression was reduced while CDC42 levels were elevated in DR (P<0.05). The upregulation of miR-130a-3p could hinder glucose lipid levels, improve the visual acuity, relieve the oxidative response and decrease CDC42 expression levels in DR mice (P<0.05). The CDC42 elevation reversed the positive effects of upregulated miR-130a-3p on DR progression (P<0.05). MiR-130a-3p targeted CDC42. The elevated miR-130a-3p relieves glucose lipid levels and oxidative damage in DR by modulating CDC42. The study provides novel therapeutic targets for DR treatment.