Open Journal of Genetics
Latest articles in this journal
Open Journal of Genetics, Volume 11, pp 1-8; doi:10.4236/ojgen.2021.111001
Introduction: Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. Aims: Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. Case Description: The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. Conclusion: In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.
Open Journal of Genetics, Volume 10, pp 51-63; doi:10.4236/ojgen.2020.103005
Introduction: Congenital hearing loss is the most common sensory deficit in the world and mutations in GJB2 gene are the most common cause of deafness in many populations. Frequency of GJB2 mutations is estimated about 16% in Iran and varies among different provinces with a decreasing trend from north to south. The aim of this study was to investigate the frequency of GJB2 mutations in Mazandaran province, north of Iran, among non-syndromic hearing loss patients. Methods: 262 patients from 204 families participated in this study. After genomic DNA extraction, GJB2 gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. Results: 30.15% of all subjects showed mutations in GJB2 gene. Four mutations, including c.35delG (Gly12Valfs*), IVSI-1 + 1G > A, c.95G > A (Arg32His) and c.224 G > A (Arg75Gln) comprises 69.89% of all mutations in this study c.35delG and IVSI-1 were the most common mutations among patients respectively. Codon 75 mutation (c.224G > A. p: Arg75Gln) with autosomal dominant inheritance was seen in 7 cases from 3 families. 22 patients showed only one mutation in GJB2 gene and in 126 (48.09%) individuals, parents had a consanguineous marriage. Discussion: Frequency of GJB2 gene related hearing loss among patients was higher than average (16%) in this province. This study also showed a dominant inheritance pattern of GJB2 gene in this area. Consanguineous marriage also showed highly frequent among parents. More investigation needs to clarify cause of hearing loss in those 22 patients with one mutation in GJB2 gene, either two gene inheritance or another gene may be responsible for hearing loss.
Open Journal of Genetics, Volume 10, pp 17-34; doi:10.4236/ojgen.2020.102003
Weeds are a major constraint in canola (Brassica napus L.) production worldwide, as they cause significant reductions in seed yield and quality. Crop interference is one of the approaches to tackle weed infestation along with other agronomic interventions. In Australia, studies have shown genetic variation in the canola capability to suppress annual ryegrass (Lolium rigidum Gaudin) in the field and under in vitro conditions. Early-season crop biomass accumulation and greater plant height are desired attributes for suppression weeds in canola. However, the canola ideotype for interference traits against this weed has not been studied under glasshouse conditions. In this study, we compared the competitive ability of 26 canola genotypes against annual ryegrass under both glasshouse and field conditions. Five canola genotypes consistently showed the ability to suppress growth of annual ryegrass. Both at glasshouse and field conditions, the shoot biomass, largely contributed by leaf biomass, was significantly associated with suppression ability. Our results suggest that a glasshouse-based evaluation approach can be used to determine the suppressive ability of advanced breeding lines for suppression of ryegrass growth. Based on our analysis, we suggest that initial screening of large collections of germplasm can be conducted under glasshouse conditions, with selected genotypes further evaluated in the field.
Open Journal of Genetics, Volume 10, pp 1-7; doi:10.4236/ojgen.2019.101001
The question of whether the “synthetic life” created by J.C. Venter was produced by DNA (the genome) also raises the question of whether the basic ideas behind modern genetics (germplasm = the hereditary material of the germ cells = genes) are true. In theory, however, whether genes can produce cells (including traits) should depend on Mendel’s assumptions regarding genes and not on what people can argue or discuss at will. Consequently, the author studied Mendel’s assumptions again. It turns out, unexpectedly, that the gene refers to a hereditary element controlling the specifications of the individual rather than the producer of the individual. That is to say, the gene is a facilitator, and the acceptor produces the individual by following the specifications set by the gene. This is the most significant genetics-related discovery since Mendel’s death, Scientific facts, including Avery’s experiment, consistently proved that this is true.
Open Journal of Genetics, Volume 10, pp 35-49; doi:10.4236/ojgen.2020.102004
The wild cotton diploid species (2n = 2x = 26) are important sources of useful traits such as high fiber quality, resistance to biotic and abiotic stresses etc., which can be introgressed into the cultivated tetraploid cotton Gossypium hirsutum L (2n = 4x = 52), for its genetic improvement. The African wild diploid species G. longicalyx Hutchinson and Lee could be used as donor of the desirable traits of fiber fineness and resistance to reniform nematode. However, hybridization of wild diploid species and cultivated tetraploid cotton encounters a sterility problem of the triploid (2n = 3x = 59), mainly due to ploidy. The restoration of the fertility can be done by creating an allohexaploid (2n = 6x = 78) through the doubling with colchicine of the sterile triploid chromosomes. With this method, a synthetic allohexaploid hybrid (G. hirsutum × G. longicalyx)2 has been obtained. This genotype was studied using phenotypic, cytological and molecular (AFLP) analyses in order to confirm its hybridity and its caryotype, and also to verify the expression of the desirable traits coming from G. longicalyx. The studied genotype showed a quite good level of pollen fertility (83%), and apart from larger seeds and some minor seedling anomalies, most of its morphological characteristics were intermediate between the two parental species. It had 78 chromosomes, proving its hexaploid status. Molecular analysis revealed 136 AFLP loci in this hexaploid, all from G. hirsutum and G. longicalyx, demonstrating its hybrid status. In addition, the hexaploid exhibited the useful traits of G. longicalyx with regard to its remarkable fiber fineness and its high resistance to the reniform nematode. This allohexaploid hybrid constitutes an interesting agronomic material, which can be used as a bridge for the transfer of useful agronomic traits from wild species to varieties of G. hirsutum.
Open Journal of Genetics, Volume 10, pp 8-15; doi:10.4236/ojgen.2020.101002
Open Journal of Genetics, Volume 10, pp 65-81; doi:10.4236/ojgen.2020.104006
Currently afflicting more than 50 million people worldwide, epilepsy is the spectrum disorder characterizing seizures that occur without other plausible medical explanations. Temporal lobe epilepsy (TLE) is one of the most common forms of epilepsy. Current clinical methods; including MRI scans, EEG tests, and doctor visits; can take upwards of several months to confirm a TLE diagnosis; during this time, patients may experience additional seizures and are at an increased risk for other psychiatric disorders. The purpose of this study is to identify candidate genetic biomarkers to facilitate the earlier detection and diagnosis of TLE through gene-based testing (e.g., genomic heatmap analysis or genetic and/or microarray testing). It was hypothesized that potential biomarkers could be identified by analyzing genes that are normally significantly overexpressed in the temporal lobe relative to the gray matter. Statistical and functional analysis was performed on significantly overexpressed genes (≥3.000 fold change) in the gene expression profiles of four donors without epilepsy. The experimental-evidence-based STRING protein interactions analysis showed associations between genes found in DAVID keyword search and other genes facilitating network interconnectivity. After evaluation of the genes’ STRING enriched functions, changes in the expression of the genes CAMK2A, NPY, DLG4, MEF2C, and MAPK7 were concluded to be potential biomarkers for TLE, confirming the original hypothesis. Specifically, the identification of MEF2C and MAPK7 for this purpose is relatively novel in the fields of bioinformatics and neurogenetics. Future work includes investigating the utility of the candidate genes in real-world gene-based diagnostic methods.
Open Journal of Genetics, Volume 09, pp 1-14; doi:10.4236/ojgen.2019.91001
Trifolium alexandrinum, an important forage legume, suffers from narrow genetic base. The present investigation was envisaged to reveal the inter- and intra-species genetic diversity and lineage among 64 accessions, representing a global collection, of T. alexandrinum; it’s two probable progenitor species (T. salmoneum and T. subterraneum) and the three genetically distant species (T. repens, T. vesiculosum, T. michelianum). A set of Simple Sequence Repeats (SSR) primer-pairs developed from T. alexandrinum have shown to amplify alleles across the species under study, suggesting utility of the newly developed resource for assessing molecular diversity among Trifolium species. These SSRs markers together with previously reported SSRs, derived from T. repens, enabled to reveal high intra-species polymorphism in T. alexandrinum and successfully discriminate different species investigated in this study. The diverse accessions determined herein provide a superior resource for further breeding of T. alexandrinum. High allelic similarity of T. alexandrinum with T. subterraneum and T. salmoneum indicated close relatedness among the species, suggesting polyphyletic evolution of T. alexandrinum.
Open Journal of Genetics, Volume 9, pp 43-64; doi:10.4236/ojgen.2019.93004
This paper introduces the hypothesis that during the biosynthesis of prion proteins, the ribosome works in the opposite direction and thus, it is a “prion-poly-anticodon-dependent mRNA polymerase”. And accordingly, in violation of the Central Dogma, information flows from protein to RNA. This requires dogma formula to be re-written as follows: DNARNA Protein. The idea of contextual orientations of the ribosome on mRNA during protein biosynthesis is introduced. This ensures the selection of the correct amino acid or stop position due to the strategic role of the “wobbling” off the 3’-codon nucleotide in non-synonymous codons. This leads to the transition of the genetic code from purely a physico-chemical level of its operation to mental-textual one. This is a representation of the fact of one of the levels of non-locality (continuity) of the genome. There are six such levels of nonlocality. Level 1—Organizational. Here, non-locality is expressed with the ability to regenerate, for example, in planarians. Level 2—Cellular. From every cell, and not just from zygotes, you can grow a whole organism. Level 3—Cellular-nuclear. Enucleation of nuclei from somatic and germinal cells with the subsequent introduction of other nuclei into them does not prevent the development of a normal organism. Level 4—Molecular: the ribosome “reads” the informational RNA not only for individual codons, but for the whole RNA, taking into account the context, that is, non-locally, continually. Level 5— Chromosome-holographic. The genome has a holographic memory, and this is a typically distributed (non-local) associative memory. At this and subsequent levels, non-locality acquires a new quality, a dualistic, material-wave character, since holograms as a substance are “read” by electromagnetic and/or acoustic fields that carry genome-wave information beyond the substance of chromosomes. Level 6—Quantum non-locality of the genome. Up to level 6, the non-locality of genetic information is realized in the space of the organism. Level 6 has a special character and a new quality. It manifests itself in one of the forms of quantum non-locality, namely, permissive, postulated in this work. In this case, the non-locality is realized both in the space of the biosystem and in its own, “compressible” to zero, time. Gene-wave programs that are instantly distributed in such ways, isomorphic to material ones, work in the body “here and there at the same time”, therefore, the semantic construction “first and then” loses its meaning. And this is a strategic factor, an extraordinary achievement for multicellular biosystems. We have obtained theoretical and experimental results confirming our ideas.
Open Journal of Genetics, Volume 9, pp 77-90; doi:10.4236/ojgen.2019.94006
This is an attempt to explain mRNA-dependent non-stationary semantic values of codons (triplets) and nucleotides (letters) in codon composition during protein biosynthesis. This explanation is realized by comparing the different protein codes of various biosystem taxa, and, comparing mitochondrial code with the standard code. An initial mRNA transcriptional virtuality (Virtual-Reality) is transformed into material reality at the level of translation of virtual triplets into real (material) amino acids or into a real stop command of protein biosynthesis. The transformation of virtuality into reality occurs de facto when the linguistic sign1 functions of the codon syhoms are realized in the 3’ nucleotide (wobbling nucleotide according to F. Crick) in the process of protein biosynthesis. This corresponds to the theoretical works of the authors of this article. Despite the illusory appearance of semantic arbitrariness during the operation of ribosomes in the mode of codon semantic non-stationarity, this phenomenon probably provides biosystems with an unusually high level of adaptability to changes in the external environment as well as to internal (mental) dynamics of neuron’s genome in the cerebral cortex. The genome’s non-stationarity properties at the nucleotide, codon, gene and mental levels have fractal structure and corresponding dimensions. The highest form of such fractality (with maximum dimension) is probably realized in the genomic continuum of neurons in the human cerebral cortex through this semantic Virtual-to-Real (VR) codon transcoding with the biosynthesis of short-living semantic proteins, as the equivalents of material thinking-consciousness. In fact, this is the language of the brain’s genome, that is, our own language. In this case, the same thing happens in natural, primarily mental (non-verbal) languages. Their materialization is recorded in vocables (sounding words) and in writing. Such writing is the amino acid sequence in the semantic proteins of the human cerebral cortex. Rapidly decaying, such proteins can leave a long-lasting “so-called” Schrödinger wave holographic memory in the cerebral cortex. The presented below study is purely theoretical and based on a logical approach. The topic of the study is very complex and is subject to further development.