Department Of Genetics Research Articles

Assessment of Genotypic and Phenotypic Correlation Coefficient in Twenty Genotypes of Gladiolus (Gladiolus grandiflorus L.) for Gwalior Region

A field experiment was conducted to study the “Genotypic and Phenotypic correlation coefficient in twenty genotypes of Gladiolus for Gwalior region” during 2021-2022 at Department of Genetics and Plant Breeding, School of Agriculture, ITM University, Gwalior, Madhya Pradesh. In this experiment twenty genotypes of Gladiolus were planted for the evaluation and the results of investigation revealed that for yield improvement through selection emphasis should be given on the characters like Plant height, Spike length, Rachis length, No. of shoots per plant, No. of corms per plant. Especially the emphasis may be laid down upon the Plant height, Number of florets or Diameter of the floret, since these characters had highly significant and positive correlations with Spike length so a direct selection from genotypes will be more effective for improvement of this crop.

EAT2beNICE Project: The correlation between diet and mental health

EAT2beNICE Project: The correlation between diet and mental health Jeanette C. Mostert & Alejandro Arias Vasquez from the Departments of Genetics and Psychiatry, Radboud University Medical Center Nijmegen, The Netherlands, reveal that diet and mental health are linked, as they reflect on the lessons learned from the Eat2beNICE project. We all know the saying, “you are what you eat”. The food we eat provides the building blocks for our bodies, directly linking our diet and mental health. Healthy eating is, therefore, essential for our physical and mental wellbeing.

Exploring hexacorallian models to aid corals affected by climate change

Exploring hexacorallian models to aid corals affected by climate change In this interview, Benyamin Rosental, PhD, from the Shraga Segal Department of Microbiology, Immunology, and Genetics, looks toward hexacorallian models to transplant stem cells to corals affected by global warming. Why are you researching stem cell transplantation on hexacorallian models? The first step of our research is with our model sea anemones, which are part of the hexacorallia subclass along with stony corals. The purpose of the tool that we are developing is to develop stem cell-based therapies for corals.

Klinefelter syndrome: The characterization of the clinical and sociological features of 51 patients

IntroductionKlinefelter syndrome is the most frequently found aneuploidy among male patients. Its clinical presentation is very heterogeneous, and thus poses a challenge for a timely diagnosis. MethodsA retrospective study was carried out with 51 consecutively selected patients diagnosed with Klinefelter Syndrome from Jan/2010 to Dec/2019. The karyotypes were identified using high resolution GTL banding at the Genetics Department. Multiple clinical and sociological parameters were studied by collecting data from the clinical records. Results44 (86%) of the 51 patients presented a classical karyotype (47,XXY) and 7 (14%) showed evidence of mosaicism. The mean age at diagnosis was 30.2±14.3 years old. Regarding the level of education (N=44), 26 patients (59.1%) had no secondary education, with 5 (11.4%) patients having concluded university studies. Almost two thirds of the sample revealed learning difficulties (25/38) and some degree of intellectual disability was present in 13.6% (6/44). Half of the patients were either non-qualified workers (19.6%) or workers in industry, construction, and trades (30.4%), which are jobs that characteristically require a low level of education. The proportion of unemployed patients was 6.5%. The main complaints were infertility (54.2%), followed by hypogonadism-related issues (18.7%) and gynecomastia (8.3%). 10 patients (23.8%, N=42) were biological parents. With regards the question of fertility, assisted reproductive techniques were used in 39.6% of the studied subjects (N=48), with a success rate (a take home baby) of 57.9% (11/19), 2 with donor sperm and 9 with the patients’ own gametes. Only 41% of the patients (17/41) were treated with testosterone. ConclusionThis study identifies the most important clinical and sociological findings of Klinefelter syndrome patients that should be considered when deciding workout and disease management.

5612560 A MONITORING AND EVALUATION FRAMEWORK AND ASSOCIATED TOOLS FOR THE SICKLEINAFRICA CONSORTIUM

1Victoria Nembaware, 1Paidamoyo Bodzo, 2Malula Nkanyemka, 2Irene Minja, 2Julie Makani, 3Nicola Mulder, 1,4Ambroise Wonkam on behalf of the SickleInAfrica Consortium 1Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa 2Sickle Cell Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences 3Computational Biology Division, Faculty of Health Sciences, Anzio Road, Observatory, Cape Town, South Africa 1,4McKusick-Nathans Institute of Genetic Medicine and Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Background: The SickleInAfrica consortium aims facilitate research in Sickle Cell Disease (SCD) and the subsequent translation of this research into healthcare and health outcomes. SickleInAfrica is made up of three initiatives: Sickle Africa Data Coordinating Center (SADaCC) and the Sickle Pan-African Research Consortium (SPARCO), which has a clinical coordinating center (CCC) in Tanzania and SPARCO research sites based in seven countries: Ghana, Nigeria, Mali, Tanzania, Uganda, Zimbabwe and Zambia. To achieve its goals SickleInAfrica is creating a multi-country registry of over 30,000 SCD patients amongst other activities which include: skills development, development of standards of care, maintenance of a SCD Ontology, strengthening of infrastructure and addressing pertinent ethical, legal and social issues. A key challenge is the monitoring and evaluation of activities across the consortium in a consistent manner. Method: To maximize efforts and increase the likelihood of impact of this consortium we developed a consortium-wide outcome-based monitoring and evaluation plan which is informed by existing frameworks and lessons from existing consortia and research projects. In addition, we conducted stakeholder consultation during consortium meetings which were used to continually adjust the system. Most of the framework was imbedded into the consortium website to allow for seamless data collection. Results: We present SickleInAfrica activities and outline the corresponding monitoring and evaluation framework, associated indicators, dashboard and tools which are accessible via the SickleInAfrica website. The proposed framework was designed to be adaptable by other consortia and research initiatives. Summary and Conclusion: To facilitate large-scale monitoring and evaluation of consortium activities, we propose a framework which is mostly web-based. Once stable, such a framework and associated tools will be made available for use by similar initiatives. Reference 1. Makani et al, Lancet Haematol. 2020; 7(2):e98-e9

Genetic Divergence for Grain Yield and Its Components in Bread Wheat (Triticum aestivum L.): Experimental Investigation

The present investigation Comprises 34 advanced breeding lines including checks of bread wheat and experiment was conducted in a complete randomized block design with three replications at the research farm department of genetics and plant breeding, RVSKVV, B.M. College of Agriculture, Khandwa during Rabi season (November 2021 to April 2022) for estimation of the multivariate analysis of divergence. The advanced breeding lines were grouped into seven clusters. Cluster III contained the highest number of advanced breeding lines(12) and clusters V, VI, and VII contained the lowest (1 each). The inter-cluster distance in most cases was larger than the intra cluster distance which indicated that wider diversity is present among the advanced breeding lines of distant grouped. The highest intra cluster distance was observed in cluster IV revealed maximum genetic divergence among its constituents. The highest inter-cluster distance was found between cluster VI and VII and the lowest was between cluster V and VI. Highest cluster mean exhibited in cluster VII for most of the agro-morphological traits i.e. number of tillers/plant, spike length, spike weight, number of grain/spike followed by cluster II for grain filling period, days to maturity and plant height. On the basis of genetic diversity analysis, maximum percent contribution towards genetic divergence in 34 advanced breeding lines were found in grain filling period, days to maturity, number of grain/spike, days to 50% flowering, biological yield per plant and harvest index. Such differences in the genetic component of traits studied in the manuscript can be applied as a source of variation in other breeding programmes and crossing nurseries for wheat improvement.

Heterosis breeding for yield and its attributes in brinjal (Solanum melongena L.)

A study on heterosis in brinjal was carried out during the year 2019-20 at the Department of Genetics and Plant Breeding, Annamalai University. Seven genotypes were hybridised in full diallel fashion and the resultant 42 hybrids were evaluated along with parents in RBD. The mean squares of the 11 traits revealed significant differences among the entries. The hybrid ICO-345590 x Arka Kusumkar recorded high heterobeltiosis for fruit yield per plant and its associated traits except for fruit grith, fruit length, plant height, and days to first harvest. High standard heterosis was recorded by the hybrid ICO-344674 x ICO-383119 for plant height, ICO-344674 x Arka Kusumkar for days to first harvest, Arka Kusumkar x ICO-345590 for fruit length and ICO-345590 x ICO-545862 for fruit girth. The application of heterosis in brinjal will aid in the production of superior cross combinations, which will help meet the expanding demand for brinjal due to its bioactive properties. Keywords: brinjal, heterosis, fruit yield, diallel.

Meet the First Authors.

Meet the First Authors.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson's disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. Whole exome sequencing (WES) is widely regarded as the current technology of choice for diagnosing monogenic ND. The introduction of NGS allows for rapid and inexpensive large-scale genomic analysis and has led to enormous progress in deciphering monogenic forms of various genetic diseases. The simultaneous analysis of several potentially mutated genes improves the diagnostic process, making it faster and more efficient. The main aim of this report is to discuss the impact and advantages of the implementation of WES into the clinical diagnosis and management of ND. Therefore, we have performed a retrospective evaluation of WES application in 209 cases referred to the Department of Biochemistry and Molecular Genetics of the Hospital Clinic of Barcelona for WES sequencing derived from neurologists or clinical geneticists. In addition, we have further discussed some important facts regarding classification criteria for pathogenicity of rare variants, variants of unknown significance, deleterious variants, different clinical phenotypes, or frequency of actionable secondary findings. Different studies have shown that WES implementation establish diagnostic rate around 32% in ND and the continuous molecular diagnosis is essential to solve the remaining cases.

Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population.

In inherited and familial cardiovascular diseases (CVDs), relatives without current symptoms can still be at risk for early and preventable cardiovascular events. One way to help people evaluate their potential risk of CVD is through a risk-assessment tool based on family health history. However, family criteria including inherited CVD risk to be used by laypersons are non-existent. In this project, we employed a qualitative study design to develop expert-based family criteria for use in individual risk assessment. In the first phase of the project, we identified potential family criteria through an online focus group with physicians with expertise in monogenic and/or multifactorial CVDs. The family criteria from phase one were then used as input for a three-round Delphi procedure carried out in a larger group of expert physicians to reach consensus on appropriate criteria. This led to consensus on five family criteria that focus on cardiovascular events at young age (i.e., sudden death, any CVD, implantable cardioverter-defibrillator, aortic aneurysm) and/or an inherited CVD in one or more close relatives. We then applied these family criteria to a high-risk cohort from a clinical genetics department and demonstrated that they have substantial diagnostic accuracy. After further evaluation in a general population cohort, we decided to only use the family criteria for first-degree relatives. We plan to incorporate these family criteria into a digital tool for easy risk assessment by the public and, based on expert advice, will develop supporting information for general practitioners to act upon potential risks identified by the tool. Results from an expert focus group, a Delphi method in a larger group of experts, and evaluation in two cohorts were used to develop family criteria for assessing cardiovascular disease risk based on family health history for a digital risk-prediction tool for use by the general population. CVD Cardiovascular disease, ICD Implantable cardioverter defibrillator, TAA Thoracic aortic aneurysm, AAA Abdominal aortic aneurysm.

Assessment of Genetic Variability for Yield & Its Contributing Traits in Rice (Oryza sativa L.)

The research work was executed Research cum Instructional Farm, Genetics and Plant Breeding department of IGKV Raipur (C.G.) during kharif 2021. The research material under research comprised of 50 rice germplasm lines including two checks namely Mahamaya and Rajeshwari, which were tested in RBD with two replications. The observation of research investigation were recorded for total eight characters viz. Days to 50% flowering, Number of tillers per plant, Panicle length(cm), Plant height(cm), 1000seed weight(g), Grain yield per plant(g), Biological yield per plant(g), Harvest index(%). The analysis of variance showed that there was a highly significant variation in genotypes for all of the studied characters. A small difference between PCV and GCV suggests that the environment has little impact on the concerning traits. The number of tillers per plant, 1000 seed weight, grain yield per plant, biological yield per plant and harvest index had high heritability along with high genetic advance as a percent of mean indicates that the heritability is most likely caused by additive gene action and selection may be effective.

First person – Nazlı Ezgi Özkan

ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Journal of Cell Science, helping researchers promote themselves alongside their papers. Nazlı Ezgi Özkan is first author on ‘ Cell cycle-dependent palmitoylation of protocadherin 7 by ZDHHC5 promotes successful cytokinesis’, published in JCS. Nazlı Ezgi conducted the research described in this article while a PhD student in Nurhan Özlü’s lab at Koc University, Istanbul, Türkiye, Department of Molecular Biology and Genetics. She is now a postdoc in the lab of in the same lab, working on understanding the role of post-translational modifications in cell division using a combination of cell biology and proteomics approaches.

Correlation and Path Coefficient Analysis for Yield and Its Related Traits in Buckwheat (Fagopyrum esculentum Moench)

An experiment was carried out to study the correlation and path analysis in 40 buckwheat genotypes during Rabi, 2021-2022 at the Department of Genetics and Plant Breeding, SHIATS, Allahabad in Randomized BlºCk Design with three replications to analyze correlation and path Analysis. Analysis of variance showed significant difference for seed yield and its components indicating presence of large amount of variability in the genotypes. The magnitude of GCV and PCV recorded highest for economic yield, plant height, time of beginning of flowering, number of branches, test weight, days to 50% flowering. High heritability coupled with high genetic advance as percent mean was recorded for economic yield, plant height, time of beginning of flowering, test weight, number of branches, days to 50% flowering, days to 80% maturity. Seed yield per plant showed a highly significant positive correlation with test weight and days to 80% maturity at both the genotypic and phenotypic levels. Path analysis revealed that test weight and time of beginning of flowering registered high and positive direct effect on seed yield per plant. It suggests that there is a true relationship between these traits, and that direct selection for these traits will be beneficial for yield improvement.

Twice-daily injections and multiple daily injections of insulin in toddlers with type 1 diabetes: a retrospective cohort study.

Twice-daily injections and multiple daily injections of insulin in toddlers with type 1 diabetes: a retrospective cohort study.

Regulatory Role of Insulin on Endogenous L1 ORF1 and NEFM Gene Expression through PI3K Signaling Pathway Specifically in Neuroblastoma Cell Line.

One of the most important endogenous factors causing genomic instability in human cells is L1s retrotransposons. In this study, we assume that increased activity of L1 retrotransposons (specifically L1 expression) might be induced by hyperglycemia and hyperinsulinemia in neuroblastoma cell line. Two different cell lines (BE (2)-M17 and HEK293) were treated with insulin and its PI3K signaling pathway inhibitor under three conditional media including hyperglycemic and retinoic acid treatment in the department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran in 2018. The expression of L1 ORF1, as well as genes involved in insulin signaling pathway and neuronal stress and structure were measured at RNA level. Insulin could significantly down regulate the expression of L1 ORF1 and NEFM genes. Hyperglycemia result in severe decrease in expression of all candidate genes in control neuroblastoma but not HEK293 cells. Retinoic acid as the concentration used in this study cause increase stemness in neuroblastoma but not HEK293 cells. We could not find significant correlation between expression pattern of other genes tested in our study and L1 ORF1 expression. Total regulatory effect of insulin on L1 ORF1 RNA expression as well as NEFM markedly in BE (2)-M17 cell line. Although these results could not be interpreted as L1 retrotransposition, expression of L1 RNA during stress conditions might be considered following inhibition of the insulin pathway. The result of this study also confirms the impotence of insulin on human evolution.

Effect of seed priming treatment on cumin [Cuminum cyminum (L.)] seed germination and growth

The investigation on the effect of seed priming treatment on cumin [Cuminum cyminum (L.)] seed germination and growth was carried out at Seed Technology Laboratory, Department of Genetics and Plant Breeding, SDAU, Sardarkrushinagar, during Rabi 2019-20. Four varieties were considered, viz., Gujarat Cumin-1, Gujarat Cumin-2, Gujarat Cumin-3 and Gujarat Cumin-4 were obtained from the Centre for Seed Spices Research Station, SDAU, Jagudan. Seeds of four varieties were treated with five treatments: -1.4 MPa PEG, -1.0 MPa PEG, 0.2% KNO3, 0.4% KNO3 and control. The experiment was laid out in a factorial completely randomized design with three replications comprising five treatment combinations. The combined effect of pre-sowing seed treatment and varieties showed a significant effect on seed germination and growth of the seedling. The variety GC-4 was superior to the varieties GC-1, GC-2 and GC-3. The laboratory data was collected for the GC-4 variety and T3 treatment (-1.0 MPa PEG) combination. This combination displayed the highest values for all measured characteristics, including germination percentage (80.81%), root length (5.20 cm), shoot length (4.61 cm), seedling length (9.59 cm), seedling fresh weight (216.40 mg), seedling dry weight (11.81 mg), seedling vigour index-I (812.47), and seedling vigour index-II (952.70). These results were significantly correlated when compared to the other treatments. Therefore, it can be concluded that the GC-4 variety and T3 treatment combination resulted in the most robust and healthy seedlings under laboratory conditions.

Effect of titanium dioxide (TiO2) nanoparticles on the storability of onion (Allium cepa L.) seeds under ambient condition

TiO2 nanoparticles are highly stable, eco-friendly in nature, having low cost, act as a photo catalyst also having antimicrobial properties. Considering the effect of TiO2 nanoparticles on seeds, a study was conducted during March 2022 to June 2022 at Department of Genetics and Plant Breeding, SHUATS, Prayagraj (U.P). In this study onion seeds of variety Nasik Red N-53 were collected to investigate the effect of TiO2 nanoparticles on the seedling characters as well as on the biochemical characters under storage in ambient conditions. Onion seeds were treated with different concentration of TiO2 nanoparticles (10, 20, 30, 40, 50, 60, 70, 80, 90, 100, 110, 120, 130 and 140 ppm) along with control and stored in two containers; viz. tin container (C1) and aluminum foil pouch (C2). All the seedling parameters were evaluated every month during storage. The experiment was conducted in factorial CRD with 4 replications. The experimental result showed that the storage containers influenced the seedling characters of onion. Seeds stored in aluminum foil pouch (C2) exhibited highest germination per cent (52.93 %), speed of germination (3.76), root length (2.27 cm), shoot length (4.11 cm), seedling length (6.38 cm), fresh weight (0.176 gm), dry weight (0.0205 gm), seed density (1.025 gm/cm3), dehydrogenase activity (0.213 OD/g mL), catalase activity (0.0220 nmol/min/mg protein) and exhibited lowest moisture per cent (8.05 %) and lowest electrical conductivity (0.970 dS/m) as compared to tin container at the end of 3 months of storage. Seed treated with TiO2 nanoparticles @40ppm (T4) for 2 hours performed better in terms of seedling parameters; viz. germination per cent (58.5 %), speed of germination (4.20), root length (3.06 cm), shoot length (4.58 cm), seedling length (7.64 cm), fresh weight (0.222 gm), dry weight (0.0259 gm), seed density (1.056 gm/cm3), dehydrogenase activity (0.337 OD/g mL), catalase activity (0.0375 nmol/min/mg protein) and recorded lowest moisture per cent (8.04 %) and lowest electrical conductivity (0.951 dS/m) as compared to control after 3 months of storage. The study concluded that seed treated with TiO2 @40 ppm and stored in aluminum foil pouch can be used to expand the storability of onion seeds under ambient condition.

Genetic Data Governance in Japanese Hospitals.

The online version contains supplementary material available at 10.1007/s41649-023-00242-9.

GENETIC ANALYSIS OF WHEAT ACCESSIONS FOR YIELD CONTRIBUTING TRAITS UNDER WATER DEFICIT CONDITION

Current research was conducted in the field area of Department of Plant Breeding and Genetics, University of Agriculture Faisalabad during 2018-19. Six parents were used as female lines and three parents as male testers. F1 along with their parents were sown under drought and normal conditions in a randomized complete block design. Data were recorded for flag leaf area, chlorophyll contents, plant height, spike length, spikelets per spike, grains per spike, grain weight per spike, relative water contents, spike density, weight of 1000-grain, grain yield from each plant and tillers per plant. F1 plants and their parents were evaluated for general as well as for specific combining ability. The SSR marker-based screening of parental genotypes was also conducted using 4SSR markers related to drought tolerance. Under normal water conditions, parent Chakwal-50 was a good general combiner for plant height and 1000 grain weight, 9774 perform best for spike length and grain weight per spike. Line BARS-2009 performed best for tillers per plant, number of spikes per plant. In drought conditions, for plant height parent AAS11, Chakwal-50 and 10137 gave significant results. Line BARS-2009 and 9774 gave desirable results for number of tillers per plant. Under normal water condition, cross 9774 × Kohistan 97, Chakwal-50 × Sialkot-13, Chakwal-50 × 9733, BARS-2009 × 9496 and Punjab 2011 × Sialkot-13 performed well for chlorophyll content, flag leaf area, 1000-grain weight and tillers/plant. In drought conditions, crosses 9774 × Kohistan 97, AAS-11 × Sialkot-13, 10137 × Sialkot-13 and 10137 × 9496 performed good for plant height, grain weight per spike, flag leaf area and yield per plant. So, it was concluded from physiological and molecular analysis results that among parents Chalwal-50, BARS-2009, 9496 and 10137 were better performing for drought and can be included in future breeding program.

Linguistic profile automated characterisation in pluripotential clinical high-risk mental state (CHARMS) conditions: methodology of a multicentre observational study

IntroductionLanguage is usually considered the social vehicle of thought in intersubjective communications. However, the relationship between language and high-order cognition seems to evade this canonical and unidirectional description (ie, the...