Genetics Laboratory Research Articles

P-143 Will Use of Testicular sperm in ICSI cycles increase Embryo Aneuploidy?

Abstract Study question Will use of surgically retrieved Testicular Sperms (TESA) in Intra-Cytoplasmic Sperm Injection (ICSI) cycles increase embryo aneuploidy? Summary answer Use of TESA sperms for ICSI seems safe and doesn’t increase embryo aneuploidy. TESA performed for various indications also showed no variation with embryo aneuploidy. What is known already Invention of ICSI and improved surgical sperm retrieval techniques have helped men with severe male factor infertility to father their own genetic child. Sperms retrieved from seminiferous tubules of testes are considered immature as they haven’t completed the process of spermiogensis. It is hypothesized that use of TESA sperm for ICSI can increase embryo aneuploidy, which is still uncertain. Study design, size, duration This retrospective study conducted at a private fertility clinic from 2014–2022 (n = 265 patients; total of 860 embryos evaluated). Study populationTESA sperm used and PGT-A done (n = 66). TESA group was further sub-divided into 2 groups based on the indication for TESA,Non-Obstructive Azoospermia(n = 26) and Raised SDF(n = 40). Control Population Ejaculated sperm used and PGT-A done (n = 199) Only younger women(<37yrs) with self-gametes and RIFconsidered in this study. RIF was defined as women with 2 failed IVFcycles in thepast with at least 4 blastocystsbeing transferred. Participants/materials, setting, methods All fertilized oocytes inseminated by ICSI and subjected to extended blastocyst culture. TESA done as per our clinic’s SOP and for control group sperm preparation done by density gradient method. Trophectoderm biopsy was performed and sent for PGT-A to the genetic lab. Next-Generation sequencing (NGS) was the Comprehensive Chromosomal technique (CCS) used for assessing embryo ploidy status. Aneuploidy across all groups compared. Main results and the role of chance Following were the Aneuploidy rates of TESA sperm, Ejaculate sperm group and TESA done for NOA and SDF respectively. Ejaculate Sperm – Aneuploidy%- 42% TESA Sperm (irrespective of the indication)- Aneuploidy%- 44% (p = 0.6260) TESA Sperm (done for NOA)- Aneuploidy%- 44% (p = 0.7504) TESA Sperm (done for raised SDF) – Aneuploidy%- 32% (p = 0.05) Embryo aneuploidy was comparable between Ejaculate and TESA sperm group. Though TESA sperm is considered immature, it didn’t seem to increase embryo aneuploidy. Embryo Aneuploidy from TESA sperm ICSI cycles done for NOA or raised SDF also showed no altering trend. Data from this study is suggestive that TESA sperm doesn’t alter embryo ploidy status. Limitations, reasons for caution Data is retrospective with small sample size and unequal distribution. A well designed Randomized Trial might help test the inference of this study further. Wider implications of the findings Incidence of male infertility and use of ICSI is on a rise globally. Interventions to optimize embryo implantation and reproductive outcomes will help with better success rates and shorten duration to conception. Further research is warranted with severe male factor infertility to improve sperm selection techniques and reproductive outcomes. Trial registration number not applicable

Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA-repair genes.

The aim of this study is to evaluate male awareness of developing prostate cancer (PCa) in families with germline DNA-repair genes (DRG) variants. Data were collected from a prospective, monocentric cohort study. The study was conducted in a university hospital with a multidisciplinary approach to the patient (collaboration of the Departments of Oncology, Urology, Pathology, Radiology, and Medical Genetics Laboratory). We recruited healthy males, relatives of families of women with breast or ovarian cancer who tested positive for pathogenic variants (PVs) or likely pathogenic variants (LPVs) in DRGs. A dedicated PCa screening was designed and offered to men aged 35 to 69 years, based on early visits with digital rectal examination (DRE), prostate health index (PHI) measurement, multiparametric magnetic resonance imaging (mpMRI) and, if necessary, targeted/systematic prostate biopsies. The primary endpoint was to evaluate the willingness of healthy men from families with a DRG variants detected in female relatives affected with breast and/or ovarian cancer to be tested for the presence of familial PVs. The secondary endpoints were the acceptance to participate if resulted positive and compliance with the screening programme. Over 1256 families, of which 139 resulted positive for PVs in DRGs, we identified 378 'healthy' men aged between 35 and 69 years old. Two hundred sixty-one (69.0%) refused to be tested for DRG variants, 66 (17.5%) declared to have been previously tested, and 51 (13.5%) males were interested to be tested. Between those previously tested and those who accepted to be tested, 62 (53.0%) were positive for a DRG variant, and all of them accepted to participate in the subsequent surveillance steps. The main limitation is that is a single-centre study and a short follow-up. All men tested positive for a DRG variants agreed to go under the surveillance scheme. However, only 31% of 'men at risk' (i.e., relative of a DRG variant carrier) expressed their willingness to be tested for the familial DRG variant. This observation strongly supports the urgent need to implement awareness of genetic risk for PCa within the male population.

ORGANIZATIONAL PRINCIPLES OF THE USE OF FORENSIC DNA ANALYSIS IN THE INVESTIGATION OF CRIMINAL OFFENSES

This article studies organizational principles of forensic DNA analysis as the area of practical activities in the field of detection and investigation of criminal offenses. The author defined the list of organizational principles of forensic DNA analysis, disclosed their content, and determined the conditions for implementation in Ukraine. It was established that these principles are: legality, that is, strict compliance with the requirements of the law at all stages of collecting and researching biological material, using and storing genomic information; an exclusively procedural form of using DNA analysis in criminal proceedings; proper functioning of forensic accounting of human genomic information; formation of DNA analysis as a separate section of forensic technology; its organizational and technical support, which primarily involves the accreditation of forensic genetics laboratories according to the European quality standard and compliance with the conditions regarding technical equipment and personnel support. It is substantiated that the implementation of these principles necessitates the need to take a number of regulatory and organizational measures at the national level to ensure at least the minimum conditions for the effective use of forensic DNA analysis technologies, namely: to improve legal norms at least in the aspect of regulation of procedures for obtaining biological material, management of DNA databases and protection of genomic information; determine exclusively the procedural form of using DNA analysis in the criminal process, regulating, in addition to molecular genetic examination, verification studies; to intensify scientific research in the field of criminalistics in the direction of DNA analysis and to introduce relevant topics into educational programs for the training of lawyers and law enforcement officers; to coordinate the work of various DNA analysis laboratories in the context of their accreditation, technical equipment with compatible equipment and personnel training.

Characterization, Expression, and Ligand Binding of LGP2 and MDA5 in Largemouth Black Bass Micropterus salmoides (Lacepède, 1802)

Melanoma differentiation-associated gene 5 (MDA5) and the laboratory of genetics and physiology 2 (LGP2) are family members of retinoic acid-inducible gene I (RIG-I)-like receptors (RLRs), which play important roles in the immune response against pathogens invasion. In the present study, MDA5 and LGP2 genes were identified in largemouth bass (Micropterus salmoides), a fish species with a great economic value. The two proteins contained similar conserved domains and motifs as their counterparts of other vertebrates, including the DExDc domain (the DEAD/DEAH box helicases domain), HELICc domain (helicases superfamily domain), and regulatory domain (RD). Real-time qPCR revealed that the two genes were constitutively expressed in tissues of healthy fish and could be induced in the spleen by polyinosinic and polycytidylic acid (polyI:C) challenge in vivo. Also, selective pressure analysis revealed that the negative selection had roles in the evolutions of the two genes. Furthermore, the dsRNA binding mechanism of msLGP2 and msMDA5 were analyzed by the molecular docking strategy. The amino acids of msLGP2 involved in dsRNA binding were V604, N663, L682, and L684, which were located in the regulatory domain (RD) of msLGP2. The amino acids of msMDA5 involved in dsRNA binding were G429, H434, L842, and L845, which were located in the DExDc domain and the RD domain of msMDA5. These results indicated that fish LGP2 and MDA5 might share similar functions and ligand binding mechanism as their mammalian counterparts.

New frontiers in linguistic research: Eliminating the challenges of understanding the genetics of language through bioinformatics

Abstract The contemporary research in linguistics aims to forge an understanding of consilience by evading the stereotypic semantic studies in linguistics. Modern linguistics calls for understanding language evolution, language production, and language disorders in association with neuro-genetic studies. To undertake genetic trials, language scholars from the humanities and social sciences disciplines have constraints like funding, inaccessibility to genetic labs, and ethical issues over biological bodies. To resolve the constraints and to enhance extensive knowledge on the genetic association with language, this article employs bioinformatics tools, namely the Basic Local Alignment Search Tool (BLAST) and the Sorting Intolerant From Tolerant (SIFT). Through the BLAST tool, the article aids the language researcher to understand language evolution, and through the application of SIFT, the article highlights mutation points in the gene of a severe speech disorder. Finally, the article emphasizes the inclusion of bioinformatics in the field of humanities and social sciences with respect to language studies

Role of CIV NS1 Protein in Innate Immunity and Viral Replication.

The innate immune pathway serves as the first line of defense against viral infections and plays a crucial role in the host's immune response in clearing viruses. Prior research has indicated that the influenza A virus has developed various strategies to avoid host immune responses. Nevertheless, the role of the NS1 protein of the canine influenza virus (CIV) in the innate immune pathway remains unclear. In this study, eukaryotic plasmids of NS1, NP, PA, PB1, and PB2 were constructed, and it was found that these proteins interact with melanoma differentiation-associated gene 5 (MDA5) and antagonize the activation of IFN-β promoters by MDA5. We selected the NS1 protein for further study and found that NS1 does not affect the interaction between the viral ribonucleoprotein (RNP) subunit and MDA5, but that it downregulates the expression of the laboratory of genetics and physiology 2 (LGP2) and retinoic acid-inducible gene-I (RIG-I) receptors in the RIG-I pathway. Additionally, NS1 was found to inhibit the expression of several antiviral proteins and cytokines, including MX dynamin like GTPase 1 (MX1), 2'-5'oligoadenylate synthetase (OAS), Signal Transducers and Activators of Transcription (STAT1), tripartite motif 25 (TRIM25), interleukin-2 (IL-2), IFN, IL-8, and IL-1β. To further investigate the role of NS1, a recombinant H3N2 virus strain (rH3N2) and an NS1-null virus (rH3N2ΔNS1) were rescued using reverse-genetic technology. The rH3N2ΔNS1 virus exhibited lower viral titers compared to rH3N2, but had a stronger activation effect on the receptors LGP2 and RIG-I. Furthermore, when compared to rH3N2, rH3N2ΔNS1 exhibited a more pronounced activation of antiviral proteins such as MX1, OAS, STAT1, and TRIM25, as well as antiviral cytokines such as IL-6, IFN-β, and IL-1β. These findings suggest a new mechanism by which NS1, a nonstructural protein of CIV, facilitates innate immune signaling and provides new avenues for the development of antiviral strategies.

Partitioning for Easy Multiplexing: A Versatile Droplet PCR Application for Clone Monitoring in Tumors

Clinical genome-wide next-generation sequencing (NGS) has brought new challenges to genetic laboratories. The identification of numerous patient-specific variants that may require to be screened for on multiple other samples poses an issue when striving for time and cost-effectiveness. Here, we propose d-multiSeq, a straightforward method utilizing the advantages of droplet PCR for multiplexing combined with amplicon-based NGS. By comparing d-multiSeq with a standard multiplex amplicon-based NGS, it was shown that partitioning prevents the amplification competition seen when multiplexing and leads to a homogeneous representation of each target in the total read count for up to a 40-target multiplex without the need for prior adjustment. Variant allele frequency was reliably evaluated with a sensitivity of 97.6% for variant allele frequency up to 1%. The applicability of d-multiSeq was also tested on cell-free DNA with the successful amplification of an eight-target multiplex panel. Preliminary application of the technique to assess the clonal evolution in a childhood leukemia harboring high interpatient variability in its somatic variants is shown. d-multiSeq represents a turnkey solution for analyzing large sets of patient-specific variants on low DNA amounts and cell-free DNA.

Comparison of two methods for DNA extraction from Guava (Psidium guajava)

Psidium guajava is well known tropical tree which is abundantly grown for fruit. This fruit plant is consumed as food and folk medicine in sub-tropical areas worldwide due to its pharmacological activities. Guava finds a very important place in medical systems almost worldwide. This study was conducted in 2022 at the genetic lab, University of Limpopo to compare two different extraction methods for DNA from guava. The DNA from the guava was extracted using Chelex "method 1" (overnight incubation at 56°C) and "method 2" (Ten-minute incubation at 95°C) from the fresh leaves of the guava. The quantitative and qualitative parameters were measured using a spectrophotometer. PCR reactions with primers for 28S were used on all samples to confirm and evaluate the extracted DNA. The results showed that the highest quality of extracted DNA was in "method 2" (1.68-1.82). The quantitative and qualitative tests for PCR reaction showed that the DNA extracted using "method 2" had a better quality of DNA than "method 1". In conclusion, both methods worked, but method two showed better results.

Biodegradable Plastics: Biodegradation Percentage and Potential Microplastic Contamination in Seawater

Increasing plastic production, which causes the problem of plastic garbage polluting the oceans, has increased the use of biodegradable plastics to address the problem. However, it is still debatable how much microplastic contamination it can cause. So, this study aims to determine the proportion of biodegradable plastics in the marine environment, identify the microplastics it produces, and analyze the relationship between the two. Seawater sampling is located in the Bangka Strait. The research was conducted in the Genetics and Biotechnology Laboratory, Department of Biology, Sriwijaya University. The biodegradable plastic test material used was made from a mixture of polyhydroxyalkanoates (PHA) and starch. Biodegradation test method using standard ASTM D6691-17 with respirometry system design. The stage of microplastic identification is carried out through filtration with a 4.75 mm-size filter; density separation using ZnCl2 solution and Whatman No. 1 filter paper; as well as visual observation of microplastics under a microscope. last Pearson Correlation analysis with bootstrap to see the relationship of the percentage of biodegradation with microplastics. The results obtained in this study were the percentage of biodegradable plastic (26.5±1.4%) and positive control kraft paper (33.2±4.2%) for 70 days, which produced 9 microplastic particles from biodegradable plastic with fragment and film types. Correlation analysis concluded that there was no relationship between the percentage of biodegradation and the microplastics produced.

Introducing the New Editorial Team

Introducing the New Editorial Team

Grouper annexin A2 affects RGNNV by regulating the host immune response.

Annexin A2 (AnxA2) is ubiquitous in vertebrates and has been identified as a multifunctional protein participating in a series of biological processes, such as endocytosis, exocytosis, signal transduction, transcription regulation, and immune responses. However, the function of AnxA2 in fish during virus infection still remains unknown. In this study, we identified and characterized AnxA2 (EcAnxA2) in Epinephelus coioides. EcAnxA2 encoded a 338 amino acid protein with four identical annexin superfamily conserved domains, which shared high identity with other AnxA2 of different species. EcAnxA2 was widely expressed in different tissues of healthy groupers, and its expression was significantly increased in grouper spleen cells infected with red-spotted grouper nervous necrosis virus (RGNNV). Subcellular locatio n analyses showed that EcAnxA2 diffusely distributed in the cytoplasm. After RGNNV infection, the spatial distribution of EcAnxA2 was unaltered, and a few EcAnxA2 co-localized with RGNNV during the late stage of infection. Furthermore, overexpression of EcAnxA2 significantly increased RGNNV infection, and knockdown of EcAnxA2 reduced RGNNV infection. In addition, overexpressed EcAnxA2 reduced the transcription of interferon (IFN)-related and inflammatory factors, including IFN regulatory factor 7 (IRF7), IFN stimulating gene 15 (ISG15), melanoma differentiation related gene 5 (MDA5), MAX interactor 1 (Mxi1) laboratory of genetics and physiology 2 (LGP2), IFN induced 35 kDa protein (IFP35), tumor necrosis factor receptor-associated factor 6 (TRAF6) and interleukin 6 (IL-6). The transcription of these genes was up-regulated when EcAnxA2 was inhibited by siRNA. Taken together, our results showed that EcAnxA2 affected RGNNV infection by down-regulating the host immune response in groupers, which provided new insights into the roles of AnxA2 in fish during virus infection.

From Genetic Laboratory to the Genetic Clinic - Opportunities and Challenges: An Illustrated Review

From Genetic Laboratory to the Genetic Clinic - Opportunities and Challenges: An Illustrated Review

Simplified COI barcoding of blow, flesh, and scuttle flies encountered in medicolegal investigations.

Accurate insect identification is critical to the estimation of time of colonization (TOC) and post-mortem interval (PMI) in medicolegal death investigations. DNA testing is advantageous because it enables the identification of immature specimens that may not be identified based on morphology alone. We describe here a simplified DNA barcoding method for identifying relevant species that may be implemented by forensic genetics laboratories. A cytochrome oxidase (COI) fragment is analyzed after PCR amplification with a single primer set. The method is effective for many species commonly encountered in death investigations in the USA: members of blowfly genera Calliphora, Chrysomya, Cochliomyia, Lucilia, and Phormia; members of the flesh fly genera Blaesoxipha, Oxysarcodexia, Ravinia, and Sarcophaga; and the scuttle fly Megaselia scalaris. We tested the method on specimens with verified identifications and used it to build a collection of reference sequences from specimens collected in Harris County, Texas. We show here the correct identification of larvae, pupae, and pupal exuviae from the medicolegal casework.

Barriers to Genetic Testing in Vascular Malformations

Vascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistical barriers to obtaining genetic testing in patients with VM may constrain treatment options. To examine the institutional mechanisms for and obstacles to obtaining genetic testing for VM. This survey study invited members of the Pediatric Hematology-Oncology Vascular Anomalies Interest Group, representing 81 vascular anomaly centers (VACs) serving individuals up to 18 years of age, to complete an electronic survey. Respondents were mostly pediatric hematologists-oncologists (PHOs) but included geneticists, genetic counselors, clinic administrators, and nurse practitioners. Responses that were received between March 1 and September 30, 2022, were analyzed with descriptive methods. Requirements for genetic testing by several genetics laboratories were also reviewed. Results were stratified by size of the VAC. Vascular anomaly center and associated clinician characteristics and practice patterns for ordering and obtaining insurance approval for genetic testing for VMs were collected. Responses were received from 55 of 81 clinicians, for a response rate of 67.9%. Most respondents were PHOs (50 [90.9%]). Most respondents (32 of 55 respondents [58.2%]) replied that they order genetic testing on 5 to 50 patients per year and reported a genetic testing volume increase of 2- to 10-fold over the past 3 years (38 of 53 respondents [71.7%]). Most testing was ordered by PHOs (35 of 53 respondents [66.0%]), followed by geneticists (28 [52.8%]) and genetic counselors (24 [45.3%]). In-house clinical testing was more common at large and medium-sized VACs. Small VACs were more likely to use oncology-based platforms, which potentially miss low-frequency allelic variants in VM. Logistics and barriers varied by size of the VAC. Obtaining prior authorization was the duty shared among PHOs, nurses, and administrative staff, but the burden of insurance denials and appeals were on PHOs (35 of 53 respondents [66.0%]). Lack of administrative support; unclear institutional, insurance, and laboratory requirements; and lack of clinician education were barriers to genetic testing at VACs of all sizes. The effort to obtain genetic testing for patients with VM, compared with patients with cancer, was perceived as excessive, despite genetic testing being considered standard of care for this population. Results of this survey study showed the barriers to genetic testing for VM across VACs, described differences between VACs based on size, and proposed multiple interventions to support clinicians ordering genetic testing for VM. The results and recommendations should have broader application to clinicians caring for patients for whom molecular diagnosis is important to medical management.

C82 CARDIOMYOPATHIES AND GENETICS: ACTIVATION OF A SHARED PATH. INSIGHTS FROM CUNEO HOSPITAL

Abstract Introduction In the last few years, genetic investigation has become an active part of the diagnostic and therapeutic pathway of cardiological patients with cardiomyopathies. Genetic investigation assumes a key role in the clinical–decision–making process of the proband acquiring a potential role in changing clinical action. Patients referred for genetic screening are affected by hypertrophic, arrhythmogenic and dilated cardiomyopathy. In the dilated form it is now a well–established notion that some mutations are associated with increased arrhythmic risk, regardless of the ejection fraction. This link was implemented by the 2022 ESC guidelines on ventricular arrhythmias, these patients can in fact benefit from a more aggressive therapeutic approach for the purpose of preventing sudden death. Methods and results In 2022 a diagnostic process was activated in collaboration with the genetics laboratory. Twenty–two patients underwent genetic examination and genetic testing. Of these, 61% were patients with hypertrophic cardiomyopathy, 22% with dilated cardiomyopathy, 11% with arrhythmogenic cardiomyopathy and 6% with Fabry disease. Two HCM patients have mutations in the MYBPC3 gene. A patient with Fabry has an exonic mutation in the GLA gene associated with the late onset phenotype. Two patients have a negative NGS panel and one patient has a mutation of uncertain significance (VUS) in TTN. In the remaining genetic analysis is ongoing. Conclusions We believe, as clinical cardiologist who deal with the field of cardiomyopathies, in the importance to acquire an integrated vision where genetic diagnosis is added alongside the traditional tools of cardiological expertise, as a risk stratification tool and as an additional element of the decision–making process.

The Revolution of Animal Genomics in Forensic Sciences.

Nowadays, the coexistence between humans and domestic animals (especially dogs and cats) has become a common scenario of daily life. Consequently, during a forensic investigation in civil or criminal cases, the biological material from a domestic animal could be considered "evidence" by law enforcement agencies. Animal genomics offers an important contribution in attacks and episodes of property destruction or in a crime scene where the non-human biological material is linked to the victim or perpetrator. However, only a few animal genetics laboratories in the world are able to carry out a valid forensic analysis, adhering to standards and guidelines that ensure the admissibility of data before a court of law. Today, forensic sciences focus on animal genetics considering all domestic species through the analysis of STRs (short tandem repeats) and autosomal and mitochondrial DNA SNPs (single nucleotide polymorphisms). However, the application of these molecular markers to wildlife seems to have gradually gained a strong relevance, aiming to tackle illegal traffic, avoid the loss of biodiversity, and protect endangered species. The development of third-generation sequencing technologies has glimmered new possibilities by bringing "the laboratory into the field", with a reduction of both the enormous cost management of samples and the degradation of the biological material.

A comparison of five DNA extraction methods from degraded human skeletal remains

Extracting DNA from degraded human remains poses a challenge for any forensic genetics laboratory, as it requires efficient high-throughput methods. While little research has compared different techniques, silica in suspension has been identified in the literature as the best method for recovering small fragments, which are often present in these types of samples. In this study, we tested five DNA extraction protocols on 25 different degraded skeletal remains. Including the humerus, ulna, tibia, femur, and petrous bone. The five protocols were organic extraction by phenol/chloroform/isoamyl alcohol, silica in suspension, High Pure Nucleic Acid Large Volume silica columns (Roche), InnoXtract™ Bone (InnoGenomics), and PrepFiler™ BTA with AutoMate™ Express robot (ThermoFisher). We analysed five DNA quantification parameters (small human target quantity, large human target quantity, human male target quantity, degradation index, and internal PCR control threshold), and five DNA profile parameters (number of alleles with peak height higher than analytic and stochastic threshold, average relative fluorescence units (RFU), heterozygous balance, and number of reportable loci) were analysed. Our results suggest that organic extraction by phenol/chloroform/isoamyl alcohol was the best performing method in terms of both quantification and DNA profile results. However, Roche silica columns were found to be the most efficient method.

Differential regulation of ATP hydrolysis of RIG-I-like receptors by transactivation response RNA-binding protein.

Retinoic acid inducible gene (RIG)-I-like receptors (RLRs), including RIG-I, melanoma differentiation associated-5 (MDA5), and laboratory of genetics and physiology 2 (LGP2), play pivotal roles in viral RNA sensing to initiate antiviral interferon (IFN) responses. We previously reported that an RNA-silencing regulator, transactivation response RNA-binding protein (TRBP), up-regulates MDA5/LGP2-mediated IFN responses through interaction with LGP2. Here, we aimed to investigate the mechanism underlying the TRBP-mediated up-regulation of IFN response. Data indicated that phosphomimetic TRBP showed a modest effect, whereas the nonphosphorylated form exhibited hyperactivity in enhancing Cardiovirus-triggered IFN responses. These results suggest that encephalomyocarditis virus (EMCV) attenuates the TRBP-mediated IFN response via TRBP phosphorylation, since EMCV infection activates the kinase responsible for TRBP phosphorylation for virus replication. Furthermore, we found that TRBP-mediated up-regulation of IFN response required the ATP hydrolysis and RNA binding of LGP2. TRBP enhanced RNA-dependent ATP hydrolysis by LGP2 but not that by RIG-I or MDA5. Nonphosphorylated TRBP exhibited higher levels of activity than phosphomimetic TRBP did, suggesting its possible involvement in the mechanism underlying the up-regulation of IFN response. TRBP activated the ATP hydrolysis of LGP2 and RIG-I, but not that of MDA5, in the absence of RNA. Collectively, we showed that TRBP differentially regulated RLR-mediated ATP hydrolysis. Further elucidation of the mechanism underlying the regulation of ATP hydrolysis leading to IFN response and self- and non-self-RNA discrimination could advance the development of effective therapeutic agents against autoimmune diseases.

Down syndrome: Experience of the medical genetics laboratory of Ibn Rochd University Hospital of Casablanca

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Estimation of genetic parameters for IPB genotype chilli (Capsicum annuum L.) resistant to begomovirus in Aceh

Begomovirus is a virus that infected chili plants that could result in a big loss. Begomovirus control is more effective by using resistant varieties. Resistant chili varieties were produced by evaluating chili plants resistance against Begomovirus infection. This study aims to determine the effective parameters for the selection of chili plants resistance against Begomovirus infection and to determine the genotype of curly chili plants that are resistant to Begomovirus infection. This research was conducted at Experimental Garden 2 and Laboratory of Genetics and Plant Breeding, Faculty of Agriculture, Syiah Kuala University from November 2020 until June 2021. The planting material consisted of five genotypes, which is F10 120005-120-7-1-7-8-1-21-2, F10 120005-241-2-9-4-4-1-1, F10 120005-141-16-35-1-4-3-7, F10 120005-141-16-35-1-3-2-5, F10 120005-141-16-35-7-1-3-2 and odeng variety. This study was designed with a non-factorial randomized block design with three repetition continued with the LSD test if the analysis variance was significant. This study used data analysis using genetic variance and heritability values data. This study used the score or symptom type, disease intensity and incubation period as variables to measure chilli resistance to Begomovirus. The disease intensity variable is the most effective variable for the selection of chili resistance against Begomovirus infection based on broad-meaning heritability. Base on score or symptom type, disease intensity and incubation period variables, most resistant genotypes among the sample plant are genotypes F10 120005-120-7-1-7-8-1-21-2 and F10 120005-141-16-35-1-4-3-7 with disease intensity rate consecutively 15.88% and 13.79%.