Genes, Vol. 15, Pages 541: The Satellite DNA PcH-Sat, Isolated and Characterized in the Limpet Patella caerulea (Mollusca, Gastropoda), Suggests the Origin from a Nin-SINE Transposable Element
In this study, we isolated and characterized a sat-DNA, here named PcH-sat, in the limpet Patella caerulea using the restriction enzyme method, particularly HaeIII. Monomeric units of PcH-sat are 179 bp long, AT-rich (58.7%), and with an identity among monomers ranging from 91.6 to 99.8%. Southern blot showed that PcH-sat is conserved in P. depressa and P. ulyssiponensis, while a smeared signal of hybridization was present in the other three investigated limpets (P. ferruginea, P. rustica and P. vulgata). Dot blot showed that PcH-sat represents about 10% of the genome of P. caerulea, 5% of that of P. depressa, and 0.3% of ...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Agnese Petraccioli Nicola Maio Rosa Carotenuto Gaetano Odierna Fabio Maria Guarino Tags: Article Source Type: research
Genes, Vol. 15, Pages 540: Characterization of the Apoptotic and Antimicrobial Activities of Two Initiator Caspases of Sea Cucumber Apostichopus japonicus
Li Sun
Caspase (CASP) is a protease family that plays a vital role in apoptosis, development, and immune response. Herein, we reported the identification and characterization of two CASPs, AjCASPX1 and AjCASPX2, from the sea cucumber Apostichopus japonicus, an important aquaculture species. AjCASPX1/2 share similar domain organizations with the vertebrate initiator caspases CASP2/9, including the CARD domain and the p20/p10 subunits with conserved functional motifs. However, compared with human CASP2/9, AjCASPX1/2 possess unique structural features in the linker region between p20 and p10. AjCASPX1, but not AjCASPX2, ...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Hanshuo Zhu Zihao Yuan Hang Xu Li Sun Tags: Article Source Type: research
Genes, Vol. 15, Pages 539: Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives
Lucia Rocco
Male fertility can be affected by oxidative stress (OS), which occurs when an imbalance between the production of reactive oxygen species (ROS) and the body’s ability to neutralize them arises. OS can damage cells and influence sperm production. High levels of lipid peroxidation have been linked to reduced sperm motility and decreased fertilization ability. This literature review discusses the most commonly used biomarkers to measure sperm damage caused by ROS, such as the high level of OS in seminal plasma as an indicator of imbalance in antioxidant activity. The investigated biomarkers inclu...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Filomena Mottola Ilaria Palmieri Maria Carannante Angela Barretta Shubhadeep Roychoudhury Lucia Rocco Tags: Review Source Type: research
miR-17-92a-1 cluster host gene: a key regulator in colorectal cancer development and progression
AbstractColorectal cancer (CRC), recognized among the five most prevalent malignancies and most deadly cancers, manifests multifactorial influences stemming from environmental exposures, dietary patterns, age, and genetic predisposition. Although substantial progress has been made in comprehending the etiology of CRC, the precise genetic components driving its pathogenesis remain incompletely elucidated. Within the expansive repertoire of non-coding RNAs, particular focus has centered on the miR-17-92a-1 cluster host gene (MIR17HG) and its associated miRNAs, which actively participate in diverse cellular processes and freq...
Source: Clinical and Experimental Medicine - April 25, 2024 Category: Research Source Type: research
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study
AbstractThe present prospective cohort study evaluated the prevalence of FSH-R receptor Asn680Ser and Ala307Thr among infertile Indian women and the correlation of these polymorphisms with ART outcomes. Total 804 infertile and 209 fertile controls were enrolled for FSH-R analysis. Correlation of different genotypes with ovarian reserve markers, IVF parameters, and cumulative live birth rates (CLBR) was done among women undergoing IVF. In fertile controls, at 680 position GG (Ser/Ser) was the most common genotype; but among infertile women, all the genotypes were equally distributed. There was no significant difference in o...
Source: Journal of Human Genetics - April 25, 2024 Category: Genetics & Stem Cells Source Type: research
Genes, Vol. 15, Pages 547: Statistical Genetic Approaches to Investigate Genotype-by-Environment Interaction: Review and Novel Extension of Models
iams-Blangero
Statistical genetic models of genotype-by-environment (G×E) interaction can be divided into two general classes, one on G×E interaction in response to dichotomous environments (e.g., sex, disease-affection status, or presence/absence of an exposure) and the other in response to continuous environments (e.g., physical activity, nutritional measurements, or continuous socioeconomic measures). Here we develop a novel model to jointly account for dichotomous and continuous environments. We develop the model in terms of a joint genotype-by-sex (for the dichotomous environment) and g...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Vincent P. Diego Eron G. Manusov Marcio Almeida Sandra Laston David Ortiz John Blangero Sarah Williams-Blangero Tags: Article Source Type: research
Genes, Vol. 15, Pages 546: Complete Chloroplast Genome of Krascheninnikovia ewersmanniana: Comparative and Phylogenetic Analysis
Zinian Wu
Krascheninnikovia ewersmanniana is a dominant desert shrub in Xinjiang, China, with high economic and ecological value. However, molecular systematics research on K. ewersmanniana is lacking. To resolve the genetic composition of K. ewersmanniana within Amaranthaceae and its systematic relationship with related genera, we used a second-generation Illumina sequencing system to detect the chloroplast genome of K. ewersmanniana and analyze its assembly, annotation, and phylogenetics. Total length of the chloroplast genome of K. ewersmanniana reached 152,287 bp, with 84 protein-coding genes, 36 tRNAs, and eight...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Peng Wei Youzheng Li Mei Ke Yurong Hou Abudureyimu Aikebaier Zinian Wu Tags: Article Source Type: research
Identifying latent genetic interactions in genome-wide association studies using multiple traits
AbstractThe"missing" heritability of complex traits may be partly explained by genetic variants interacting with other genes or environments that are difficult to specify, observe, and detect. We propose a new kernel-based method called Latent Interaction Testing (LIT) to screen for genetic interactions that leverages pleiotropy from multiple related traits without requiring the interacting variable to be specified or observed. Using simulated data, we demonstrate that LIT increases power to detect latent genetic interactions compared to univariate methods. We then apply LIT to obesity-related traits in the UK Bi...
Source: Genome Medicine - April 25, 2024 Category: Genetics & Stem Cells Source Type: research
“I am happy to be alive, but I prefer to have children without my chronic disease”: chronically ill persons’ views on reproduction and genetic testing for their own condition
Volume 43, Issue 1, December 2024 . (Source: New Genetics and Society)
Source: New Genetics and Society - April 25, 2024 Category: Genetics & Stem Cells Authors: Anika K önigStefan Reinscha Institute for Social and Cultural Anthropology, Freie Universität Berlin, Berlin, Germanyb Centre for Health Service Research, Faculty of Health Sciences Brandenburg & Department of Pediatrics at University Hospital Ruppin-B Source Type: research
Genes, Vol. 15, Pages 538: Colorectal Cancer: Genetic Underpinning and Molecular Therapeutics for Precision Medicine
ill
Colorectal cancer (CRC) accounts for about 10% of all cancer cases and 9% of cancer-related deaths globally. In the United States alone, CRC represents approximately 12.6% of all cancer cases, with a mortality rate of about 8%. CRC is now the first leading cause of cancer death in men younger than age 50 and second in women younger than age 50. This review delves into the genetic landscape of CRC, highlighting key mutations and their implications in disease progression and treatment. We provide an overview of the current and emerging therapeutic strategies tailored to individual genomic profiles. (Source: Genes)
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Gideon T. Dosunmu Ardaman Shergill Tags: Review Source Type: research
IJERPH, Vol. 21, Pages 530: A Mixed-Methods Evaluation of a Project ECHO Program for the Evidence-Based Management of Sickle Cell Disease
e Shook
Sickle cell disease (SCD) is a group of chronic, genetic disorders of the red blood cells with significant gaps in access to evidence-based clinical care. Sickle Treatment and Outcomes Research in the Midwest (STORM), a provider network, utilized Project ECHO (Extension for Community Health Outcomes), a telementoring model, to deliver evidence-based education about SCD management. The purpose of this mixed-methods study is to evaluate the utility of Project ECHO as an educational strategy for healthcare providers treating children and adults with SCD. Annual evaluations were administered to STORM TeleECHO parti...
Source: International Journal of Environmental Research and Public Health - April 25, 2024 Category: Environmental Health Authors: Cami Mosley Christina Bennett Farrell Charles T. Quinn Lisa Marie Shook Tags: Article Source Type: research
Genetic and microbial determinants of azoxymethane-induced colorectal tumor susceptibility in Collaborative Cross mice and their implication in human cancer
Volume 16, Issue 1, January-December 2024 . (Source: Gut Microbes)
Source: Gut Microbes - April 25, 2024 Category: Microbiology Authors: Dan LiChenhan ZhongMengyuan YangLi HeHang ChangNing ZhuSusan E CelnikerDavid W ThreadgillAntoine M SnijdersJian-Hua MaoYing Yuana Key Laboratory of Cancer Prevention and Intervention, China National Ministry of Education, Key Laboratory of Molecular Biolo Source Type: research
The role of biomarkers in the early detection of pancreatic cancer
AbstractPancreatic surveillance can detect early-stage pancreatic cancer and achieve long-term survival, but currently involves annual endoscopic ultrasound and MRI/MRCP, and is recommended only for individuals who meet familial/genetic risk criteria. To improve upon current approaches to pancreatic cancer early detection and to expand access, more accurate, inexpensive, and safe biomarkers are needed, but finding them has remained elusive. Newer approaches to early detection, such as using gene tests to personalize biomarker interpretation, and the increasing application of artificial intelligence approaches to integrate ...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
AbstractDespite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms in cluded ‘hereditary breast and ovarian cancer’ and ‘cascade genetic testing’ for studies published from 2012–2022. Through searching common databases, and manual search of referen...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
AbstractHereditary Cancer makes up around 5 –10% of all cancers. It is important to diagnose hereditary cancer in a timely fashion, as not only do patients require long-term care from a young age, but their relatives also require management. The main approach to capture at-risk relatives is cascade testing. It involves genetic testing of re latives of the first detected carrier of a pathogenic variant in a family i.e. the proband. The current standard of care for cascade testing is a patient-mediated approach. Probands are then advised to inform and encourage family members to undergo genetic testing. In Singapore, casca...
Source: Familial Cancer - April 25, 2024 Category: Cancer & Oncology Source Type: research
