Endogenous retroviruses (ERVs) are involved in autoimmune diseases such as type 1 diabetes (T1D). ERV gene products homologous to murine leukemia retroviruses are expressed in the pancreatic islets of NOD mice, a model of T1D. One ERV gene, Gag, with partial or complete open reading frames (ORFs), is detected in the islets, and it contains many sequence variants. An amplicon deep sequencing analysis was established by targeting a conserved region within the Gag gene to compare NOD with T1D-resistant mice or different ages of prediabetic NOD mice. We observed that the numbers of different Gag variants and ORFs are linked to T1D susceptibility. More importantly, these numbers change during the course of diabetes development and can be quantified to calculate the levels of disease progression. Sequence alignment analysis led to identification of additional markers, including nucleotide mismatching and amino acid consensus at specific positions that can distinguish the early and late stages, before diabetes onset. Therefore, the expression of sequence variants and ORFs of ERV genes, particularly Gag, can be quantified as biomarkers to estimate T1D susceptibility and disease progression.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4049/jimmunol.2300660 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Discovery of a MET-driven monogenic cause of steatotic liver disease.
Hepatology
January 2025
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Background Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects about a third of adults worldwide and is projected soon to be the leading cause of cirrhosis. It occurs when fat accumulates in hepatocytes and can progress to metabolic dysfunction-associated steatohepatitis (MASH), liver cirrhosis, and hepatocellular carcinoma. MASLD pathogenesis is believed to involve a combination of genetic and environmental risk factors.
View Article and Find Full Text PDFFamilial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.
Cornea
January 2025
Department of Ophthalmology, Edith Wolfson Medical Center, Holon, Israel.
Purpose: To present 4 family members with posterior polymorphous corneal dystrophy (PPCD), nonkeratoconic steep corneas, and myopia caused by a previously unknown genetic alteration in the ZEB1 gene.
Methods: Ophthalmic examinations and corneal curvature analyses were performed for all patients. Whole-exome targeted gene panel sequencing was performed for 1 patient.
Sensitivity to Environmental Stress and Adversity and Lung Cancer.
JAMA Netw Open
January 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Importance: Sensitivity to environmental stress and adversity may influence lung cancer risk, highlighting a critical link between psychosocial factors and cancer etiology.
Objective: To evaluate whether genetically estimated sensitivity to environmental stress and adversity is associated with lung cancer risk.
Design, Setting, And Participants: Data were obtained from a genome-wide association study identifying 37 independent genetic variants strongly associated with sensitivity to environmental stress and adversity and a cross-ancestry genome-wide meta-analysis from the International Lung Cancer Consortium.
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy.
Epilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
pLM4CPPs: Protein Language Model-Based Predictor for Cell Penetrating Peptides.
J Chem Inf Model
January 2025
Department of Grain Science and Industry, Kansas State University, Manhattan, Kansas 66506, United States.
Cell-penetrating peptides (CPPs) are short peptides capable of penetrating cell membranes, making them valuable for drug delivery and intracellular targeting. Accurate prediction of CPPs can streamline experimental validation in the lab. This study aims to assess pretrained protein language models (pLMs) for their effectiveness in representing CPPs and develop a reliable model for CPP classification.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!