AI Article Synopsis
- Genetic changes in the HPRT1 gene lead to the development of Lesch-Nyhan syndrome (LNS) through altered dopamine neurotransmitter expression and abnormal neuron function.
- The study investigates codon usage bias (CUB) in the HPRT1 gene across twelve mammalian species, finding that A/T ending codons are most common and that higher ENC values suggest lower gene expression.
- Results indicate that compositional constraints under mutation pressure influence CUB in HPRT1, while also showing purifying selection helps maintain protein function through evolutionary processes.
Article Abstract
Genetic changes in Hypoxanthine guanine phosphoribosyltransferace (HPRT1) gene can alter the expression of the dopamine neurotransmitter leads to abnormal neuron function, a disease called Lesch-Nyhan syndrome (LNS). Although different studies were conducted on LNS, information on codon usage bias (CUB) of HPRT1 gene is limited. The present study examines the genetic determinants of CUB in HPRT1 gene using twelve mammalian species. In the coding sequence of HPRT1 genes, A/T ending codons was most frequently used. A higher ENC value was observed indicating lower HPRT1 gene expression in the selected mammalian species. Correlation analysis indicates that compositional constraints under mutation pressure can involve in CUB of HPRT1 genes among the selected mammalian species. Relative synonymous codon usage (RSCU) value revealed that the codons such as ACT, AGG, ATT and AGC were over-represented in each of the mammalian species. Result from the analysis of the RSCU indicates that compositional constraint is a key driver for the variation in codon usage. Ratio of nonsynonymous (dN) and synonymous (dS) substitution further suggested that purifying selection occurs among the HPRT1 gene of studied mammals to maintain its protein function under the process of evolution. Our findings report an insight into the codon usage patterns of HPRT1 gene and will be useful for LNS management.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ygeno.2019.02.010 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Diagnostics (Basel)
December 2024
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Background: Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center.
View Article and Find Full Text PDFand Are Appropriate Reference Genes for Splenic Neutrophils Isolated from Healthy or Tumor-Bearing Mice.
Biomedicines
November 2024
Institute of Chemical Biology and Fundamental Medicine SB RAS, Lavrentiev Ave., 8, Novosibirsk 630090, Russia.
/: Neutrophils have recently gained significant attention due to their heterogeneity in tumor settings. The gene expression profiles of neutrophils from different tumor types are of great interest. Murine splenic neutrophils reflect the immune status of the organism and could be a source of tumor-associated neutrophils in tumor-bearing mice.
View Article and Find Full Text PDFIntegrated analysis of single-cell, spatial and bulk RNA-sequencing identifies a cell-death signature for predicting the outcomes of head and neck cancer.
Front Immunol
November 2024
Institute of Immunology, People's Liberation Army (PLA), Third Military Medical University, Chongqing, China.
Background: Cell death plays an essential role in carcinogenesis, but its function in the recurrence and postoperative prognosis of head and neck cancer (HNC), which ranks as the 7 most common malignancy globally, remains unclear.
Methods: Data from five main subtypes of HNC related single-cell RNA sequencing (scRNA-seq) were recruited to establish a single-cell atlas, and the distribution of cell death models (CDMs) across different tissues as well as cell subtypes were analyzed. Bulk RNA-seq from the Cancer Genome Atlas Program (TCGA) dataset was subjected to a machine learning-based integrative procedure for constructing a consensus cell death-related signature risk score (CDRscore) model and validated by external data.
Identification of copper metabolism-related markers in Parkinson's disease.
Ann Med
December 2024
Department of Neurology, Liaocheng People's Hospital, Shandong University, Jinan, P.R. China.
Objectives: This study aimed to identify key genes related to copper metabolism in Parkinson's disease (PD), providing insight into their roles in disease progression.
Methods: Using bioinformatic analyses, the study identified hub genes related to copper metabolism in PD patients. Differentially expressed genes (DEGs) were identified using the limma package, and copper-metabolism-related genes (CMRGs) were sourced from the Genecard database.
Effect of PI3-kinase inhibitors on DNA double strand break repair pathways: observations using a site specific DSB induction system.
Radiat Prot Dosimetry
November 2024
Department of Biological Sciences, Ibaraki University, Bunkyo 2-1-1, Mito 310-8512, Ibaraki, Japan.
Article Synopsis
- One system used a zinc finger nuclease to target the human HPRT1 gene for mutation assays, while the other allowed for analysis of homology-directed repair (HR) in a specific cell line.
- Our findings suggest that inhibiting ATM kinase decreases mutation frequency but increases HR frequency, indicating that ATM activity may help regulate DSB repair pathways.
Want 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!