A prognostic signature of five pseudogenes for predicting lower-grade gliomas.

Biomed Pharmacother

Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China; Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, China. Electronic address:

Published: September 2019

Background: A pseudogene is a gene copy that has lost its original coding ability. Pseudogenes participate in numerous biological processes including oncogenesis.

Objectives: We screened for prognostic pseudogenes for lower-grade glioma (LGG) and explored the potential molecular mechanisms.

Methods: LGG data downloaded from The Cancer Genome Atlas (TCGA) and the Chinese Glioma Genome Atlas (CGGA) databases were used as training and validation dataset, respectively. Univariate Cox proportional hazard regression was performed to identify pseudogenes with significant prognostic value. Robust likelihood-based survival model and LASSO regression were performed to screen for the most survival-relevant pseudogenes. A risk score model was constructed based on the prognostic pseudogenes to predict the prognosis of LGG patients.

Results: Five pseudogenes (PKMP3, AC027612.4, HILS1, RP5-1132H15.3 and HSPB1P1) were identified as prognostic gene-signatures. Using the risk score model established based on the five pseudogenes, LGG patients were stratified into distinct prognosis groups in both TCGA and CGGA datasets (P < 0.0001). Univariate and multivariate Cox regression analyses confirmed that the risk score generated from the model was an independent prognostic factor in LGG patients (p < 0.05). Furthermore, functional analysis revealed the potential biological mechanisms mediated by the five prognostic pseudogenes.

Conclusions: Five novel pseudogenes capable of predicting survival in LGG patients were identified. Our findings provide novel insights into the biological role of pseudogenes in LGG.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopha.2019.109116DOI Listing

Publication Analysis

Top Keywords

pseudogenes
8
prognostic pseudogenes
8
genome atlas
8
regression performed
8
risk score
8
score model
8
prognostic
5
prognostic signature
4
signature pseudogenes
4
pseudogenes predicting
4

Similar Publications

We are witnessing an ongoing global biodiversity crisis, and an increasing number of mammalian populations are at risk of decline. Species that have survived severe historic bottlenecks, such as the cheetah (Acinonyx jubatus) exhibit symptoms of inbreeding depression including reproductive and developmental defects. Although it has long been suggested that such defects stem from an accumulation of weakly deleterious mutations, the implications of such mutations leading to pseudogenization has not been assessed.

View Article and Find Full Text PDF

Genome-wide analyses of glutathione S-transferase gene family and expression profiling among three haplotypes Aphis gossypii.

Comp Biochem Physiol Part D Genomics Proteomics

January 2025

College of Plant Protection, Yangzhou University, Yangzhou 225009, Jiangsu, China. Electronic address:

Glutathione S-transferase (GST) plays a critical role in detoxifying various chemical compounds and is essential for host adaptation and pesticide resistance in insects. To understand the genetic structure of the GST family and the expression patterns among three haplotypes of Aphis gossypii, we conducted studies using genome annotation files and RNA-seq data. We identified 11 GSTs in A.

View Article and Find Full Text PDF

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Hum Genomics

January 2025

Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

View Article and Find Full Text PDF

Primary ciliary dyskinesia (PCD, OMIM 244400) is a rare genetic disorder that affects motile cilia and is characterised by impaired mucociliary clearance of the airway epithelium, which results in chronic upper and lower airway infections. While short-read next-generation sequencing technology has been used for the genetic testing of PCD, its effectiveness is limited in identifying variants in the gene because of the nearly identical pseudogene As we confirmed that the gene was not expressed in airway cells, we obtained nasal mucosa biopsy specimens for total RNA sequencing (RNA-seq) with library enrichment using exome oligos. Among the 34 nasal samples from patients suspected of having PCD, three aberrant splicing patterns in were identified in two samples.

View Article and Find Full Text PDF

A pseudogene is a non-functional copy of a protein-coding gene. Processed pseudogenes, which are created by the reverse transcription of mRNA and subsequent integration of the resulting cDNA into the genome, being a major pseudogene class, represent a significant challenge in genome analysis due to their high sequence similarity to the parent genes and their frequent absence in the reference genome. This homology can lead to errors in variant identification, as sequences derived from processed pseudogenes can be incorrectly assigned to parental genes, complicating correct variant calling.

View Article and Find Full Text PDF

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!