DPYS

Last update 08 May 2025

Basic Info

Synonyms

DHP, DHPase, dihydropyrimidinase

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Introduction

Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.

100 Clinical Results associated with DPYS

100 Translational Medicine associated with DPYS

0 Patents (Medical) associated with DPYS

782

Literatures (Medical) associated with DPYS

04 Apr 2025·Current Protein & Peptide Science

Unveiling the Role of DPYS: A New Prognostic Biomarker in Sarcoma

Article

Author: Lyu, Guizhen ; Li, Dongbing

Background:Dihydropyrimidinase (DPYS), a pivotal enzyme in the pyrimidine synthesis pathway, has been increasingly studied for its potential role in cancer therapy. While its presence has been noted in various cancers, its specific impact on sarcoma (SARC) still needs to be fully understood.Objective:This study sought to explore the correlation between DPYS expression and SARC, utilizing data from The Cancer Genome Atlas (TCGA), bioinformatics tools, and experimental validation.objective:This study sought to explore the correlation between DPYS expression and SARC, utilizing data from The Cancer Genome Atlas (TCGA), bioinformatics tools, and experimental validation.Methods:The study employed statistical analysis and logistic regression to assess the link between DPYS expression levels and clinical features in SARC patients. Survival analysis was conducted using the Kaplan-Meier method and Cox regression, evaluating the prognostic significance of DPYS expression. Gene set enrichment analysis and immuno-infiltration analysis were conducted to uncover the potential regulatory mechanisms of the DPYS gene. We validated the expression of DPYS using GSE17674. Quantitative reverse transcription PCR was utilized to measure DPYS expression levels in SARC cell lines.Results:The study found that reduced DPYS expression in SARC correlated with therapeutic response (P = 0.011), histological subtype (P = 0.003), and the presence of residual tumor (P = 0.043). Reduced DPYS expression was a predictor of inferior Overall Survival (OS), with a Hazard Ratio (HR) of 0.56 and a 95% Confidence Interval (CI) of 0.37-0.84 (P = 0.005), as well as Disease-Specific Survival (DSS), with an HR of 0.64 and a 95% CI of 0.41-1.00 (P = 0.048). DPYS expression was also identified as an independent factor for OS in SARC (HR: 0.335; 95% CI: 0.169-0.664; P = 0.002). The gene was associated with various pathways, including GPCR ligand binding, signaling by interleukins, G alpha (i) signaling events, Class A/1 Rhodopsin-like receptors, cytokine-cytokine receptor interaction, and platelet activation. DPYS expression also showed a correlation with certain immune cell infiltrates and was found to be significantly downregulated in SARC cell lines.Conclusion:DPYS may serve as a potential prognostic biomarker and therapeutic target for SARC.

01 Apr 2025·Journal of Dairy Science

Epidemiological and genetic factors affecting severe epizootic hemorrhagic disease in Spanish Holstein cattle during the Southern Europe outbreak of 2023

Article

Author: González-Recio, O ; Fernández, A ; Jiménez Montero, J A

Epizootic hemorrhagic disease (EHD) is a noncontagious viral infection that can cause important economic losses on dairy farms. This study aimed to identify epidemiological and genetic factors influencing the susceptibility and severity of EHD in Holstein dairy cattle during the 2023 outbreak in Spain. Data from 2,852 animals in 7 affected farms from 5 Spanish provinces were used. Symptoms were categorized in 5 categories: no symptoms, mild symptoms, severe symptoms and recovery, severe symptoms with aftereffects (sequelae), and severe symptoms followed by death. All animals were genotyped using the Illumina EuroG MD SNP array, and imputation to whole-genome sequencing was carried out using the 1,000 bull genomes dataset as a reference. Risk factors for EHD were explored using linear mixed effects models, as well as the loss of milk yield and culling risk probability due to severe EHD. In all, ∼66% of animals showed EHD virus antibodies, although only 25% of the sample in this study showed severe symptoms, and the death rate was 2% to 3%. Results indicated that age was the main risk factor for severe EHD, with older cows showing greater susceptibility. Production losses were significant in cows with moderate to severe symptoms, especially if the outbreak occurred mid lactation (up to -9 kg/d). Cows exhibiting severe symptoms demonstrated a markedly increased likelihood of being culled, with an odds ratio of 10.86 (95% CI: 6.08-19.41) for cows with severe symptoms. The genetic component of EHD was evaluated using REML procedures, and a GWAS was conducted to investigate genomic regions associated with the disease. An h² of 0.08 was estimated, with some genes (AOC1, BST1, CD38, DPP6, DPYS, HOGA1, KMT2C, PIK2A, PIK3, and PI4K2A) associated with the disease showing involvement in immunity processes and the development of the pulmonary tree. This study underscores the genetic and epidemiological factors influencing EHD severity in dairy cattle, providing insights for managing future outbreaks and mitigating economic losses in affected regions.

06 Jan 2025·Laboratory Medicine

Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy

Article

Author: Gunatilleke, Senaka ; Schroder, Sabine ; Beetz, Christian ; Fernando, Pitipanage Mihika Samindi ; Pereira, Catarina ; Mohideen, Shifaniya Banu ; Jasinge, Eresha ; Rathnayake, Pyara

AbstractWe report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis of dihydropyrimidinase (DPYS) deficiency was suspected following the analysis of urine for organic acid; DPYS deficiency was strongly suggested by the presence of dihydrouracil, thymine, and uracil. Subsequent genetic evaluation by whole exome sequencing revealed 2 separate mutations, homozygous pathogenic variant c.1010T>C p.Leu337Pro of the DPYS gene, resulting in DPYS deficiency, and homozygous pathogenic variant c.535C>T p.Arg179* of TBX19 gene, which is associated with autosomal recessive congenital isolated adrenocorticotrophic hormone deficiency. Currently, the patient is 2 years old, and he has gross motor retardation and seizure disorder. We suggest that the clinical phenotype of the proband can be a result of mixed expression of both mutations.

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