Variations in the <i>PDCD6</i> Gene Are Associated with Increased Uterine Leiomyoma Risk in the Chinese

Zhang, Kui; Zhou, Bin; Shi, Shaoqing; Song, Yaping; Zhang, Lin

doi:10.1089/gtmb.2012.0461

Cited by 6 publications

(5 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two proteins from mEVs were predicted as potential surface markers of BC: programmed cell death protein 6 (PDCD6P) and small subunit processome component 20 (UTP20). PDCD6 is a pro-apoptotic protein contributing to T-cell receptor-, Fas-, and glucocorticoid-induced programmed cell death [76,77] as well as endoplasmic reticulum stress-induced apoptosis during organ formation [78,79]. PDCD6 expression was found to be upregulated in tumor tissue samples from lung, breast, colon, and ovarian cancers, which suggested that it may be involved in the maintenance of cellular viability [80][81][82].…”

Section: Discussionmentioning

confidence: 99%

Surface Proteome of Extracellular Vesicles and Correlation Analysis Reveal Breast Cancer Biomarkers

Hüttmann,

Li,

Poolsup

et al. 2024

Cancers

View full text Add to dashboard Cite

Breast cancer (BC) is the second most frequently diagnosed cancer and accounts for approximately 25% of new cancer cases in Canadian women. Using biomarkers as a less-invasive BC diagnostic method is currently under investigation but is not ready for practical application in clinical settings. During the last decade, extracellular vesicles (EVs) have emerged as a promising source of biomarkers because they contain cancer-derived proteins, RNAs, and metabolites. In this study, EV proteins from small EVs (sEVs) and medium EVs (mEVs) were isolated from BC MDA-MB-231 and MCF7 and non-cancerous breast epithelial MCF10A cell lines and then analyzed by two approaches: global proteomic analysis and enrichment of EV surface proteins by Sulfo-NHS-SS-Biotin labeling. From the first approach, proteomic profiling identified 2459 proteins, which were subjected to comparative analysis and correlation network analysis. Twelve potential biomarker proteins were identified based on cell line-specific expression and filtered by their predicted co-localization with known EV marker proteins, CD63, CD9, and CD81. This approach resulted in the identification of 11 proteins, four of which were further investigated by Western blot analysis. The presence of transmembrane serine protease matriptase (ST14), claudin-3 (CLDN3), and integrin alpha-7 (ITGA7) in each cell line was validated by Western blot, revealing that ST14 and CLDN3 may be further explored as potential EV biomarkers for BC. The surface labeling approach enriched proteins that were not identified using the first approach. Ten potential BC biomarkers (Glutathione S-transferase P1 (GSTP1), Elongation factor 2 (EEF2), DEAD/H box RNA helicase (DDX10), progesterone receptor (PGR), Ras-related C3 botulinum toxin substrate 2 (RAC2), Disintegrin and metalloproteinase domain-containing protein 10 (ADAM10), Aconitase 2 (ACO2), UTP20 small subunit processome component (UTP20), NEDD4 binding protein 2 (N4BP2), Programmed cell death 6 (PDCD6)) were selected from surface proteins commonly identified from MDA-MB-231 and MCF7, but not identified in MCF10A EVs. In total, 846 surface proteins were identified from the second approach, of which 11 were already known as BC markers. This study supports the proposition that Evs are a rich source of known and novel biomarkers that may be used for non-invasive detection of BC. Furthermore, the presented datasets could be further explored for the identification of potential biomarkers in BC.

show abstract

Section: Discussionmentioning

confidence: 99%

Surface Proteome of Extracellular Vesicles and Correlation Analysis Reveal Breast Cancer Biomarkers

Hüttmann,

Li,

Poolsup

et al. 2024

Cancers

View full text Add to dashboard Cite

show abstract

“…PDCD6 is a calcium-binding modulator associated with cell proliferation and death (38). Numerous studies have revealed that PDCD6 is associated with tumors; however, the underlying mechanism remains unclear (39)(40)(41)(42). Furthermore, one study demonstrated that overexpression of PDCD6 suppressed angiogenesis in vitro via the phosphatidylinositol 3-kinase/protein kinase mTOR/ribosomal protein S6 kinase B1 pathway (43).…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction

et al. 2018

View full text Add to dashboard Cite

Left ventricular noncompaction (LVNC) is an inherited cardiomyopathy involving numerous genes. To identify novel candidate causal mutations, a whole exome sequencing study was performed on a Chinese LVNC family. Exons of the most prevalent pathogenic genes of LVNC (myosin heavy chain 7 and actin, α‑cardiac muscle 1) were sequenced, although no mutations were identified. Following this, Burrows‑Wheeler Aligner, PICARD and Genome Analysis Toolkit (v.2.8) were used to analyze the exome sequencing data. Non‑silent single nucleotide variants (SNVs) that were identified in patients with LVNC, although not in the healthy individual, were investigated further using SNV prioritization via the integration of genomic data (SPRING) based on P‑values. Co‑expressed gene enrichment analysis was performed using Genotype Tissue Expression (GTEx) data in order to investigate the potential roles of the genes containing SNVs in the myocardium. In the Chinese LVNC family, seven novel SNVs were identified that were only present in patients with LVNC and annotated by SPRING with P<0.05. Among these SNVs, hemicentin 1 [c. thymine (T) 9776 cytosine (C)], tolloid like 2 [c. cytosine (C) 2615 thymine (T)], fms related tyrosine kinase 3 [c. guanine (G) 976 adenine (A)] and nucleotide binding protein like [c. guanine (G) 91 thymine (T)] were located in conserved regions and annotated as deleterious by PolyPhen2, LRT and MutationTaster database analyses. Based on GTEx data, it was revealed that NUBPL was co‑expressed with almost all previously established LVNC pathogenic genes. Furthermore, the results of the present study demonstrated that genes co‑expressed with NUBPL were additionally enriched in the Notch signaling pathway. In addition, the results revealed numerous novel mutations that may be causal SNVs for the development of LVNC in the family involved in the present study.

show abstract

“…However, PDCD6-deficient cells were no longer capable of blocking apoptosis induced by TCR, FAS, or dexamethasone signals 29. The expression levels and genotypes30 of PDCD6 are associated with cancer risk. In 2003, it was found that PDCD6 was upregulated at tumor sites relative to non-tumor sites among lung cancer patients 31.…”

Section: Introductionmentioning

confidence: 99%

<p>Contribution of programmed cell death 6 genetic variations, gender, and smoking status to lung cancer</p>

Shen¹,

Chang²,

Hsia³

et al. 2019

OTT

View full text Add to dashboard Cite

Purpose Programmed cell death 6 (PDCD6) is a calcium sensor participating in T-cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. At the sites of lung tumors, the expression of PDCD6 is higher than that in non-tumor tissues. However, the contribution of variant PDCD6 genotypes to lung cancer is largely unknown. The current study aimed to evaluate the contributions of the PDCD6 rs4957014 and rs3756712 genotypes to the risk of lung cancer. Patients and methods The contributions of PDCD6 genotypes to lung cancer risk were examined among 358 patients with lung cancer and 716 age- and gender-matched healthy controls by typical polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Results The results showed that the GG but not the GT genotype of PDCD6 rs4957014 was associated with a decreased risk of lung cancer (odds ratio (OR) =0.41, 95% confidence interval (CI) =0.23–0.72, p =0.0013). The analysis of allelic frequency distributions showed that the G allele of PDCD6 rs4957014 decreased lung cancer susceptibility ( p =0.0090). There was no association between PDCD6 rs3756712 genotypes and lung cancer risk. Interestingly, the GG genotype at PDCD6 rs4957014 significantly decreased the risk of lung cancer among males (adjusted OR =0.29, 95% CI =0.14–0.57) and smokers (adjusted OR =0.34, 95% CI =0.18–0.61) but not among females and non-smokers. Conclusion The GG genotype of PDCD6 rs4957014 may decrease lung cancer risk in males and smokers and may serve as a practical marker for early detection and the incidence of lung cancer in Taiwan.

show abstract

Variations in the PDCD6 Gene Are Associated with Increased Uterine Leiomyoma Risk in the Chinese

Cited by 6 publications

References 36 publications

Surface Proteome of Extracellular Vesicles and Correlation Analysis Reveal Breast Cancer Biomarkers

Surface Proteome of Extracellular Vesicles and Correlation Analysis Reveal Breast Cancer Biomarkers

Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction

<p>Contribution of programmed cell death 6 genetic variations, gender, and smoking status to lung cancer</p>

Contact Info

Product

Resources

About