Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Oncology Letters
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-1074 Online ISSN: 1792-1082
Journal Cover
December-2015 Volume 10 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2015 Volume 10 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients

  • Authors:
    • Erica Lorena Kreimann
    • Magdalena Ratajska
    • Alina Kuzniacka
    • Brenda Demacopulo
    • Maciej Stukan
    • Janusz Limon
  • View Affiliations / Copyright

    Affiliations: Department of Radiobiology, National Atomic Energy Commission of Argentina, San Martín, Buenos Aires B1650KNA, Argentina, Department of Biology and Genetics, Medical University of Gdansk, Gdansk 80211, Poland, Department of Gynecological Oncology, Gdynia Oncology Centre, Powstania Styczniowego, Gdynia 81519, Poland
  • Pages: 3722-3726
    |
    Published online on: October 12, 2015
       https://doi.org/10.3892/ol.2015.3796
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The aim of the present study was to investigate novel molecular markers that could improve the diagnosis of ovarian cancer patients or be of predictive value. The sequence of the sodium‑hydrogen antiporter 3 regulator 1 (SLC9A3R1) gene that codes for the PDZ2 motif of the Na+/H+ exchanger regulatory factor 1 (NHERF1) protein was analyzed. Changes in migration and cell transformation, and alterations of growth factor signaling pathways have been described in cells lacking endogenous NHERF1 or expressing an isoform lacking the function of the PDZ2 domain. Exons 2 and 3, together with flanking intronic sequences of the SLC9A3R1 gene, were amplified and bi‑directionally sequenced in 31 primary tumor samples from epithelial ovarian cancer patients. In total, 3 different previously undescribed mutations were detected in 8 out of 31 serous adenocarcinoma tumor samples (25.8%). Bioinformatics analysis predicted a significant effect in the splicing process as a result of the mutations that could disrupt the NHERF1 PDZ2 domain. Point mutations in consensus splicing recognition are a major cause of the splicing defects that are found in several diseases, including cancer. It has previously been shown that a lack of exon 2 and disruption of the PDZ2 domain contribute to cell transformation and leads to modifications in the physiological regulation of the conformational state of NHERF1. Further studies in bigger groups of ovarian cancer patients will determine the importance of this mutation in disease progression and patient survival.
View Figures

Figure 1

View References

1 

Ferlay J, Soerjomataram I, Ervik M, Dikshit R, Eser S, Mathers C, Rebelo M, Parkin DM, Forman D and Bray F: GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 11 (Internet). International Agency for Research on Cancer (Lyon, France). 2013.http://globocan.iarc.frAccessed on. Dec 13–2013

2 

Tinker AV, Boussioutas A and Bowtell DD: The challenges of gene expression microarrays for the study of human cancer. Cancer Cell. 9:333–339. 2006. View Article : Google Scholar : PubMed/NCBI

3 

Weinman EJ, Steplock D, Wang Y and Shenolikar S: Characterization of a protein cofactor that mediates protein kinase A regulation of the renal brush border membrane Na(+)/H+ exchanger. J Clin Invest. 95:2143–2149. 1995. View Article : Google Scholar : PubMed/NCBI

4 

Reczek D, Berryman M and Bretscher A: Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. J Cell Biol. 139:169–179. 1997. View Article : Google Scholar : PubMed/NCBI

5 

Cho KO, Hunt CA and Kennedy MB: The rat brain postsynaptic density fraction contains a homolog of the Drosophila discs-large tumor suppressor protein. Neuron. 9:929–942. 1992. View Article : Google Scholar : PubMed/NCBI

6 

Saotome I, Curto M and McClatchey AI: Ezrin is essential for epithelial organization and villus morphogenesis in the developing intestine. Dev Cell. 6:855–864. 2004. View Article : Google Scholar : PubMed/NCBI

7 

Bretscher A, Chambers D, Nguyen R and Reczek D: ERM-Merlin and EBP50 protein families in plasma membrane organization and function. Annu Rev Cell Dev Biol. 16:113–143. 2000. View Article : Google Scholar : PubMed/NCBI

8 

Shibata T, Chuma M, Kokubu A, Sakamoto M and Hirohashi S: EBP50, a beta-catenin-associating protein, enhances Wnt signaling and is over-expressed in hepatocellular carcinoma. Hepatology. 38:178–186. 2003. View Article : Google Scholar : PubMed/NCBI

9 

Kreimann EL, Morales FC, de Orbeta-Cruz J, Takahashi Y, Adams H, Liu TJ, McCrea PD and Georgescu MM: Cortical stabilization of beta-catenin contributes to NHERF1/EBP50 tumor suppressor function. Oncogene. 26:5290–5299. 2007. View Article : Google Scholar : PubMed/NCBI

10 

Hayashi Y, Molina JR, Hamilton SR and Georgescu MM: NHERF1/EBP50 Is a new marker in colorectal cancer. Neoplasia. 12:1013–1022. 2010. View Article : Google Scholar : PubMed/NCBI

11 

Thiery JP: Epithelial-mesenchymal transitions in tumour progression. Nat Rev Cancer. 2:442–454. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Hazan RB, Qiao R, Keren R, Badano I and Suyama K: Cadherin switch in tumor progression. Ann NY Acad Sci. 1014:155–163. 2004. View Article : Google Scholar : PubMed/NCBI

13 

Dai JL, Wang L, Sahin AA, Broemeling LD, Schutte M and Pan Y: NHERF1 (Na+/H+ exchanger regulatory factor) gene mutations in human breast cancer. Oncogene. 23:8681–8687. 2004. View Article : Google Scholar : PubMed/NCBI

14 

Cancer Genome Atlas Research Network: Integrated genomic analyses of ovarian carcinoma. Nature. 474:609–615. 2011. View Article : Google Scholar : PubMed/NCBI

15 

Scully RE: World Health Organization International Histological Classification of Tumours (2nd). New York: Springer. 1999.

16 

Hall TA: BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symp Ser. 41:95–98. 1999.

17 

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M and Béroud C: Human splicing finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 37:e672009. View Article : Google Scholar : PubMed/NCBI

18 

Shapiro MB and Senapathy P: RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:7155–7174. 1987. View Article : Google Scholar : PubMed/NCBI

19 

Morales FC, Takahashi Y, Momin S, Adams H, Chen X and Georgescu MM: NHERF1/EBP50 head-to-tail intramolecular interaction masks the association with PDZ-domain ligands. Mol Cell Biol. 27:2527–2537. 2007. View Article : Google Scholar : PubMed/NCBI

20 

Pauler DK, Menon U, McIntosh M, Symecko HL, Skates SJ and Jacobs IJ: Factors influencing serum CA125II levels in healthy postmenopausal women. Cancer Epidemiol Biomarkers Prev. 10:489–493. 2001.PubMed/NCBI

21 

Venables JP: Aberrant and alternative splicing in cancer. Cancer Res. 64:7647–7654. 2004. View Article : Google Scholar : PubMed/NCBI

22 

Cooper DN and Krawczak M: Human Gene Mutation. (Oxford, UK). Bios Scientific Publishers. 111–127. 1993.

23 

Cáceres JF and Kornblithtt AR: Alterative splicing: Multiple control mechanisms and involvement in human disease. Trends Genet. 18:186–193. 2002. View Article : Google Scholar : PubMed/NCBI

24 

Baralle D and Baralle M: Splicing in action: Assessing disease causing sequence changes. J Med Genet. 42:737–748. 2005. View Article : Google Scholar : PubMed/NCBI

25 

Fu XD: Towards a splicing code. Cell. 119:736–738. 2004. View Article : Google Scholar : PubMed/NCBI

26 

Blencowe BJ: Alternative splicing: New insights from global analyses. Cell. 126:37–47. 2006. View Article : Google Scholar : PubMed/NCBI

27 

Brinkman BM: Splice variants as cancer biomarkers. Clin Biochem. 37:584–594. 2004. View Article : Google Scholar : PubMed/NCBI

28 

Kalnina Z, Zayakin P, Silina K and Linē A: Alterations of pre-mRNA splicing in cancer. Genes Chromosomes Cancer. 42:342–357. 2005. View Article : Google Scholar : PubMed/NCBI

29 

Nelson WJ and Nusse R: Convergence of Wnt, beta-catenin, and cadherin pathways. Science. 303:1483–1487. 2004. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Kreimann EL, Ratajska M, Kuzniacka A, Demacopulo B, Stukan M and Limon J: A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients. Oncol Lett 10: 3722-3726, 2015.
APA
Kreimann, E.L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., & Limon, J. (2015). A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients. Oncology Letters, 10, 3722-3726. https://doi.org/10.3892/ol.2015.3796
MLA
Kreimann, E. L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., Limon, J."A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients". Oncology Letters 10.6 (2015): 3722-3726.
Chicago
Kreimann, E. L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., Limon, J."A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients". Oncology Letters 10, no. 6 (2015): 3722-3726. https://doi.org/10.3892/ol.2015.3796
Copy and paste a formatted citation
x
Spandidos Publications style
Kreimann EL, Ratajska M, Kuzniacka A, Demacopulo B, Stukan M and Limon J: A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients. Oncol Lett 10: 3722-3726, 2015.
APA
Kreimann, E.L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., & Limon, J. (2015). A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients. Oncology Letters, 10, 3722-3726. https://doi.org/10.3892/ol.2015.3796
MLA
Kreimann, E. L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., Limon, J."A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients". Oncology Letters 10.6 (2015): 3722-3726.
Chicago
Kreimann, E. L., Ratajska, M., Kuzniacka, A., Demacopulo, B., Stukan, M., Limon, J."A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients". Oncology Letters 10, no. 6 (2015): 3722-3726. https://doi.org/10.3892/ol.2015.3796
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team