Gene Summary

Gene:KDSR; 3-ketodihydrosphingosine reductase
Aliases: DHSR, FVT1, EKVP4, SDR35C1
Summary:The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Databases:OMIM, HGNC, Ensembl, GeneCard, Gene
Protein:3-ketodihydrosphingosine reductase
Source:NCBIAccessed: 02 September, 2019

Cancer Overview

Research Indicators

Publications Per Year (1994-2019)
Graph generated 02 September 2019 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Ovariectomy
  • Alcohol Oxidoreductases
  • Cancer DNA
  • 3-ketodihydrosphingosine reductase
  • Chromosome 6
  • CD Antigens
  • Cancer Gene Expression Regulation
  • Translocation
  • Cervical Cancer
  • Germinal Center
  • Gene Rearrangement
  • Skin Tests
  • Fallopian Tubes
  • Uterine Cancer
  • Immunophenotyping
  • Cell Line
  • Gene Expression
  • Nucleic Acid Hybridization
  • Restriction Mapping
  • Chromosome 18
  • BCL2 protein
  • Chromosome X
  • Chromosome 4
  • Chromosome Mapping
  • Palatine Tonsil
  • Genotype
  • Sex Cord-Gonadal Stromal Tumors
  • Mucinous Adenocarcinoma
  • FISH
  • Antibodies, Viral
  • Chromosome Deletion
  • Hysterectomy
  • Adenocarcinoma
  • Ovarian Cancer
  • Immunoglobulins
  • Melanoma
  • Immunohistochemistry
  • Flow Cytometry
Tag cloud generated 02 September, 2019 using data from PubMed, MeSH and CancerIndex

Latest Publications: KDSR (cancer-related)

Czuchlewski DR, Csernus B, Bubman D, et al.
Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome.
Am J Clin Pathol. 2008; 130(6):957-62 [PubMed] Free Access to Full Article Related Publications
Sphingolipids serve an important role as effector molecules in signaling pathways bearing on apoptosis and cell survival. The balance between proapoptotic ceramide and prosurvival sphingosine-1-phosphate, sometimes termed the "sphingolipid rheostat," has received particular attention. Less well studied is the role of the follicular lymphoma variant translocation 1 (FVT1) gene, which was identified through its involvement in an atypical follicular lymphoma translocation and which encodes an enzyme in the synthetic pathway of ceramide. We investigated the expression of FVT1 in a variety of B-cell non-Hodgkin lymphomas and found that FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma (DLBCL) when compared with non-germinal center-type DLBCL, follicular lymphoma, and normal tonsil control samples. Increased expression of FVT1 correlated with decreased survival, suggesting that changes in the expression of FVT1 and in the concentrations of bioactive sphingolipids may be important in the pathogenesis and treatment of some types of DLBCL.

Cho YL, Bae S, Koo MS, et al.
Array comparative genomic hybridization analysis of uterine leiomyosarcoma.
Gynecol Oncol. 2005; 99(3):545-51 [PubMed] Related Publications
PURPOSE: Using a genome-wide array-based comparative genomic hybridization (array-CGH), DNA copy number changes in uterine leiomyosarcoma were analyzed.
MATERIALS AND METHODS: We analyzed 4 cases of uterine leiomyoma and 7 cases of uterine leiomyosarcoma. The paraffin-fixed tissue samples were microdissected under microscope and DNA was extracted. Array-based CGH and fluorescence in situ hybridization (FISH) were carried out with Genome database (Gene Ontology).
RESULTS: Uterine leiomyoma showed no genetic alterations, while all of 7 cases of uterine leiomyosarcoma showed specific gains and losses. The percentage of average gains and losses were 4.86% and 15.1%, respectively. The regions of high level of gain were 7q36.3, 7q33-q35, 12q13-12q15, and 12q23.3. And the regions of homozygous loss were 1p21.1, 2p22.2, 6p11.2, 9p21.1, 9p21.3, 9p22.1, 14q32.33, and 14q32.33 qter. There were no recurrent regions of gain, but recurrent regions of loss were 1p21.1-p21.2, 1p22.3-p31.1, 9p21.2-p22.2, 10q25-q25.2, 11q24.2-q25, 13q12-q12.13, 14q31.1-q31.3, 14q32.32-q32.33, 15q11-q12, 15q13-q14, 18q12.1-q12.2, 18q22.1-q22.3, 20p12.1, and 21q22.12-q22.13. In the high level of gain regions, BAC clones encoded HMGIC, SAS, MDM2, TIM1 genes. Frequently gained BAC clone-encoded genes were TIM1, PDGFR-beta, REC Q4, VAV2, FGF4, KLK2, PNUTL1, GDNF, FLG, EXT1, WISP1, HER-2, and SOX18. The genes encoded by frequently lost BAC clones were LEU1, ERCC5, THBS1, DCC, MBD2, SCCA1, FVT1, CYB5, and ETS2/E2. A subset of cellular processes from each gene was clustered by Gene Ontology database.
CONCLUSION: Using array-CGH, chromosomal aberrations related to uterine leiomyosarcoma were identified. The high resolution of array-CGH combined with human genome database would give a chance to find out possible target genes present in the gained or lost clones.

Wang J, Blakey GL, Zhang L, et al.
Uterine tumor resembling ovarian sex cord tumor: report of a case with t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3).
Diagn Mol Pathol. 2003; 12(3):174-80 [PubMed] Related Publications
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare tumor of reproductive-age and postmenopausal women. We present the first case of UTROSCT with cytogenetic analysis. The tumor occurred in a 34-year-old woman who presented with menorrhagia and a uterine mass. Histologic examination showed tumor with features of sex cord-like epithelium and abundant fibromuscular stroma without an endometrial stromal sarcoma component. The tumor cells expressed cytokeratin, CD99, vimentin, desmin, smooth muscle actin, and estrogen and progesterone receptors. The majority of the cells analyzed by cytogenetic studies showed two balanced chromosomal translocations: t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3). Several known tumor-related genes (bcl-2, MALT-1, FVT1, SCCA1, SCCA2, and DCC at 18q21; RAP1 at 4q21; and STL at 6q23) and a gonadal-development related gene (H-Y regulator gene at Xp22.3) are located at or near the translocation breakpoints. The tumor cells of sex cord-like elements were strongly and diffusely immunoreactive for bcl-2 antibody. These cytogenetic and immunohistochemical data may suggest potential molecular mechanisms of tumorigenesis of UTROSCT.

Nacheva E, Dyer MJ, Metivier C, et al.
B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression.
Blood. 1994; 84(10):3422-8 [PubMed] Related Publications
A B-cell non-Hodgkin's lymphoma (B-NHL) cell line (Karpas 1106) with an unusual three-way translocation involving 18q21.3 has been derived from a patient with mediastinal lymphoblastic B-NHL. Although conventional cytogenetics showed a derivative 18q-identical to that seen in cases with t(14;18)(q32.3;q21.3), no translocations of either chromosome 14 could be detected. Instead fluorescent in situ hybridization analysis using a chromosome-18 paint showed that the segment 18q21.3-18qter had become sandwiched on a derivative chromosome X between segments Xqter-c-Xq28 and 13q12-qter, with the centrometric site of 18q21.3 subband juxtaposed to the X sequences. Pulsed-field DNA blots failed to detect rearrangement of the BCL2 gene. Conventional DNA blots using a variety of restriction digests and both 5' and 3' BCL2 and FVT 1 probes also failed to detect rearrangement in Karpas 1106. A rearranged fragment seen only in HindIII digests with 5' BLC2 probes may represent a local microalteration, which is either a mutation or small deletion involving the HindIII site as seen in other cases of B-NHL. Neither BCL2 RNA nor BCL2 protein expression were detected. These and other data suggest that genes at 18q21.3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL.

Freedman RS, Bowen JM, Atkinson EN, et al.
Virus-augmented delayed hypersensitivity skin tests in gynecological malignancies.
Cancer Immunol Immunother. 1984; 17(2):142-6 [PubMed] Related Publications
Cultured human tumor cells of various histologic origins were infected with PR8/A/34 influenza virus. Nonviable crude membrane extracts were derived from the infected and uninfected cells. The extracts were coded and tested for their ability to produce delayed hypersensitivity skin reactions (DHSR) in allogeneic patients with squamous uterine cervical carcinoma, epithelial ovarian carcinoma, and malignant melanoma. Augmented antigen sensitivity to the virus-modified extracts compared with virus alone or to the unmodified extracts was observed in all patient groups. There was insufficient specificity to delineate a response by individual tumor type and related tumor extract, but some of the observed responses suggested tumor or organ site associations. Cervical carcinoma patients reacted more frequently to the virus-modified cervix extract, which also produced a high frequency of response in patients with ovarian carcinoma and melanoma. Ovarian carcinoma patients demonstrated increased sensitivity to both virus-modified ovarian carcinoma extracts, although 14 of 21 patients also showed responsiveness to one of the unmodified ovarian extracts. Malignant melanoma patients showed increased sensitivity to all virus-modified extracts except one of two derived from the ovarian carcinoma, and demonstrated a significantly augmented response to the virus-modified melanoma extract when the response to this extract was compared with that in ovarian carcinoma patients. The augmented reactions appear to be due to an association of the PR8 virus and as yet undetermined cellular components rather than to the virus alone. The possible involvement of tumor-associated determinants and the clinical significance of this phenomenon require further investigation.

Parr IB, Jackson LE, Alexander P
Role of "lymphotoxin" in the local anti-tumour action associated with inflammation caused by delayed hypersensitivity responses or intralesional BCG. I. Variations in response of different syngeneic mouse tumours.
Br J Cancer. 1983; 48(3):395-403 [PubMed] Free Access to Full Article Related Publications
The anti-tumour effect induced by a delayed hypersensitivity response (DHSR) unrelated to the tumour or by intra-tumoural inoculation of BCG was studied with 6 syngeneic mouse tumours. The growth of the tumours was followed i.p. or s.c. in suitably sensitized animals either in the presence or absence of the specific antigen required to elicit a DHSR. In a Winn-type assay the growth of tumour cells admixed with sensitized lymphocytes was also determined with and without the eliciting antigens. In addition, the effect of admixing different amounts of BCG with the tumour cells was studied on the growth of the tumours in vivo. The different tumours varied widely in their susceptibility to growth inhibition by a DHSR reaction and by BCG but their order of sensitivity was the same in all of the tests. Analysis of the effector population in the Winn test coupled with the inability to observe an anti-tumour action in mice with defective T-cell function showed that the effector mechanism involved allergized T-cells or more probably products released when these were confronted with the specific antigen. In vitro the relative susceptibility of the different tumour cells to killing by activated macrophages and by NK cells was quite different to that found for in vivo growth inhibition but the in vitro response to lymphotoxin of the different tumours paralleled that produced by inflammation in vivo.

Alexander P, Parr IB, Jackson LE
Mechanism of the local antitumor action of inflammation.
Transplant Proc. 1981; 13(4):1929-31 [PubMed] Related Publications
Some but not all tumor cells are killed in the environment of a delayed hypersensitivity reaction (DHSR) induced by antigens unrelated to the tumor. Of the several cytotoxic components, cellular and humoral, which are present at the site of a DHSR, a lymphokine released by the interaction of specific antigen with immune T cells-presumptively lymphotoxin-was shown to be responsible for the antitumor action of DHSR. The same mechanism may account for the failure of some tumor cells to grow when inoculated in admixture with BCG.

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Cite this page: Cotterill SJ. FVT1, Cancer Genetics Web: http://www.cancer-genetics.org/FVT1.htm Accessed:

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