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JAZF zinc finger 1

JAZF1
This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: SUZ12, HAD, TCF4, CO-029, Insulin
Papers on JAZF1
[Effects of JAZF1 overexpression on proinflammatory cytokines in hepatocytes induced by palmitic acid].
New
Zhang et al., Chongqing, China. In Zhonghua Gan Zang Bing Za Zhi, Jan 2016
OBJECTIVE: To investigate the effects of JAZF1 overexpression on the pro-inflammatory cytokines in hepatic steatosis.
Analysis of MDM2 Amplification in 43 Endometrial Stromal Tumors: A Potential Diagnostic Pitfall.
New
Nucci et al., Boston, United States. In Int J Gynecol Pathol, Nov 2015
We recently evaluated a mesenteric mass initially diagnosed as dedifferentiated liposarcoma, largely due to the neoplasm's myxoid morphology and MDM2 expression by immunohistochemistry, from a 46-yr-old woman with a history of uterine low-grade endometrial stromal sarcoma (LG-ESS) with a JAZF1 rearrangement.
Genomic landscape of endometrial stromal sarcoma of uterus.
New
Lee et al., Seoul, South Korea. In Oncotarget, Nov 2015
Although recurrent gene fusions such as JAZF1-JJAZ1 are considered driver events for endometrial stromal sarcoma (ESS) development, other genomic alterations remain largely unknown.
[Association of single nucleotide polymorphisms of susceptibility genes of type 2 diabetes mellitus with liability to gout among ethnic Han Chinese males from coastal region of Shandong].
New
Jia et al., Qingdao, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Oct 2015
METHODS Seven SNPs within the susceptibility genes of T2DM, including rs10773971(G/C) and rs4766398(G/C) of WNT5B gene, rs10225163(G/C) of JAZF1 gene, rs2069590(T/A) of BDKRB2 gene, rs5745709(G/A) of HGF gene, rs1991914(C/A) of OTOP1 gene and rs2236479(G/A) of COL18A1 gene, were typed with a custom-made Illumina GoldenGate Genotyping assay in 480 male patients with gout and 480 male controls.
Endometrial stromal sarcoma--the new genetic paradigm.
Review
New
Nucci et al., Edmonton, Canada. In Histopathology, Jul 2015
Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions.
Association of JAZF1 and TSPAN8/LGR5 variants in relation to type 2 diabetes mellitus in a Saudi population.
Al-Daghri et al., Riyadh, Saudi Arabia. In Diabetol Metab Syndr, 2014
Various genes including zinc finger protein 1 (JAZF1) and tetraspanin 8/leucine-rich repeat-containing G protein-coupled receptor (TSPAN8/LGR5) have been previously described to be associated with T2DM.
Gynecologic Cancer InterGroup (GCIG) consensus review for high-grade undifferentiated sarcomas of the uterus.
Review
Ray-Coquard et al., Essen, Germany. In Int J Gynecol Cancer, 2014
YWHAE-FAM22 endometrial stromal sarcomas (ESS) represent a clinically aggressive subtype of ESS classified as high-grade endometrial sarcomas, and its distinction from the usual low-grade ESS with JAZF1 rearrangement and from HGUS with no identifiable molecular aberration may be important in guiding clinical management.
Endometrial stromal tumors: the new WHO classification.
Review
Longacre et al., Stanford, United States. In Adv Anat Pathol, 2014
Specifically, the JAZF1-SUZ12 (formerly JAZF1-JJAZ1) fusion identifies a large proportion of ESN and LG-ESSs, whereas the YWHAE-FAM22 translocation identifies HG-ESSs.
Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.
GeneRIF
American Diabetes Association GENNID Study Group et al., Winston-Salem, United States. In J Hum Genet, 2012
This study indicates a nominal role for JAZF1 and BCL11A variants in type 2 diabetes susceptibility in African-Americans.
HNF1B and JAZF1 genes, diabetes, and prostate cancer risk.
GeneRIF
Hayes et al., Atlanta, United States. In Prostate, 2010
The JAZF1 SNPs rs6968704 and rs10486567 were associated with decreased risk of prostate cancer but were not associated with diabetes.
Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2.
GeneRIF
Yeager et al., Bethesda, United States. In Cancer Epidemiol Biomarkers Prev, 2010
Single-nucleotide polymorphism of rs10486567 in JAZF1 is associated with prostate cancer.
Interactions between genetic factors that predict diabetes and dietary factors that ultimately impact on risk of diabetes.
Review
Liang et al., Boston, United States. In Curr Opin Lipidol, 2010
Variants in genes HHEX, CDKN2A/2B, JAZF1, and IGF2BP2 were found to interact with prenatal nutrition in relation to T2D risk and glucose levels in later life.
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
Impact
GeneRIF
Graham et al., In Nat Genet, 2009
identified five new systemic lupus erythematosus susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19).
Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors.
GeneRIF
Oliva et al., Boston, United States. In Am J Surg Pathol, 2009
The JAZF1-JJAZ1 gene fusion was not identified in any Uterine tumor resembling ovarian sex cord tumors
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Impact
Groop et al., Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.
A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.
Impact
GeneRIF
Sklar et al., New Haven, United States. In Science, 2008
study shows normal endometrial stromal cells contain a specific chimeric RNA joining 5' exons of JAZF1 gene on chromosome 7p15 to 3' exons of JJAZ1/SUZ12 gene on chromosome 17q11; this RNA is translated into JAZF1-JJAZ1 with anti-apoptotic activity
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Impact
Altshuler et al., Oxford, United Kingdom. In Nat Genet, 2008
We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P = 5.0 x 10(-14)), CDC123-CAMK1D (P = 1.2 x 10(-10)), TSPAN8-LGR5 (P = 1.1 x 10(-9)), THADA (P = 1.1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions.
Multiple loci identified in a genome-wide association study of prostate cancer.
Impact
Chanock et al., Bethesda, United States. In Nat Genet, 2008
Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.
Molecular genetic changes in epithelial, stromal and mixed neoplasms of the endometrium.
Review
Lax, Graz, Austria. In Pathology, 2007
ESS and ESN share the fusion gene JAZF1/JJAZ1 caused by a t(7;17)(p15;q21) translocation, whereas UES lacks a distinctive molecular alteration so far.
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