Gene Symbol: JAZF1
Description: JAZF zinc finger 1
Alias: TIP27, ZNF802, juxtaposed with another zinc finger protein 1, TAK1-interacting protein 27, juxtaposed with another zinc finger gene 1, zinc finger protein 802
Species: human
Products:     JAZF1

Top Publications

  1. Li H, Wang J, Mor G, Sklar J. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. Science. 2008;321:1357-61 pubmed publisher
    ..We show that normal endometrial stromal cells contain a specific chimeric RNA joining 5' exons of the JAZF1 gene on chromosome 7p15 to 3' exons of the Polycomb group gene JJAZ1/SUZ12 on chromosome 17q11 and that this RNA ..
  2. Xu J, Isaacs S, Sun J, Li G, Wiley K, Zhu Y, et al. Association of prostate cancer risk variants with clinicopathologic characteristics of the disease. Clin Cancer Res. 2008;14:5819-24 pubmed publisher
    ..Case-case studies are urgently needed to discover genetic variants that predict tumor aggressiveness. ..
  3. Thomas G, Jacobs K, Yeager M, Kraft P, Wacholder S, Orr N, et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet. 2008;40:310-5 pubmed publisher
    ..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...
  4. van Hoek M, Dehghan A, Witteman J, van Duijn C, Uitterlinden A, Oostra B, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008;57:3122-8 pubmed publisher
    ..Of the 18 polymorphisms, the ADAMTS9, CDKAL1, CDKN2A/B-rs1412829, FTO, IGF2BP2, JAZF1, SLC30A8, TCF7L2, and WFS1 variants were associated with type 2 diabetes risk in our population. The AUC was 0...
  5. Lin X, Song K, Lim N, Yuan X, Johnson T, Abderrahmani A, et al. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study. Diabetologia. 2009;52:600-8 pubmed publisher
    ..In this population, a simple weighted 15 SNP-based genetic score provides additional information over clinical predictors of prevalent diabetes. At this stage, however, the clinical benefit of this genetic information is limited. ..
  6. Zeggini E, Scott L, Saxena R, Voight B, Marchini J, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008;40:638-45 pubmed publisher
    ..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...
  7. Sanghera D, Been L, Ortega L, Wander G, Mehra N, Aston C, et al. Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs. J Hum Genet. 2009;54:162-8 pubmed publisher
    A recent meta-analysis on three genome-wide association (GWA) scans identified six loci (NOTCH2, THADA, ADAMTS9, JAZF1, CDC123/CAMKID and TSPAN8/LGRS) highly associated with type II diabetes (T2D) in Caucasians...
  8. Nucci M, Harburger D, Koontz J, Dal Cin P, Sklar J. Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. Am J Surg Pathol. 2007;31:65-70 pubmed
    ..Previously we had shown that this translocation joins 2 genes, JAZF1 and JJAZ1, located on chromosomes 7 and 17, respectively...
  9. Pulizzi N, Lyssenko V, Jonsson A, Osmond C, Laakso M, Kajantie E, et al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009;52:825-9 pubmed publisher
    ..birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes...

More Information


  1. Staiger H, Machicao F, Kantartzis K, Schäfer S, Kirchhoff K, Guthoff M, et al. Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes. PLoS ONE. 2008;3:e3019 pubmed publisher
    ..non-diabetic German subjects were genotyped for the reported candidate single nucleotide polymorphisms (SNPs) JAZF1 rs864745, CDC123/CAMK1D rs12779790, TSPAN8/LGR5 rs7961581, THADA rs7578597, ADAMTS9 rs4607103, NOTCH2 rs10923931, ..
  2. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes. 2009;58:2129-36 pubmed publisher
    ..of SNPs in or near PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, LOC387761, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, NOTCH2, KCNQ1, and MTNR1B were performed...
  3. Grarup N, Andersen G, Krarup N, Albrechtsen A, Schmitz O, Jørgensen T, et al. Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged D. Diabetes. 2008;57:2534-40 pubmed publisher
    ..the impact on diabetes-related intermediary traits of common novel type 2 diabetes-associated variants in the JAZF1 (rs864745), CDC123/CAMK1D (rs12779790), TSPAN8 (rs7961581), THADA (rs7578597), ADAMTS9 (rs4607103), and NOTCH2 (..
  4. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008;359:2220-32 pubmed publisher
    ..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; ..
  5. Johansson A, Marroni F, Hayward C, Franklin C, Kirichenko A, Jonasson I, et al. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet. 2009;18:373-80 pubmed publisher
    ..4 x 10(-10) and 5.3 x 10(-8). These SNPs are located in the JAZF1 gene, which has recently been associated with type II diabetes, prostate and endometrial cancer...
  6. Gateva V, Sandling J, Hom G, Taylor K, Chung S, Sun X, et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet. 2009;41:1228-33 pubmed publisher
    ..27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19)...
  7. Zhao J, Li M, Bradfield J, Wang K, Zhang H, Sleiman P, et al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes. 2009;58:2414-8 pubmed publisher
    ..variation at 20 loci including TCF7L2, HHEX-IDE, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B, and JAZF1 with birth weight...
  8. Meigs J, Shrader P, Sullivan L, McAteer J, Fox C, Dupuis J, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008;359:2208-19 pubmed publisher
    ..A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. ..
  9. Lango H, Palmer C, Morris A, Zeggini E, Hattersley A, McCarthy M, et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008;57:3129-35 pubmed publisher
    ..Further studies are needed to assess whether individuals with extreme numbers of risk alleles may benefit from genetic testing. ..
  10. Nakajima T, Fujino S, Nakanishi G, Kim Y, Jetten A. TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4. Nucleic Acids Res. 2004;32:4194-204 pubmed
    ..using the ligand-binding domain (LBD) of TAK1 as bait identified a novel TAK1-interacting protein, referred to as TIP27, which functions as a repressor of TAK1-mediated transactivation...
  11. Wu J, Chen L, Zheng C, Xu S, Gao Y, Wang J. Co-expression Network Analysis Revealing the Potential Regulatory Roles of lncRNAs in Alzheimer's Disease. Interdiscip Sci. 2019;: pubmed publisher
    ..Four lncRNAs (LOC100507557, LOC101929787, NEAT1, and JAZF1-AS1) were identified as key lncRNAs in AD progression and dysregulated in different distinct regions related to AD...
  12. de Vries P, Sabater Lleal M, Huffman J, Marten J, Song C, Pankratz N, et al. A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. Blood. 2019;: pubmed publisher
    ..We identified two novel (REEP3 and JAZF1-AS1) and six known loci associated with FVII activity, explaining 19.0% of the phenotypic variance...
  13. Wei Q, Zhou B, Yang G, Hu W, Zhang L, Liu R, et al. JAZF1 ameliorates age and diet-associated hepatic steatosis through SREBP-1c -dependent mechanism. Cell Death Dis. 2018;9:859 pubmed publisher
    JAZF zinc finger 1 (JAZF1) is involved in glucose and lipid metabolisms. However, its role in aging- and nutrient-related hepatic steatosis is unclear...
  14. Fu H, Zhou F, Yuan Q, Zhang W, Qiu Q, Yu X, et al. miRNA-31-5p Mediates the Proliferation and Apoptosis of Human Spermatogonial Stem Cells via Targeting JAZF1 and Cyclin A2. Mol Ther Nucleic Acids. 2018;14:90-100 pubmed publisher
    ..Furthermore, JAZF1 was predicted and verified as a target of miRNA-31-5p, and the three-dimensional (3D) structure model of JAZF1 ..
  15. Machiela M, Lindstrom S, Allen N, Haiman C, Albanes D, Barricarte A, et al. Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium. Am J Epidemiol. 2012;176:1121-9 pubmed publisher
    ..Ten T2D markers near 9 loci (NOTCH2, ADCY5, JAZF1, CDKN2A/B, TCF7L2, KCNQ1, MTNR1B, FTO, and HNF1B) were nominally associated with PCa (P < 0...
  16. Yuan L, Luo X, Zeng M, Zhang Y, Yang M, Zhang L, et al. Transcription factor TIP27 regulates glucose homeostasis and insulin sensitivity in a PI3-kinase/Akt-dependent manner in mice. Int J Obes (Lond). 2015;39:949-58 pubmed publisher
    Juxtaposed with another zinc-finger gene 1 (TIP27 or JAZF1) is a 27-kDa transcription factor, and genome-wide association studies have recently revealed TIP27 to be associated with type 2 diabetes...
  17. Li X, Yang M, Wang H, Jia Y, Yan P, Boden G, et al. Overexpression of JAZF1 protected ApoE-deficient mice from atherosclerosis by inhibiting hepatic cholesterol synthesis via CREB-dependent mechanisms. Int J Cardiol. 2014;177:100-10 pubmed publisher
    Genome wide association studies have suggested an association of Juxtaposed with another zinc finger gene 1(JAZF1) with type 2 diabetes mellitus (T2DM)...
  18. Hrzenjak A. JAZF1/SUZ12 gene fusion in endometrial stromal sarcomas. Orphanet J Rare Dis. 2016;11:15 pubmed publisher
    ..To date the JAZF1/SUZ12 gene fusion is by far the most frequent and seems to be the cytogenetic hallmark of ESN and LG-ESS...
  19. Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, et al. HOXA genes cluster: clinical implications of the smallest deletion. Ital J Pediatr. 2015;41:31 pubmed publisher
    ..involving the entire HOXA cluster and a small number of other genes as SNX10, SKAP2, EVX1, HIBADH, TAX1BP1, JAZF1, and CREB5...
  20. Gallagher D, Vijai J, Cronin A, Bhatia J, Vickers A, Gaudet M, et al. Susceptibility loci associated with prostate cancer progression and mortality. Clin Cancer Res. 2010;16:2819-32 pubmed publisher
    ..A larger study will be required to independently validate these findings and determine the role of these SNPs in prognostic models. ..
  21. Ali R, Al Safi R, Al Waheeb S, John B, Al Ali W, Al Jassar W, et al. Molecular characterization of a population-based series of endometrial stromal sarcomas in Kuwait. Hum Pathol. 2014;45:2453-62 pubmed publisher
    Endometrial stromal sarcomas (ESSs) frequently harbor genetic fusions, including JAZF1-SUZ12 and equivalent fusions in low-grade ESS (LGESS) and YWHAE-NUTM2 in high-grade ESS (HGESS)...
  22. Tsuyoshi H, Yoshida Y. Molecular biomarkers for uterine leiomyosarcoma and endometrial stromal sarcoma. Cancer Sci. 2018;109:1743-1752 pubmed publisher
    ..low-grade ESS is often associated with gene rearrangement bringing about the JAZF 1-SUZ12 (formerly JAZF1-JJAZ1) fusion gene, whereas high-grade ESS is associated with the YWHAE-NUTM fusion gene...
  23. Langberg K, Ma L, Sharma N, Hanis C, Elbein S, Hasstedt S, et al. Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study. J Hum Genet. 2012;57:57-61 pubmed publisher
    ..Among the replicated SNPs rs864745 in JAZF1 and rs10490072 in BCL11A gene (P=0.006 and 0...
  24. Kottyan L, Maddox A, Braxton J, Stucke E, Mukkada V, Putnam P, et al. Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis. Genes Immun. 2019;20:281-292 pubmed publisher
    ..Suggestive EoE risk were also seen 5q23 (intergenic) and 7p15 (JAZF1)...
  25. Sharaf S, Kantoush N, Ayoub D, Ibrahim A, Abdelaal A, Aziz R, et al. Altered expression of WFS1 and NOTCH2 genes associated with diabetic nephropathy in T2DM patients. Diabetes Res Clin Pract. 2018;140:304-313 pubmed publisher
    ..The present study aimed at investigating expression of (KCNJ11, ABCC8, JAZF1, WFS1, PPARG, NOTCH2 and EXOSC4) genes in peripheral blood of T2DM patients...
  26. Li X, Anand M, Haimes J, Manoj N, Berlin A, Kudlow B, et al. The application of next-generation sequencing-based molecular diagnostics in endometrial stromal sarcoma. Histopathology. 2016;69:551-9 pubmed publisher
    ..genetic studies can provide additional diagnostic insights, as low-grade ESSs frequently harbour fusions involving JAZF1/SUZ12 and/or JAZF1/PHF1, whereas high-grade ESSs are defined by YWHAE-NUTM2A/B fusions...
  27. Yang H, He J, Xu X, Jiang J, He C, Ma H. Molecular characterization and tissue expression profile analysis of the porcine JAZF1 gene. Genet Mol Res. 2015;14:542-51 pubmed publisher
    A recent study indicated that the JAZF1 gene was related to lipid metabolism by regulating the level of gene expression in humans and mice...
  28. Johnson J, Watson J, Nikolić M, Rawlins E. Fank1 and Jazf1 promote multiciliated cell differentiation in the mouse airway epithelium. Biol Open. 2018;7: pubmed publisher
    ..that Fibronectin type 3 and ankyrin repeat domains 1 (Fank1) and JAZF zinc finger 1 (Jazf1) promoted multiciliated cell differentiation alone, and cooperatively with the canonical multiciliated cell ..
  29. Hodge J, Bedroske P, Pearce K, Sukov W. Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors: Discovery of Genetic Complexity by Fluorescence in Situ Hybridization. J Mol Diagn. 2016;18:516-26 pubmed publisher
    ..To enhance EST diagnosis, a break-apart strategy fluorescence in situ hybridization panel to detect JAZF1, PHF1, and YWHAE rearrangements was applied to a cohort of primary or metastatic endometrial stromal nodules, ESSs,..
  30. Kaur M, Panikkath D, Yan X, Liu Z, Berel D, Li D, et al. Perianal Crohn's Disease is Associated with Distal Colonic Disease, Stricturing Disease Behavior, IBD-Associated Serologies and Genetic Variation in the JAK-STAT Pathway. Inflamm Bowel Dis. 2016;22:862-9 pubmed publisher
    ..pCD was associated with known inflammatory bowel disease loci, including KIF3B, CRTC3, TRAF3IP2, JAZF1, NRIP1, MST1, FUT2, and PTGER (all P < 0.05)...
  31. Hoang L, Chiang S, Lee C. Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations. Pathology. 2018;50:162-177 pubmed publisher
    ..resemblance to proliferative-type endometrial stroma, and approximately half harbour t(7;17)(p15;q21) resulting in JAZF1-SUZ12 gene fusion...
  32. Zhao F, McParland S, Kearney F, Du L, Berry D. Detection of selection signatures in dairy and beef cattle using high-density genomic information. Genet Sel Evol. 2015;47:49 pubmed publisher
    ..e. DGAT1, ABCG2, MSTN, CAPN3, FABP3, CHCHD7, PLAG1, JAZF1, PRKG2, ACTC1, TBC1D1, GHR, BMP2, TSG1, LYN, KIT and MC1R that play a role in milk production, reproduction, body ..
  33. Lee C, Ali R, Gilks C. Molecular Genetics of Mesenchymal Tumors of the Female Genital Tract. Surg Pathol Clin. 2009;2:823-34 pubmed publisher
    ..analysis techniques have revealed important genetic aberrations such as the t(7;17) translocation, resulting in JAZF1-JJAZ1 gene fusion, characteristic of endometrial stromal tumors...
  34. Lax S. [New features in the 2014 WHO classification of uterine neoplasms]. Pathologe. 2016;37:500-511 pubmed
    ..Low grade stromal neoplasms frequently show gene fusions, such as JAZF1/SUZ12...
  35. Bao B, Pao J, Lin V, Huang C, Chang T, Lan Y, et al. Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease. Clin Chim Acta. 2010;411:1232-7 pubmed publisher
    ..Our results suggested that loci associated with PCa risk might also have a cumulative and significant association with disease aggressiveness. ..
  36. Lin H, Zhang M, Yu H, Zhang H, Li Y, Xu J, et al. Analysis of differentially expressed genes between endometrial carcinosarcomas and endometrioid endometrial carcinoma by bioinformatics. Arch Gynecol Obstet. 2016;293:1073-9 pubmed publisher
    ..The DEGs, such as TP53, PIK3R1 and AKT2 may be used for targeted diagnosis and treatment of ECS while STAT3 and JAZF1 may be served as a target for EEC.
  37. Jakate K, Azimi F, Ali R, Lee C, Clarke B, Rasty G, et al. Endometrial sarcomas: an immunohistochemical and JAZF1 re-arrangement study in low-grade and undifferentiated tumors. Mod Pathol. 2013;26:95-105 pubmed publisher
    ..Morphological features, immunoprofile and fluorescence in situ hybridization rearrangements of JAZF1 and PHF1 genes were correlated with tumor category and outcome...
  38. Ma X, Wang J, Wang J, Ma C, Gao X, Patriub V, et al. The JAZF1-SUZ12 fusion protein disrupts PRC2 complexes and impairs chromatin repression during human endometrial stromal tumorogenesis. Oncotarget. 2017;8:4062-4078 pubmed publisher
    ..translocation present in most cases of endometrial stromal sarcomas (ESSs) results in the in-frame fusion of the JAZF1 and SUZ12 genes. We have investigated whether and how the fusion protein JAZF1-SUZ12 functionally alters PRC2...
  39. Schoolmeester J, Sciallis A, Greipp P, Hodge J, Dal Cin P, Keeney G, et al. Analysis of MDM2 Amplification in 43 Endometrial Stromal Tumors: A Potential Diagnostic Pitfall. Int J Gynecol Pathol. 2015;34:576-83 pubmed publisher
    ..from a 46-yr-old woman with a history of uterine low-grade endometrial stromal sarcoma (LG-ESS) with a JAZF1 rearrangement...
  40. Yuan C, Huang W, Lee C, Lin M, Lee C, Kao Y, et al. Comprehensive screening for MED12 mutations in gynaecological mesenchymal tumours identified morphologically distinctive mixed epithelial and stromal tumours. Histopathology. 2017;70:954-965 pubmed publisher
    ..for CD10, myogenic markers, hormone receptors, MDM2, and CDK4, and fluorescence in-situ hybridization (FISH) for JAZF1, PHF1 and YWHAE rearrangement, were performed on selected cases...
  41. Tatura R, Buchholz M, Dickson D, van Swieten J, McLean C, Höglinger G, et al. microRNA profiling: increased expression of miR-147a and miR-518e in progressive supranuclear palsy (PSP). Neurogenetics. 2016;17:165-71 pubmed publisher
    ..Target genes of miR-147a (NF1, ACLY, ALG12) and of miR-518e (CPEB1, JAZF1, RAP1B) were repressed in patients' forebrains...
  42. Liu H, Wang B, Han C. Meta-analysis of genome-wide and replication association studies on prostate cancer. Prostate. 2011;71:209-24 pubmed publisher
    ..The current meta-analysis demonstrated the moderate effects of above 31 SNPs on PCa and 14 independent PCa risk loci were identified. ..
  43. Yuasa K, Aoki N, Hijikata T. JAZF1 promotes proliferation of C2C12 cells, but retards their myogenic differentiation through transcriptional repression of MEF2C and MRF4-Implications for the role of Jazf1 variants in oncogenesis and type 2 diabetes. Exp Cell Res. 2015;336:287-97 pubmed publisher
    Single-nucleotide polymorphisms associated with type 2 diabetes (T2D) have been identified in Jazf1, which is also involved in the oncogenesis of endometrial stromal tumors...
  44. Staats P, Garcia J, Dias Santagata D, Kuhlmann G, Stubbs H, McCluggage W, et al. Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors. Am J Surg Pathol. 2009;33:1206-12 pubmed publisher
    ..Recently, several studies have revealed a recurrent t(7;17) translocation resulting in a JAZF1-JJAZ1 gene fusion in over 60% of EST and its variants, including 2 out of 4 endometrial stromal tumors with sex ..
  45. Panagopoulos I, Mertens F, Griffin C. An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera. Cancer Genet Cytogenet. 2008;185:74-7 pubmed publisher
    ..Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS...
  46. Adams M, Soares M, Kerlavage A, Fields C, Venter J. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Nat Genet. 1993;4:373-80 pubmed
    ..37% of the clones were identified, based on matches to over 320 different genes in the public databases. Of these, two proteins similar to the Alzheimer's disease amyloid precursor protein were identified. ..
  47. Prokunina Olsson L, Fu Y, Tang W, Jacobs K, Hayes R, Kraft P, et al. Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2. Cancer Epidemiol Biomarkers Prev. 2010;19:1349-55 pubmed publisher
    ..prostate cancer scan, a single-nucleotide polymorphism (SNP), rs10486567, located within intron 2 of JAZF1 gene on chromosome 7p15.2, showed a promising association with PrCa overall (P=2...
  48. Huang S, Huang L, Ting W, Chen L, Chang T, Lu T, et al. Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy. Cancer Epidemiol Biomarkers Prev. 2009;18:3068-74 pubmed publisher
    ..01). In conclusion, loci associated with risk for prostate cancer, such as rs7920517 and rs10993994, might also be used to predict the recurrence of prostate-specific antigen in prostate cancer patients receiving radical prostatectomy. ..
  49. Liu L, Pertsemlidis A, Ding L, Story M, Steinberg M, Sebastiani P, et al. Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. Exp Biol Med (Maywood). 2016;241:706-18 pubmed publisher
    ..In addition, we identified SNPs in the SPARC, GJC1, EFTUD2 and JAZF1 genes as novel candidates associated with HbF levels...
  50. Li H, Ma X, Wang J, Koontz J, Nucci M, Sklar J. Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival. Proc Natl Acad Sci U S A. 2007;104:20001-6 pubmed
    ..translocations and resultant gene fusions involving PcGs, the most common of which joins portions of the JAZF1 gene to the PcGJJAZ1/SUZ12...
  51. Bai Q, Chang B, Tu X, Bi R, Cheng Y, Huang D, et al. [Values of JAZF1 gene rearrangement detected by fluorescence in-situ hybridization in diagnosis of endometrial stromal tumours]. Zhonghua Bing Li Xue Za Zhi. 2017;46:769-774 pubmed publisher
    b>Objective: To investigate the role of JAZF1 gene rearrangement in the diagnosis and differential diagnosis of endometrial stromal sarcomas by fluorescence in situ hybridization (FISH)...
  52. Brito E, Lyssenko V, Renstrom F, Berglund G, Nilsson P, Groop L, et al. Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults. Diabetes. 2009;58:1411-8 pubmed publisher
    ..015 and 0.0068, respectively). Our observations suggest that the genetic predisposition to hyperglycemia is partially dependent on a person's lifestyle. ..
  53. Oliva E, de Leval L, Soslow R, Herens C. High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. Am J Surg Pathol. 2007;31:1277-84 pubmed
    ..low-grade endometrial stromal tumors (EST) is the t(7;17)(p15;q21) translocation, resulting in the fusion of the JAZF1 and JJAZ1 genes...
  54. Neslund Dudas C, Levin A, Beebe Dimmer J, Bock C, Nock N, Rundle A, et al. Gene-environment interactions between JAZF1 and occupational and household lead exposure in prostate cancer among African American men. Cancer Causes Control. 2014;25:869-79 pubmed publisher
    A single nucleotide polymorphism, rs10486567, in JAZF1 has consistently been associated with increased risk of prostate cancer...
  55. Koontz J, Soreng A, Nucci M, Kuo F, Pauwels P, Van den Berghe H, et al. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci U S A. 2001;98:6348-53 pubmed
    ..We have identified two zinc finger genes, which we have termed JAZF1 and JJAZ1, at the sites of the 7p15 and 17q21 breakpoints...
  56. Huang H, Ladanyi M, Soslow R. Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. Am J Surg Pathol. 2004;28:224-32 pubmed
    ..morphologic features and contain the nonrandom t(7;17)(p15; q21), which results in the fusion of two novel genes, JAZF1 and JJAZ1...
  57. Orozco G, Eyre S, Hinks A, Bowes J, Morgan A, Wilson A, et al. Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2011;70:463-8 pubmed publisher
    ..These mapped to the TNFSF4, BANK1, TNIP1, PTTG1, UHRF1BP1, ATG5, JAZF1, BLK, KIAA1542, ITGAM and UBE2L3 loci...
  58. Lango Allen H, Johansson S, Ellard S, Shields B, Hertel J, Raeder H, et al. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes. 2010;59:266-71 pubmed publisher
    ..This is one of the first studies to demonstrate that clinical characteristics of a monogenic disease can be modified by common polygenic variants. ..
  59. Simonis Bik A, Nijpels G, van Haeften T, Houwing Duistermaat J, Boomsma D, Reiling E, et al. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. Diabetes. 2010;59:293-301 pubmed publisher
    ..All subjects were genotyped for gene variants in JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, THADA, ADAMTS9, NOTCH2/ADAMS30, DCD, VEGFA, BCL11A, HNF1B, WFS1, and MTNR1B...
  60. Zheng S, Hsing A, Sun J, Chu L, Yu K, Li G, et al. Association of 17 prostate cancer susceptibility loci with prostate cancer risk in Chinese men. Prostate. 2010;70:425-32 pubmed publisher
    ..Larger studies in Chinese and Asian populations are needed to confirm these findings and the role of these risk loci in prostate cancer etiology in Asian men. ..
  61. Stevens V, Ahn J, Sun J, Jacobs E, Moore S, Patel A, et al. HNF1B and JAZF1 genes, diabetes, and prostate cancer risk. Prostate. 2010;70:601-7 pubmed publisher
    ..Recently, common variants in two genes, HNF1B and JAZF1, were found to be associated with both of these diseases...
  62. Fogarty M, Panhuis T, Vadlamudi S, Buchkovich M, Mohlke K. Allele-specific transcriptional activity at type 2 diabetes-associated single nucleotide polymorphisms in regions of pancreatic islet open chromatin at the JAZF1 locus. Diabetes. 2013;62:1756-62 pubmed publisher
    ..For the type 2 diabetes association signal in JAZF1 intron 1, we hypothesized that the underlying risk variants have cis-regulatory effects in islets or other type 2 ..
  63. Wiklund F, Adami H, Zheng S, Stattin P, Isaacs W, Gronberg H, et al. Established prostate cancer susceptibility variants are not associated with disease outcome. Cancer Epidemiol Biomarkers Prev. 2009;18:1659-62 pubmed publisher
    ..We conclude that hitherto established prostate cancer susceptibility variants are not associated with the lethal potential of prostate cancer. ..
  64. Kang E, Kim M, Kim C, Nam C, Han S, Hur K, et al. Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea. Transplantation. 2009;88:693-8 pubmed publisher
    ..and rs5015480), CDKAL1 rs10946398, CDKN2A/B rs10811661, IGF2BP2 rs4402960, FTO rs8050136, WFS1 rs734312, JAZF1 rs864745, CDC123/CAMK1D rs12779790, TSPAN8 rs7961581, THADA rs7578597, ADAMTS9 rs4607103, NOTCH2 rs1092391, and ..
  65. Hooker S, Hernandez W, Chen H, Robbins C, Torres J, Ahaghotu C, et al. Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans. Prostate. 2010;70:270-5 pubmed publisher
    ..This finding further supports the need to perform GWAS and additional fine mapping in AAs to locate additional susceptibility loci. ..
  66. Zhou D, Liu Y, Zhang D, Liu S, Yu L, Yang Y, et al. Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese. J Hum Genet. 2010;55:810-5 pubmed publisher
    Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations...
  67. Kwak S, Park Y, Go M, Lee K, Kim S, Choi H, et al. A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans. Hum Mol Genet. 2014;23:4433-42 pubmed publisher
    ..2 × 10(-7)). In conclusion, we have identified genetic variants that are strongly associated with TSH level and anti-TPO antibody positivity in Koreans. Further replications and meta-analysis are required to confirm these findings. ..
  68. Haupt A, Guthoff M, Schäfer S, Kirchhoff K, Machicao F, Gallwitz B, et al. The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity. J Clin Endocrinol Metab. 2009;94:1775-80 pubmed publisher
    ..We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether their impact is influenced by insulin ..
  69. Chang B, Spangler E, Gallagher S, Haiman C, Henderson B, Isaacs W, et al. Validation of genome-wide prostate cancer associations in men of African descent. Cancer Epidemiol Biomarkers Prev. 2011;20:23-32 pubmed publisher
    ..We identified significant associations for SNP rs10486567 at JAZF1, rs10993994 at MSMB, rs12418451 and rs7931342 at 11q13, and rs5945572 and rs5945619 at NUDT10/11...
  70. Wen J, Rönn T, Olsson A, Yang Z, Lu B, Du Y, et al. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. PLoS ONE. 2010;5:e9153 pubmed publisher
  71. Sun J, Kader A, Hsu F, Kim S, Zhu Y, Turner A, et al. Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer. Prostate. 2011;71:421-30 pubmed publisher
    ..Men identified as high risk by SNP-based testing may be targeted for PCa screening or chemoprevention. The clinical impact on improving the effectiveness of these interventions can be and should be assessed. ..
  72. FitzGerald L, Kwon E, Koopmeiners J, Salinas C, Stanford J, Ostrander E. Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features. Clin Cancer Res. 2009;15:3231-7 pubmed publisher
  73. Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, et al. Underlying genetic models of inheritance in established type 2 diabetes associations. Am J Epidemiol. 2009;170:537-45 pubmed publisher
    ..Information on the genetic model of robustly replicated association signals derived from genome-wide association studies may be useful for predictive modeling and for designing biologic and functional experiments. ..
  74. Xu J, Kibel A, Hu J, Turner A, Pruett K, Zheng S, et al. Prostate cancer risk associated loci in African Americans. Cancer Epidemiol Biomarkers Prev. 2009;18:2145-9 pubmed publisher
    ..However, studies with larger numbers of AA subjects are needed, and this will likely require a major collaborative effort to combine multiple AA study populations. ..
  75. Talmud P, Hingorani A, Cooper J, Marmot M, Brunner E, Kumari M, et al. Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study. BMJ. 2010;340:b4838 pubmed publisher
  76. Micci F, Panagopoulos I, Bjerkehagen B, Heim S. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. Cancer Res. 2006;66:107-12 pubmed
    ..t(7;17)(p15;q21) leading to the fusion of two zinc finger genes, juxtaposed with another zinc finger (JAZF1) and joined to JAZF1 (JJAZ1), was described in a subset of ESS...
  77. Waters K, Le Marchand L, Kolonel L, Monroe K, Stram D, Henderson B, et al. Generalizability of associations from prostate cancer genome-wide association studies in multiple populations. Cancer Epidemiol Biomarkers Prev. 2009;18:1285-9 pubmed publisher
    ..05) noted with six variants: JAZF1, rs10486567 [odds ratio (OR), 1.23; 95% confidence interval (95% CI, 1.12-1.35); Xp11.2, rs5945572 (OR, 1...
  78. Soranzo N, Rivadeneira F, Chinappen Horsley U, Malkina I, Richards J, Hammond N, et al. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet. 2009;5:e1000445 pubmed publisher
    ..previously been described with weak statistical support (rs10472828 in NPR3, P-value = 3x10(-7) and rs849141 in JAZF1, P-value = 3.2x10(-11)). One locus (rs1182188 at GNA12) identifies the first height eQTL...
  79. Song G, Yan J, Li G, Chen Z. Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples. Reprod Biomed Online. 2015;30:275-80 pubmed publisher
    KIAA0319L, PXK and JAZF1 gene polymorphisms were investigated to determine whether they conferred susceptibility to unexplained recurrent pregnancy loss (URPL) in a group of Chinese Han patients...
  80. Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE. 2009;4:e7643 pubmed publisher
    ..0335 to 1.37E-12). But no significant association was detected between SNPs from WFS1, FTO, JAZF1, TSPAN8-LGR5, THADA, ADAMTS9, NOTCH2-ADAM30 and type 2 diabetes...
  81. Ueyama M, Nishida N, Korenaga M, Korenaga K, Kumagai E, Yanai H, et al. The impact of PNPLA3 and JAZF1 on hepatocellular carcinoma in non-viral hepatitis patients with type 2 diabetes mellitus. J Gastroenterol. 2016;51:370-9 pubmed publisher
    ..53, p = 1.05 × 10(-5)). Among individuals homozygous for the PNPLA3 G allele (n = 115), the frequency of the JAZF1 rs864745 G allele was significantly higher among DM-HCC individuals than DM-non-HCC individuals (OR 3.44, p = 0...
  82. Schleinitz D, Tonjes A, Bottcher Y, Dietrich K, Enigk B, Koriath M, et al. Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits. Horm Metab Res. 2010;42:14-22 pubmed publisher
    ..We performed an association study of 9 SNPs in or around JAZF1, CDC123/ CAMK1D, NOTCH2, BCL11A, ADAMTS9, VEGFA, DCD, THADA, and TSPAN8/ LGR5 with T2D and related quantitative ..
  83. Schulze M, Weikert C, Pischon T, Bergmann M, Al Hasani H, Schleicher E, et al. Use of multiple metabolic and genetic markers to improve the prediction of type 2 diabetes: the EPIC-Potsdam Study. Diabetes Care. 2009;32:2116-9 pubmed publisher
    ..002). Twenty SNPs did not improve discrimination beyond these characteristics (P = 0.69). Metabolic markers, but not genotyping for 20 diabetogenic SNPs, improve discrimination of incident type 2 diabetes beyond lifestyle risk factors. ..
  84. Wang Y, Ray A, Johnson E, Zuhlke K, Cooney K, Lange E. Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study. Prostate. 2011;71:225-31 pubmed publisher
  85. Zhao J, Bradfield J, Zhang H, Annaiah K, Wang K, Kim C, et al. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes. 2010;59:751-5 pubmed publisher
    ..of ADAMTS9, CDC123-CAMK1D, CDKAL1, CDKN2A/B, EXT2, FTO, HHEX-IDE, IGF2BP2, the intragenic region on 11p12, JAZF1, KCNQ1, LOC387761, MTNR1B, NOTCH2, SLC30A8, TCF7L2, THADA, and TSPAN8-LGR5...
  86. Song M, Zhao F, Ran L, Dolikun M, Wu L, Ge S, et al. The Uyghur population and genetic susceptibility to type 2 diabetes: potential role for variants in CDKAL1, JAZF1, and IGF1 genes. OMICS. 2015;19:230-7 pubmed publisher
    ..014), rs864745 (JAZF1) (p=0.032), and rs35767 (IGF1) (p=0.044). Carriers of rs7754840-C, rs35767-A, and rs864745-C risk alleles had a 2...