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Gene Review:

JAZF1 - JAZF zinc finger 1

Homo sapiens

Synonyms: DKFZp761K2222, Juxtaposed with another zinc finger protein 1, TAK1-interacting protein 27, TIP27, ZNF802, ...

Huang, H.Y. et al., Koontz, J.I. et al., Micci, F. et al., Hrzenjak, A. et al., Nakajima, T. et al.

Hrzenjak, Moinfar, Tavassoli, Strohmeier, Kremser, Zatloukal, Denk,

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Disease relevance of JAZF1

Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors [1].
Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors; however, the fusion appears to be rarer among endometrial stromal sarcomas that would be considered high-grade according to certain classification schemes [1].

High impact information on JAZF1

The aim of this study was to evaluate the frequency of the JAZF1-JJAZ1 gene fusion among primary uterine, metastatic, and primary extrauterine ESTs of various histologic types and its role as a possible diagnostic adjunct [2].
Hence, the diagnostic utility of a JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to the classic histologic subset [2].
Most ESTs of classic histology showed evidence of JAZF1-JJAZ1 fusion (4 of 5 cases), whereas only one mixed smooth muscle ESN of 10 variant cases was positive [2].
Endometrial stromal tumors (ESTs), including low-grade endometrial stromal sarcomas (LGESSs) and endometrial stromal nodules (ESNs) of classic histology, exhibit characteristic morphologic features and contain the nonrandom t(7;17)(p15; q21), which results in the fusion of two novel genes, JAZF1 and JJAZ1 [2].
Recently, a gene fusion on chromosome 7 that includes two zinc-finger genes (JAZF1 and JJAZ1) has been discovered in these tumors [3].

Biological context of JAZF1

We have identified two zinc finger genes, which we have termed JAZF1 and JJAZ1, at the sites of the 7p15 and 17q21 breakpoints [1].
Using a nonnested reverse transcriptase-polymerase chain reaction approach, we assayed for JAZF1-JJAZ1 gene fusion transcripts in 10 cases with available fresh-frozen tissue [2].
In one of the three tumors, a t(7;17) was seen; molecular genetic studies identified the JAZF1/JJAZ1 fusion gene in this case [4].
Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17) [4].

Analytical, diagnostic and therapeutic context of JAZF1

Confocal microscopy showed that in the nucleus, TIP27 and TAK1 co-localize [5].

References

Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Koontz, J.I., Soreng, A.L., Nucci, M., Kuo, F.C., Pauwels, P., van Den Berghe, H., Cin, P.D., Fletcher, J.A., Sklar, J. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. Huang, H.Y., Ladanyi, M., Soslow, R.A. Am. J. Surg. Pathol. (2004) [Pubmed]
JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. Hrzenjak, A., Moinfar, F., Tavassoli, F.A., Strohmeier, B., Kremser, M.L., Zatloukal, K., Denk, H. The Journal of molecular diagnostics : JMD. (2005) [Pubmed]
Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). Micci, F., Walter, C.U., Teixeira, M.R., Panagopoulos, I., Bjerkehagen, B., Saeter, G., Heim, S. Cancer Genet. Cytogenet. (2003) [Pubmed]
TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4. Nakajima, T., Fujino, S., Nakanishi, G., Kim, Y.S., Jetten, A.M. Nucleic Acids Res. (2004) [Pubmed]

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