t(12;17)(p13;q11) TAF15/ZNF384

2007-11-01   Roberta La Starza , Cristina Mecucci , Paolo Gorello 

1.Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

Clinics and Pathology

Disease

Acute leukemias

Phenotype stem cell origin

Pro-B acute lymphoblastic leukemia with expression of myeloid antigens (ANPEP/CD13 and/or CD33, and less frequently FUT4/CD15); acute myeloid leukemia.

Prognosis

Relatively good prognosis.

Genes Involved and Proteins

Gene name
ZNF384 (Zinc Finger protein 384)
Location
12p13.31
Protein description
Belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers. Nucleocytoplasmic shuttling protein and transcription factor.
Gene name
TAF15 (TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa)
Location
17q12

Result of the Chromosomal Anomaly

Description

5 TAF15 - 3 ZNF384
Atlas Image
Schematic representation of the TAF15-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; RGG, Arg-Gly-Gly rich region, (RNA binding domain); LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains QA: Gln-Ala repeat (see also Martini et al., 2002).

Bibliography

Pubmed IDLast YearTitleAuthors
120670682001Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors.Bidwell JP et al
168689672006Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter.Fan Z et al
165101392006Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?Janssen H et al
157815762005Identifying genes that regulate bone remodeling as potential therapeutic targets.Krane SM et al
159908652005CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.La Starza R et al
123597452002Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.Martini A et al

Summary

Fusion gene

TAF15/ZNF384 TAF15 (17q12) ZNF384 (12p13.31) M t(12;17)(p13;q12)|TAF15/ZNF384 TAF15 (17q12) ZNF384 (12p13.31) TIC
Atlas Image
A) schematic representation of the reciprocal t(12;17)(p13;q11) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3 ZNF384 while RP11-101F21 partially overlaps with the 5 end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).

Citation

Roberta La Starza ; Cristina Mecucci ; Paolo Gorello

t(12;17)(p13;q11) TAF15/ZNF384

Atlas Genet Cytogenet Oncol Haematol. 2007-11-01

Online version: http://atlasgeneticsoncology.org/haematological/1369/t(12;17)(p13;q11)

External Links