Soft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3
2009-05-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Cytogenetics
Cytogenetics morphological
The t(2;22)(q31;q12) was the sole anomaly.
Genes Involved and Proteins
Gene name
SP3 (Sp3 transcription factor)
Location
2q31.1
Protein description
From N-term to C-term: a transactivation domain, a repressor domain, and 3 C2H2 zinc finger domains. Transcription factor.
Gene name
EWSR1 (Ewing sarcoma breakpoint region 1)
Location
22q12.2
Protein description
From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing.
Result of the chromosomal anomaly
Description
5 EWSR1 - 3 SP3. Fusion of EWSR1 exon 7 to exon 6 of SP3.
Description
The N terminal transactivation domain of EWSR1 was fused to the zinc fingers (DNA binding domain) of SP3.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
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Citation
Jean-Loup Huret
Soft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/6278/soft-tissues-small-round-cell-tumour-with-t(2;22)(q31;q12)-ewsr1-sp3
