Synovial sarcoma, X breakpoint (SSX) refers to a group of genes rearranged in synovial sarcoma. [1]
They include:
The group also has several associated pseudogenes, and the interacting protein SSX2IP.
The translocation t(X;18) creates a fusion of the SYT gene(at 18q11) with either SSX1 or SSX2 (both at Xp11). Neither SYT, nor the SSX proteins contain DNA-binding domains. Instead, they appear to be transcriptional regulators whose actions are mediated primarily through protein–protein interactions, with BRM in the case of SYT, and with Polycomb group repressors in the case of SSX. [2]
A synovial sarcoma is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in proximity to joint capsules and tendon sheaths. It is a type of soft-tissue sarcoma.
A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neoplasia. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker.
Ectopic is a word used with a prefix, ecto, meaning “out of place.” Ectopic expression is an abnormal gene expression in a cell type, tissue type, or developmental stage in which the gene is not usually expressed. The term ectopic expression is predominately used in studies using metazoans, especially in Drosophila melanogaster for research purposes.
Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows slowly and whose cell of origin is unknown.
Ewing sarcoma is a type of cancer that may be a bone sarcoma or a soft-tissue sarcoma. Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. The most common areas where it begins are the legs, pelvis, and chest wall. In about 25% of cases, the cancer has already spread to other parts of the body at the time of diagnosis. Complications may include a pleural effusion or paraplegia.
RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2. This region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing Ewing sarcoma and other members of the Ewing family of tumors. These translocations can occur due to chromoplexy, a burst of complex chromosomal rearrangements seen in cancer cells. The normal EWS gene encodes an RNA binding protein closely related to FUS (gene) and TAF15, all of which have been associated to amyotrophic lateral sclerosis.
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.
ERG is an oncogene. ERG is a member of the ETS family of transcription factors. The ERG gene encodes for a protein, also called ERG, that functions as a transcriptional regulator. Genes in the ETS family regulate embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis.
AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.
Protein SSX2 is a protein that in humans is encoded by the SSX2 gene.
Protein SSXT is a protein that in humans is encoded by the SS18 gene.
Nuclear protein 1 is a protein that in humans is encoded by the NUPR1 gene.
Protein SSX1 is a protein that in humans is encoded by the SSX1 gene.
Afadin- and alpha-actinin-binding protein is a protein that in humans is encoded by the SSX2IP gene. It has been shown that it functions together with WDR8 in centrosome maturation, ensuring proper spindle length and orientation. The SSX2IP-WDR8 complex additionally promotes ciliary vesicle docking during ciliogenesis.
Protein SSX4 is a protein that in humans is encoded by the SSX4 gene.
Protein AF-10 is a protein that in humans is encoded by the MLLT10 gene.
SS18-like protein 1 is a protein that in humans is encoded by the SS18L1 gene.
Protein SSX5 is a protein that in humans is encoded by the SSX5 gene.
Biphenotypic sinonasal sarcoma is a newly recognized, very rare, low grade malignant tumor of the nasal cavity which was formerly probably included in fibrosarcoma and synovial sarcoma cases. It was incorporated into the fourth edition of the World Health Organization Classification of Head and Neck Tumours, published in 2017.
SSX family member 6, pseudogene is a protein that in humans is encoded by the SSX6 gene.