ASPSCR1

ASPSCR1 (Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1), also known as ASPL (Alveolar Soft Part Sarcoma Locus), is a gene that in humans is located on chromosome 17 (17q25). It is involved in a specific chromosomal translocation t(X;17)(p11;q25) associated with alveolar soft part sarcoma (ASPS), a rare type of soft tissue sarcoma. This translocation results in the fusion of the ASPSCR1 gene on chromosome 17 with the TFE3 gene on the X chromosome, creating a fusion protein that plays a role in the development of ASPS.

Function

The normal function of the ASPSCR1 protein is not fully understood. However, it is believed to be involved in nuclear transport mechanisms and may play a role in the regulation of gene expression and cell cycle control. The ASPSCR1-TFE3 fusion protein resulting from the chromosomal translocation in ASPS is thought to act as an aberrant transcription factor, altering the expression of genes involved in cellular growth and differentiation, which contributes to the tumorigenesis of ASPS.

Clinical Significance

The identification of the ASPSCR1-TFE3 fusion gene has significant clinical implications. It serves as a diagnostic marker for ASPS, helping to distinguish it from other soft tissue sarcomas. Additionally, understanding the molecular mechanisms underlying ASPS through the study of ASPSCR1 and TFE3 may lead to the development of targeted therapies for this rare sarcoma.

Genetics

The ASPSCR1 gene contains several exons and encodes a protein that is involved in various cellular processes. The t(X;17)(p11;q25) translocation that involves ASPSCR1 is specific to alveolar soft part sarcoma and is used as a diagnostic marker for this disease. The fusion of ASPSCR1 with TFE3 disrupts the normal function of both genes, contributing to the pathogenesis of ASPS.

Research Directions

Research on ASPSCR1 is focused on elucidating its normal biological functions as well as understanding how the ASPSCR1-TFE3 fusion protein contributes to the development of alveolar soft part sarcoma. Studies are also exploring potential therapeutic strategies targeting the molecular abnormalities in ASPS, including the ASPSCR1-TFE3 fusion protein.