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The PAX3 (paired box gene 3) gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (pax1-pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the …
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Hybrid Gene: Note: A variant PAX3-FOXO4 fusion (also known an PAX3-AFX1) associated with a t(X;13)(q13:q35) has been identified in one ARMS case.Generation of chimeric genes by the 2;13 translocation in ARMS. The exons of the wild-type and fusion genes are shown as boxes above each map and the translocation breakpoint distributions are shown as line segments below the map of …
Embryonic origin: ARMS tends to occur within skeletal muscle and is postulated to derive from precursor cells within the skeletal muscle. Therefore, the embryonic derivation of these tumors is presumed to be mesoderm, the same as that of skeletal muscle.
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Chromatin looping allows enhancer-bound regulatory factors to influence transcription. Large domains, referred to as topologically associated domains, participate in genome organization. However, the …