| |  |
| |
| | TRA/TRD V-GENE: Green box: Functional; Red: Pseudogene. D-GENE: Blue: Functional. J-GENE: Yellow: Functional; Pale yellow: Open reading frame; Red: Pseudogene. C-GENE: Blue: Functional. for complete Figure, see: locus TRD, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark |
| |
| Description | The human TRD locus at 14q11.2 comprises a cluster of one TRDV gene (TRDV2), three TRDD segments, and four TRDJ segments, upstream of the unique TRDC gene; another TRDV gene (TRDV3) is localized downstream of the TRDC gene, in inverted orientation of transcription. This cluster spans 60 kb and is localized inside the TRA locus, between the TRAV genes and the TRAJ segments. One TRDV gene (TRDV1) is localized at 360 kb upstream of the TRDC gene, among the TRAV genes. Five variable genes have been found rearranged to both (D)J segments of the TRD locus and TRAJ segments, and can therefore be used for the synthesis of both delta and alpha chains. These genes are described as TRAV/DV. The TRDV genes are unique members of different subgroups. All the TRD genes are functional, with the exception of one TRAV/DV, which has been found either functional or as a pseudogene. Enhancer sequences have been described between the TRDJ3 and the TRDC gene. List of the human TRD genes |
| Entity | Translocations which frequently result from errors of the recombinase enzyme complexe (RAG1, RAG2, etc.), responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. TRDV, TRDD or TRDJ recombination signals or isolated heptamer are frequently observed at the breakpoints. |
| | |
| Entity | t(1;14)(p32;q11); involve TAL1 in 1p32 |
| Prognosis | median survival > 5 yrs in children |
| | |
| Entity | t(8;14)(q24;q11); involve MYC in 8q24 |
| Disease | T-cell acute lymphocytic leukemia (ALL); rare |
| | |
| Entity | t(10;14)(q24;q11); involve HOX11 in 10q24 |
| Disease | T- cell acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL) |
| Prognosis | not unfavourable |
| | |
| Entity | t(11;14)(p13;q11); involve RBTN2 in 11p13 |
| Disease | T-cell acute lymphocytic leukemia (ALL) |
| | |
| Entity | t(11;14)(p15;q11); involve RBTN1 in 11p15 |
| Disease | T-cell Acute lymphocytic leukemia (ALL) |
| | |
| Entity | t(14;14)(q11;q32), inv(14)(q11q32); involve TCL1 in 14q32 |
| Disease | T-cell prolymphocytic leukemia (T-PLL) and adult T cell leukemia/lymphoma |
| Prognosis | poor |
| | |