t(3;3)(q27;q27) ST6GAL1/BCL6
del(3)(q27q27) ST6GAL1/BCL6

2012-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Non Hodgkin lymphoma

Clinics

Two cases of follicular lymphoma transformed to diffuse aggressive lymphoma, from a study with no individual data (Akasaka et al., 2003; cited by Ohno, 2006).

Genes Involved and Proteins

Gene name
ST6GAL1 (ST6 beta-galactoside alpha-2,6-sialyltransferase 1)
Location
3q27.3
Note
ST6GAL1 (ST6 beta-galactosamide alpha-2,6-sialyltranferase 1) is also known under the name of SIAT1, and was described as such in the Alaskas report.
Protein description
406 amino acids; glycosyltransferase (Wu et al., 2011).
Gene name
BCL6 (B-Cell Lymphoma 6)
Location
3q27.3
Protein description
706 amino acids; composed of a NH2-term BTB/POZ domain (amino acids 1-130 (32-99 according to Swiss-Prot) which mediates homodimerization and protein-protein interactions with other corepressors (including HDAC1 and NCOR2/SMRT to constitute a large repressing complex, another transcription repression domain (191-386), PEST sequences (300-417) with a KKYK motif (375-379), and six zinc finger at the C-term (518-541, 546-568, 574-596, 602-624, 630-652, 658-681), responsible for sequence specific DNA binding. Transcription repressor; recognizes the consensus sequence: TTCCT(A/C)GAA (Albagli-Curiel, 2003). Role in germinal centers of lymphoid follicles. BCL6 prevents ATM and TP53 to induce apoptosis in response to DNA rearrangements such as somatic hypermutation and class switch recombination. Therefore essential for normal B cell development.

Result of the Chromosomal Anomaly

Note

ST6GAL1 and BCL6 are normally separated by 699.5 kb.

Bibliography

Pubmed IDLast YearTitleAuthors
127386802003BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.Akasaka T et al
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
171429542006Pathogenetic and clinical implications of non-immunoglobulin ; BCL6 translocations in B-cell non-Hodgkin's lymphoma.Ohno H et al
210815082011Universal phosphatase-coupled glycosyltransferase assay.Wu ZL et al

Summary

Fusion gene

ST6GAL1/BCL6 ST6GAL1 (3q27.3) BCL6 (3q27.3) M t(3;3)(q27;q27)

Citation

Jean-Loup Huret

t(3;3)(q27;q27) ST6GAL1/BCL6
del(3)(q27q27) ST6GAL1/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/haematological/2128/t(3;3)(q27;q27)

External Links