t(3;6)(q27;q14) SNHG5/BCL6

2012-11-01   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

The t(3;6)(q27;q14) was found in a human diffuse large B-cell lymphoma cell line (Tanaka et al., 2000), and in a case of follicular lymphoma transformed to diffuse aggressive lymphoma, from a study with no individual data (Akasaka et al., 2003).

Genes Involved and Proteins

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.
Gene name
SNHG5 (small nucleolar RNA host gene 5)
Location
6q14.3
Protein description
SNHG5 is also known as U50HG. SNHG5 exons do not encode a polypeptide product (small nucleolar RNA (snoRNA) sequence). SNHG5 is composed of six exons. It possesses an oligopyrimidine tract that is characteristic of the 5-terminal oligopyrimidine (5TOP gene family) which have been shown to regulate cell growth.

Result of the Chromosomal Anomaly

Description

Breakpoint in BCL6 first intron.

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
107924662000Intronic U50 small-nucleolar-RNA (snoRNA) host gene of no protein-coding potential is mapped at the chromosome breakpoint t(3;6)(q27;q15) of human B-cell lymphoma.Tanaka R et al

Summary

Fusion gene

SNHG5/BCL6 SNHG5 (6q14.3) BCL6 (3q27.3) M|SNHG5/BCL6 SNHG5 (6q14.3) BCL6 (3q27.3) M t(3;6)(q27;q14)

Citation

Jean-Loup Huret

t(3;6)(q27;q14) SNHG5/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/haematological/2133/t(3;6)(q27;q14)

External Links