Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(3;12)(q27;p13) GAPDH/BCL6

Written2010-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1337

Clinics and Pathology

Disease Non Hodgkin lymphomas (NHL)
Epidemiology One case to date, a 78-year-old female patient with a multifocal lymphoma, CD20+ diffuse large B-cell lymphoma (DLBCL) type, presenting as a primary central nervous system lymphoma (PCNSL) (Montesinos-Rongen et al., 2003). PCNSL are extra nodal NHL localized to -and remaining in- the central nervous system.

Genes involved and Proteins

Gene NameBCL6 (B-Cell Lymphoma 6)
Location 3q27.3
Protein 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).
Gene NameGAPDH (glyceraldehyde-3-phosphate dehydrogenase)
Location 12p13.31
Protein 335 amino acids; possess a nucleotide binding site for NAD+, and sites for glyceraldehyde 3-phosphate binding; catalyzes the phosphorylation and oxidation of glyceraldehyde-3-phosphate to 1,3-biphosphoglycerate (interconversion), using NAD+ as electron acceptor. Role in endocytosis and in nuclear membrane assembly. Associates with microtubules and RAB2, which stimulates the recruitment of dynein, to regulates microtubule motility and cargo transport. Also binds mRNA and t-RNA; may participate in tRNA export and mRNA stability. Role in the cell cycle, in DNA repair, and in apoptosis associated with oxidative stress (reviews in Sirover, 1999; Hara and Snyder, 2006; Hara et al., 2006; Colell et al., 2009).

Result of the chromosomal anomaly

Hybrid gene
Description Breakpoint in the intron 2 of GAPDH; leads to the juxtaposition of the GAPDH promotor region with the 2 first exons and the entire BCL6, inducing deregulated expression of BCL6.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Ambivalent role of BCL6 in cell survival and transformation.
Albagli-Curiel O.
Oncogene. 2003 Jan 30;22(4):507-16.
PMID 12555064
 
Novel roles for GAPDH in cell death and carcinogenesis.
Colell A, Green DR, Ricci JE.
Cell Death Differ. 2009 Dec;16(12):1573-81. Epub 2009 Sep 25.
PMID 19779498
 
GAPDH as a sensor of NO stress.
Hara MR, Cascio MB, Sawa A.
Biochim Biophys Acta. 2006 May;1762(5):502-9. Epub 2006 Mar 9.
PMID 16574384
 
Nitric oxide-GAPDH-Siah: a novel cell death cascade.
Hara MR, Snyder SH.
Cell Mol Neurobiol. 2006 Jul-Aug;26(4-6):527-38. Epub 2006 Apr 22.
PMID 16633896
 
Molecular characterization of BCL6 breakpoints in primary diffuse large B-cell lymphomas of the central nervous system identifies GAPD as novel translocation partner.
Montesinos-Rongen M, Akasaka T, Zuhlke-Jenisch R, Schaller C, Van Roost D, Wiestler OD, Siebert R, Deckert M.
Brain Pathol. 2003 Oct;13(4):534-8.
PMID 14655758
 
New insights into an old protein: the functional diversity of mammalian glyceraldehyde-3-phosphate dehydrogenase.
Sirover MA.
Biochim Biophys Acta. 1999 Jul 13;1432(2):159-84.
PMID 10407139
 

Citation

This paper should be referenced as such :
Huret, JL
t(3;12)(q27;p13)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1075-1076.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0312q27p13ID1337.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes BCL6

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;12)(q27;p13) GAPDH/BCL6

External links

arrayMap (UZH-SIB Zurich)GAPDH (12p13.31) BCL6 (3q27.3)

GAPDH (12p13.31) BCL6 (3q27.3)

GAPDH (12p13.31) BCL6 (3q27.3)

Mitelman databaset(3;12)(q27;p13) [Case List]    t(3;12)(q27;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
Mitelman databaseGAPDH/BCL6 [MCList]  GAPDH (12p13.31) BCL6 (3q27.3)
Mitelman databaseGAPDH/BCL6 [MCList]  GAPDH (12p13.31) BCL6 (3q27.3)
TICdbGAPDH/BCL6  GAPDH (12p13.31) BCL6 (3q27.3)
 
Disease databaset(3;12)(q27;p13) GAPDH/BCL6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 17:19:25 CEST 2017


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.