Download Leukaemia Section t(3;9)(q27;p24) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(3;9)(q27;p24)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: July 2009
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0309q27p24ID1488.html
DOI: 10.4267/2042/44786
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
domain (amino acids 72-118) and a Proline/Serine-rich
region (aa 322-347) according to SwissProt; binds
DNA. Transcription factor; sex determination gene of
major role in the platypus and in birds; expressed at a
higher level in the embryonic testis than in the
embryonic ovary in vertebrates. Postnatally, DMRT1 is
only expressed in undifferentiated spermatogonia and
in Sertoli cells, and silenced in granulosa cells by
repression of DMRT1 promoter by FOXL2 (Lei et al.,
2009). Required for testicular development in
vertebrates.
Clinics and pathology
Disease
Non Hodgkin lymphoma (NHL).
Epidemiology
Only one case to date, a gastric lymphoma (Chen et al.,
2006).
Prognosis
No data.
Result of the chromosomal
anomaly
Genes involved and proteins
BCL6
Location: 3q27
Protein
706 amino acids; composed of a NH2-term BTB/POZ
domain (amino acids 1-130 (32-99 according to SwissProt)) which mediates homodimerization and proteinprotein 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 Cterm (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).
Hybrid gene
Description
5' DMRT1 - 3' BCL6.
References
Albagli-Curiel O. Ambivalent role of BCL6 in cell survival and
transformation. Oncogene. 2003 Jan 30;22(4):507-16
Chen YW, et al. High BCL6 expression predicts better
prognosis, independent of BCL6 translocation status,
translocation partner, or BCL6-deregulating mutations, in
gastric lymphoma. Blood. 2006 Oct 1;108(7):2373-83
Lei N, Karpova T, Hornbaker KI, Rice DA, Heckert LL. Distinct
transcriptional mechanisms direct expression of the rat Dmrt1
promoter in sertoli cells and germ cells of transgenic mice. Biol
Reprod. 2009 Jul;81(1):118-25
DMRT1
This article should be referenced as such:
Location: 9p24
Protein
373 amino acids; contains a DM (Doublesex/Mab-3)
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(6)
Huret JL. t(3;9)(q27;p24). Atlas Genet Cytogenet Oncol
Haematol. 2010; 14(6):595.
595