PMID- 19729909
OWN - NLM
STAT- MEDLINE
DCOM- 20090917
LR  - 20090904
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 125
IP  - 2
DP  - 2009
TI  - The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with 
      chronic lymphocytic leukemia maps close to the putative promoter region of the 
      DMRT2 gene.
PG  - 81-6
LID - 10.1159/000227830 [doi]
AB  - B-cell chronic lymphocytic leukemia (B-CLL) is a very common hematological 
      malignancy. Although several alterations in different loci have been identified 
      and established as prognostic factors the pathogenetic cascade remains obscure. 
      Here we give an account on a 71-year-old man with B-CLL and a translocation 
      t(6;9) in his diagnostic bone marrow. Subsequent chromosome analysis of his blood 
      lymphocytes revealed a constitutional karyotype 46,XY,t(6;9) (p12;p24) that has 
      not been previously reported. Seeking for gene disruption correlated with the 
      B-CLL we precisely mapped both breakpoints by fluorescence in situ hybridization 
      (FISH) analysis with chromosome-specific bacterial artificial chromosome (BAC) 
      clones and their long-range polymerase chain reaction (LRPCR) subfragments. An 
      11-kb LRPCR subfragment derived from RP11-399A15 was found to span the breakpoint 
      at 6p12.1. FISH analysis with a 12-kb LRPCR fragment derived from RP11-147I11 
      which overlaps with RP11-110M16 as well as with a cDNA for DMRT2 (doublesex and 
      mab-3 related transcription factor 2) maps the 9p24.3 breakpoint maximum 10 kb 
      upstream from DMRT2. In silico analysis of the transcripts within the vicinity of 
      the breakpoints revealed that the translocation does not disrupt any known genes 
      but could affect the putative DMRT2 promoter. Long range effects on gene 
      expression cannot be excluded so far.
CI  - (c) 2009 S. Karger AG, Basel.
FAU - Russel, J
AU  - Russel J
AD  - Institut fur Humangenetik und Medizinische Biologie, Martin-Luther-Universitat 
      Halle-Wittenberg, Halle/Saale, Germany.
FAU - Dutta, U
AU  - Dutta U
FAU - Wand, D
AU  - Wand D
FAU - Schlote, D
AU  - Schlote D
FAU - Hansmann, I
AU  - Hansmann I
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090831
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (DMRT2 protein, human)
RN  - 0 (DNA, Complementary)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Aged
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 6
MH  - *Chromosomes, Human, Pair 9
MH  - DNA, Complementary/genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Databases, Nucleic Acid
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
MH  - Male
MH  - Polymerase Chain Reaction
MH  - *Promoter Regions, Genetic
MH  - Telomere
MH  - Transcription Factors/*genetics
EDAT- 2009/09/05 06:00
MHDA- 2009/09/18 06:00
CRDT- 2009/09/05 06:00
PHST- 2009/03/05 00:00 [accepted]
PHST- 2009/09/05 06:00 [entrez]
PHST- 2009/09/05 06:00 [pubmed]
PHST- 2009/09/18 06:00 [medline]
AID - 000227830 [pii]
AID - 10.1159/000227830 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2009;125(2):81-6. doi: 10.1159/000227830. Epub 2009 Aug 31.