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DANKSAGUNG
Mein besonderer Dank gilt Herrn Prof. Dr. J. Bullerdiek für die wissenschaftliche Betreuung meiner Arbeit und für die Übernahme des Referates.
Herrn Prof. Dr. H. Wenk danke ich herzlich für die Übernahme des Koreferates.
Für seinen wissenschaftlichen und technischen Rat und seiner ständigen Diskussionsbereitschaft danke ich Herrn Dr. Piere Rogalla.
Darüber hinaus danke ich allen Mitarbeitern des Zentrums für Humangenetik.
Besonders danke ich Herrn Dr. Gazanfer Belge, Frau Dr. Cornelia Blank, Herrn Dr.
Lars Borrmann, Herrn Norbert Drieschner, Herrn Dr. Sven Hauke, Frau Dr. Maren Meiboom, Frau Heike Munzinger, Herrn Dr. Hugo Murua Escobar, Herrn Dr. Volkard Rippe und Frau Dr. Corina Rohen-Bullerdiek für ihre freundschaftliche und
technische Hilfe.
Abschließend gilt mein besonderer Dank meinem Mann und meinen Eltern für die moralische Unterstützung während meiner Dissertation.
Meinem Sohn Luca Johannes danke ich dafür, dass er mir Zeit gegeben hat diese Dissertationsschrift zu beenden.
PUBLIKATIONSÜBERSICHT
In der folgenden Übersicht sind die der vorliegenden Arbeit zugrunde liegenden Publikationen in der Reihenfolge, in der sie im Ergebnissteil erscheinen, aufgeführt.
I. Rogalla, P., Lemke, I., Bullerdiek, J. (2002). Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13-q15 and 13q12-q14. Cancer Genetics and Cytogenetics 133: 90-93.
II. Rogalla, P., Lemke, I., Kazmierczak, B., Bullerdiek, J. (2000). An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary
chondroid hamartomas with t(3;12)(q27-28;q14-15). Genes, Chromosomes &
Cancer 29: 363-366.
III. von Ahsen, I., Rogalla, P., Bullerdiek, J. (2005a). Expression pattern of the LPP-HMGA2 fusion transcript in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15). Cancer Genetics and Cytogenetics 163: 68-70.
IV. Lemke, I., Rogalla, P., Bullerdiek, J. (2001a). Large deletion of part of the HMGIC locus accompanying a t(3;12)(q27-28;q14-15) in a lipoma. Cancer Genetics and Cytogenetics 129: 161-164.
V. Lemke, I., Rogalla, P., Bullerdiek, J. (2001b). A novel LPP fusion gene indicates the crucial role of truncated LPP proteins in lipomas and pulmonary chondroid hamartomas. Cytogenetics and Cell Genetics 95: 153-156.
VI. Lemke, I., Rogalla, P., Grundmann, F., Kunze, W.-P., Haupt, R., Bullerdiek, J. (2002). Expression of the HMGA2-LPP fusion transcript in only 1 of 61
karyotypically normal pulmonary chondroid hamartomas. Cancer Genetic and Cytogenetics 138: 160-164.
VII. von Ahsen, I., Rogalla, P., Bullerdiek, J. (2005b). Mutations of the human high mobility group protein gene HMGA2 do not account for a majority of uterine leiomyomas. Molecular Human Reproduction (Eingereicht).
I.
Rogalla, P., Lemke, I., Bullerdiek, J. (2002).
Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13-q15 and 13q12-q14. Cancer Genetics and Cytogenetics 133: 90-93.
Eigenanteil an dieser Publikation:
- Planung und Durchführung aller Arbeiten
- Verfassen der Publikation in Zusammenarbeit mit Herrn Dr. P. Rogalla
Cancer Genetics and Cytogenetics 133 (2002) 90–93
Short communication
Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions
12q13 q15 and 13q12 q14
Piere Rogalla, Inga Lemke, Jörn Bullerdiek*
Center of Human Genetics, University of Bremen, Leobenerstr. ZGH, D-28359, Breman, Germany Received 3 August 2000; received in revised form 5 July 2001; accepted 6 July 2001
Abstract In a variety of benign solid human tumors the high mobility group protein gene HMGIC is affected by ab-errations involving the chromosomal region 12q14q15. Beside the two predominant alterations t(3;12) (q2728;q14q15) and t(12;14)(q14q15;q23q24), the t(12;13)(q14q15;q12q14) is another aber-ration observed recurrently in these tumors. Very recently, an HMGIC-LHFP (lipoma HMGIC fusion partner) fusion gene has been detected in a lipoma with a t(12;13). The results of the present study demon-strated the absence of the HMGIC-LHFP fusion in three pulmonary chondroid hamartomas (PCH) with complex aberrations involving chromosomal regions 12q13q15 and 13q12qq14 and one PCH with a simple t(12;13)(q1415;q13) by reverse transcription–polymerase chain reaction. Thus, intragenic rear-rangements within the LHFP gene leading to its fusion to HMGIC are not a consistent finding in mes-enchymal tumors with clonal aberrations of both chromosomal regions 12q13q15 and 13q12q14. © 2002 Elsevier Science Inc. All rights reserved.
1. Introduction
In a variety of benign solid human tumors, aberrations involving chromosomal region 12q1415 have been shown to affect the high mobility group protein gene HMGIC. Beside the two predominant alterations affecting HMGIC, that is, t(3;12)(q27q28;q14q15) and t(12;14)(q14q15;
q23q24), the t(12;13)(q14q15;q12q14) is another ab-erration that has been observed recurrently. Very recently, an HMGIC-LHFP fusion gene has been shown in a lipoma with that translocation [1]. In that fusion, the 5 part of HMGIC encoding three AT hooks was fused to the 3 part of LHFP (lipoma HMGIC fusion partner) encoding a pro-tein belonging to a new propro-tein family that as yet has not been further analyzed [1]. The question arises whether in other cases with t(12;13)(q14q15;q12q14) the HMGIC-LHFP can be found as well. To address to this question, we have analyzed cell cultures from four pulmonary chondroid hamartomas (PCH) by reverse transcription–polymerase chain reaction (RT-PCR) for the existence of the HMGIC-LHFP fusion gene.
2. Materials and methods
The cases were selected from a series of 317 PCH re-cently described [2,3]. Whereas three PCH showed complex aberrations involving the chromosomal regions 12q13q15 and 13q12q14, the remaining case had a simple t(12;
13)(q14q15;q13; Table 1). The cervical cancer cell lines HeLa and MRIH-186 served as negative controls for the molecular studies. As a positive control, a plasmid contain-ing an HMGIC-LHFP fusion fragment was used. To gener-ate this fusion fragment, we amplified an HMGIC and an LHFP fragment, respectively, by PCR and cloned into the pGem-Teasy vector (Promega, Mannheim, Germany). For cloning additional EcoRI restriction sites were introduced.
For amplification, the following primers were used:
HMGIC specific primers (forward: 5-CTT CAG CCC AGG GAC AAC-3; reverse: 5-CCG GAA TTC ATT TCC TAG GTC TGC CTC TTG-3) and LHFP specific primers (forward: 5-CCG GAA TTC GTG AAA TCG GCT GGG CCT ACT A-3; reverse: LHFP1596do [see Table 2]).
The forward HMGIC specific primers for the RT-PCR experiments have been used in several RT-PCR and 3 rapid amplification of cDNA ends experiments [4–7]. The corre-sponding LHFP specific reverse primers were selected from primer sets (Fig. 1; Table 2), allowing for the amplification of the normal LHFP transcript based on the cDNA of LHFP
* Corresponding author. Tel.: 49-421-218-3589; fax: 49-421-218-4239.
E-mail address: bullerdiek@uni-bremen.de (J. Bullerdiek).
P. Rogalla et al. / Cancer Genetics and Cytogenetics 133 (2002) 90–93 91
(Genbank accession number AF098807). RNA was isolated using the trizol reagent (GIBCO BRL, Eggenstein, Ger-many). cDNA was synthesized using a poly(A)-oligo (dt) 17 primer and M-MLV reverse transcriptase (GIBCO-BRL). We performed RT-PCR in a 100-l volume contain-ing 10 mM Tris/HCl, pH 8.0, 50 mM KCl, 1.5 mM MgCl2, 100 M dATP, 100 M dTTP, 100 M dGTP, 100 M dCTP, 200 nM forward primer, 200 nM reverse primer, 1 unit/100 l DNA Taq polymerase (Sigma, Deisenhofen, Germany), and cDNA derived from 250 ng RNA. Amplifi-cations were performed for 35 cycles (1 minute 94C, 1 minute 55C to 60C, 1 minute 72C). All PCR experiments were performed in a nested or heminested manner (Fig. 2).
3. Results
All PCR products were separated on 1.5% agarose gels resulting in several fragments of varying sizes and intensi-ties in all PCH used, but all PCR experiments failed to
am-plify fragments of the expected sizes. As one example, the results of a nested PCR experiment are shown in Fig. 2a. In all PCR experiments Southern blotting and hybridization using an HMGIC specific probe (Fig. 2b) and rehybridiza-tion using a LHFP specific probe (data not shown) con-firmed the lack of HMGIC-LHFP fusion transcripts. In con-trast, the HMGIC-LHFP fusion fragment was detectable in all positive controls. Probes were generated and digoxige-nin-labeled by PCR using HMGIC specific primers (for-ward: 5-GTG AGG GCG CGG GGC AGC CGT CCA CTT C-3; reverse: 5-CCT CTT CGG CAG ACT CTT GTG AGG ATG TCT-3) and the LHFP primers LHFP846up and LHFP1163do (see Table 2). For hybridization, the Ex-pressHyb hybridization solution (Clontech, Heidelberg, Germany) was used and detection was performed as
de-Table 1
Karyotypes of pulmonary chondroid hamartomas investigated in the present study
Case no. Karyotype
Ha79 46,XX,del(6)(p21.1),der(12)t(12;13)(p12 or p13;q12) t(12;17)(q15;p13),der(13)t(12;13)(q15;q12), der(17)t(6;17)(p21.1;p13)[18]
Ha147 46,XY,del(6)(q24),t(12;13)(q15;q13)[22]
Ha181 45,XX,12,der(13)t(12;13)(q13;q12),del(14)(q22q24), der(18)t(12;18)p11.2;p11.1)[9]
Ha228 46;XX,der(13)t(13;14)(q14;q24),der(14) t(12;14)(q15;q24)[19]
Table 2
LHFP specific primers used in the present study for RT-PCR analyses
Name Sequence
LHFP261 up 5-GGATTATCTGTGGGTCCCTGGTGATT-3 LHFP360 up 5-GCATCCAGCCTGACTTGTACTGG-3 LHFP746 up 5-GTTGATTGGTGCTGGCTGTG-3 LHFP775 up 5-CCTTGGGCTGGGACAGTGA-3 LHFP846 up 5-GTGAAATCGGCTGGGCCTACTA-3 LHFP886 do 5-AGCAGCATGGCGGCAGTG-3 LHFP923 low 5-GCTTCTGTTTCTTGCCCGAAAAG-3 LHFP1079 low 5-TGATTTTATCGGGTTTCATT-3 LHFP1163 do 5-GCCTTTGGTCCATTTTTCTCCATCAT-3 LHFP1596 do 5-TTGGCTTATTGGTCCATTTATTAGG-3
Positions of primers are given by the first nucletide position matching within the sense sequence of the cDNA of LHFP (Genbank accession num-ber AF098807).
Fig. 1. Schematic presentation of the cDNA structure of HMGIC and LHFP and PCR experiments used for the detection of the expected fusion transcript HMGIC-LHFP in PCH with aberrations involving the chromosomal regions 12q13q15 and 13q12q14. The 3 untranslated region (UTR) of HMGIC is not