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Startseite Universitätsklinikum Heidelberg Institut für Humangenetik
Institut für Humangenetik
Kliniken &… Institute Humangenetik Forschung Forschung in der… Forschung in der… Molekulare Cytogenetik…
Forschung in der Diagnostik

Molekulare Cytogenetik

Portrait von Prof. Dr. sc. hum. Anna Jauch

Prof. Dr. sc. hum. Anna Jauch


06221 56-5407
06221 56-5091

Methoden wie die Fluoreszenz in situ Hybridisierung (FISH), die Vergleichende Genomische Hybridisierung (comparative genomic hybridization, CGH) und die 24-Farben-FISH-Analyse (Multiplex-FISH) für Mensch und Maus sind im Labor etabliert und bilden die Grundlage für eine Reihe von Forschungsprojekten.

Schwerpunkte des Forschungsinteresses sind:

  • die Anwendung molekular-cytogenetischer Techniken zur Identifizierung diagnostisch und prognostisch relevanter Chromosomenaberrationen bei Patienten mit Multiplem Myelom,
  • Chromothripsis als Mechanismus klonaler Evolution bei der akuten myeloischen Leukämie (AML),
  • SNP/CN Analysen zur Erkennung rekurrenter genomischer Imbalancen bei systemischer AL Amyloidose und Multiplem Myelom (MM)
  • M-FISH zum Nachweis und der Charakterisierung numerischer und struktureller Chromosomenaberrationen in soliden Tumoren, in Zellen mit dysfunktionellen Telomeren und in der Stammzellforschung (Mensch und Maus).
  1. Weinhold N, Kirn D, Seckinger A, Hielscher T, Granzow M, Bertsch U, Egerer G, Salwender H, Blau IW, Weisel K, Hillengass J, Raab MS, Hose D, Goldschmidt H, Jauch A (2015). Concomitant gain of 1q21 and MYC translocation define a poor prognostic subgroup of hyperdiploid multiple myeloma. Haematologica 2016 Mar;101(3):e116-9. doi: 10.3324/haematol.2015.136929. Epub 2015 Nov 26.
  2. Klinke OK, Mizani T, Baldwin G, Bancel B, Devouassoux-Shisheboran M, Scoazec JY, Bringuier PP, Feederle R, Jauch A, Hinderhofer K, Taniere P, Delecluse HJ (2015). KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST. PLoS One 2015 Jun 23;10(6):e0130149. doi: 10.1371/journal.pone.0130149.
  3. Dietrich S, Hüllein J, Lee SC, Hutter B, G. onzalez D, Jayne S, Dyer MJ, Oleś M, Else M, Liu X, Słabicki M, Wu B, Troussard X, Dürig J, Andrulis M, Dearden C, von Kalle C, Granzow M, Jauch A, Fröhling S, Huber W, Meggendorfer M, Haferlach T, Ho AD, Richter D, Brors B, Glimm H, Matutes E, Abdel Wahab O, Zenz T (2015). Recurrent CDKN1B (p27) mutations in hairy cell leukemia. Blood 20;126(8):1005-8.
  4. Siler U, Paruzynski A, Holtgreve-Grez H, Kuzmenko E, Koehl U, Renner ED, Alhan C, de Loosdrecht AA, Schwäble J, Pfluger T, Tchinda J, Schmugge M, Jauch A, Naundorf S, Kühlcke K, Notheis G, Güngor T, Kalle CV, Schmidt M, Grez M, Seger R, Reichenbach J (2015). Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing. Curr Gene Ther 15(4):416-27.
  5. Blume CJ, Hotz-Wagenblatt A, Hüllein J, Sellner L, Jethwa A, Stolz T, Slabicki M, Lee K, Sharathchandra A, Benner A, Dietrich S, Oakes CC, Dreger P, te Raa D, Kater AP, Jauch A, Merkel O, Oren M, Hielscher T, Zenz T (2015). p53-dependent non-coding RNA networks in chronic lymphocytic leukemia. Leukemia 29(10):2015-23.
  6. Walter D, Lier A, Geiselhart A, Thalheimer FB, Huntscha S, Sobotta MC, Moehrle B, Brocks D, Bayindir I, Kaschutnig P, Muedder K, Klein C, Jauch A, Schroeder T, Geiger H, Dick TP, Holland-Letz T, Schmezer P, Lane SW, Rieger MA, Essers MA, Williams DA, Trumpp A, Milsom MD (2015). Exit from dormancy provokes DNA-damage-induced attrition in haematopoietic stem cells. Nature 520(7548):549-52.
  7. Merz M, Salwender H, Haenel M, Mai EK, Bertsch U, Kunz C, Hielscher T, Blau IW, Scheid C, Hose D, Seckinger A, Jauch A, Hillengass J, Raab MS, Schurich B, Munder M, Schmidt-Wolf IG, Gerecke C, Lindemann HW, Zeis M, Weisel K, Duerig J, Goldschmidt H (2015). Subcutaneous versus intravenous bortezomib in two different induction therapies for newly diagnosed multiple myeloma: Interim analysis from the prospective GMMG-MM5 trial. Haematologica 100(7):964-9.
  8. Mai EK, Hielscher T, Kloth JK, Merz M, Shah S, Raab MS, Hillengass M, Wagner B, Jauch A, Hose D, Weber MA, Delorme S, Goldschmidt H, Hillengass J. (2015). A magnetic resonance imaging-based prognostic scoring system to predict outcome in transplant-eligible patients with multiple myeloma. Haematologica 100(6):818-25.
  9. Mai EK, Bertsch U, Dürig J, Kunz C, Haenel M, Blau IW, Munder M, Jauch A, Schurich B, Hielscher T, Merz M, Huegle-Doerr B, Seckinger A, Hose D, Hillengass J, Raab MS, Neben K, Lindemann HW, Zeis M, Gerecke C, Schmidt-Wolf IG, Weisel K, Scheid C, Salwender H, Goldschmidt H (2015). Phase III trial of bortezomib, cyclophosphamide, dexamethasone (VCD) versus bortezomib, doxorubicin, dexamethasone (PAd) in newly-diagnosed myeloma. Leukemia 29(8):1721-9.
  10. Weinhold N, Försti A, da Silva Filho MI, Nickel J, Campo C, Hoffmann P, Nöthen MM, Hose D, Goldschmidt H, Jauch A, Langer C, Hegenbart U, Schönland SO, Hemminki K (2014). Immunoglobulin light-chain amyloidosis shares genetic susceptibility with multiple myeloma. Leukemia 28(11):2254-2256.
  11. Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JWG, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H (2014). Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation. PLoS One 9(3):e90894.
  12. Merz M, Hielscher T, Wagner B, Sauer S, Shah S, Raab MS, Jauch A, Neben K, Hose D, Egerer G, Weber MA, Delorme S, Goldschmidt H, Hillengass J (2014). Predictive value of longitudinal whole-body magnetic resonance imaging in patients with smoldering multiple myeloma. Leukemia 28(9):1902-1908.
  13. Moehler TM, Seckinger A, Hose D, Andrulis M, Moreaux J, Hielscher T, Willhauck-Fleckenstein M, Merling A, Bertsch U, Jauch A, Goldschmidt H, Klein B, Schwartz-Albiez R (2013). The glycome of normal and malignant plasma cells. PLoS One 2013 Dec 26;8(12):e83719.
  14. Weinhold N, Johnson DC, Chubb D, Chen B, Försti A, Hosking FJ, Broderick P, Ma YP, Dobbins SE, Hose D, Walker BA, Davies FE, Kaiser MF, Li NL, Gregory WA, Jackson GH, Witzens-Harig M, Neben K, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Ross FM, Jauch A, Goldschmidt H, Houlston RS, Morgan GJ, Hemminki K (2013) The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet 45(5):522-5.
  15. Chubb D, Weinhold N, Broderick P, Chen B, Johnson DC, Försti A, Vijayakrishnan J, Migliorini G, Dobbins SE, Holroyd A, Hose D, Walker BA, Davies FE, Gregory WA, Jackson GH, Irving JA, Pratt G, Fegan C, Fenton JA, Neben K, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Ross FM, Straka C, Einsele H, Langer C, Dörner E, Allan JM, Jauch A, Morgan GJ, Hemminki K, Houlston RS, Goldschmidt H (2013). Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nat Genet 45(10):1221-5.
  16. Pfeiffer MJ, Esteves TC, Balbach ST, Araúzo-Bravo MJ, Stehling M, Jauch A, Houghton FD, Schwarzer C, Boiani M. (2013). Reprogramming of two somatic nuclei in the same ooplasm leads to pluripotent embryonic stem cells. Stem Cells 31(11):2343-53.
  17. Seckinger A, Meißner T, Moreaux J, Depeweg D, Hillengass J, Hose K, Rème T, Rösen-Wolff A, Jauch A, Schnettler R, Ewerbeck V, Goldschmidt H, Klein B, Hose D. (2012) Clinical and prognostic role of annexin A2 in multiple myeloma. Blood 120:1087-1094.
  18. Neben K, Lokhorst HM, Jauch A, Bertsch U, Hielscher T, van der Holt B, Salwender H, Blau IW, Weisel K, Pfreundschuh M, Scheid C, Dührsen U, Lindemann W, Schmidt-Wolf IG, Peter N, Teschendorf C, Martin H, Haenel M, Derigs HG, Raab MS, Ho AD, van de Velde H, Hose D, Sonneveld P, Goldschmidt H (2012). Administration of bortezomib before and after autologous stem cell transplantation improves outcome in multiple myeloma patients with deletion 17p. Blood 119:940-948.
  19. Kassambara A, Hose D, Moreaux J, Walker BA, Protopopov A, Reme T, Pellestor F, Pantesco V, Jauch A, Morgan G, Goldschmidt H, Klein B (2012). Genes with a spike expression are clustered in chromosome (sub)bands and spike (sub)bands have a powerful prognostic value in patients with multiple myeloma. Haematologica 97:622-630.
  20. Broderick P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, Olver B, Ma YP, Dobbins SE, Walker BA, Davies FE, Gregory WA, Child JA, Ross FM, Jackson GH, Neben K, Jauch A, Hoffmann P, Mühleisen TW, Nöthen MM, Moebus S, Tomlinson IP, Goldschmidt H, Hemminki K, Morgan GJ, Houlston RS (2012). Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet 44:58-61.
  21. Bochtler T, Hegenbart U, Heiss C, Benner A, Moos M, Seckinger A, Pschowski-Zuck S, Kirn D, Neben K, Bartram CR, Ho AD, Goldschmidt H, Hose D, Jauch A, Schonland SO (2011). Hyperdiploidy is less frequent in AL amyloidosis compared with monoclonal gammopathy of undetermined significance and inversely associated with translocation t(11;14). Blood 117:3809-3815.
  22. Moreaux J, Klein B, Bataille R, Descamps G, Maiga S, Hose D, Goldschmidt H, Jauch A, Reme T, Jourdan M, Amiot M, Pellat-Deceunynck C (2011). A high-risk signature for patients with multiple myeloma established from human myeloma cell lines molecular classification. Haematologica 96:574-582.
  23. Hose D, Reme T, Moreaux J, Meissner T, Seckinger A, Benner A, Shaughnessy JD, Barlogie B, Zhou Y, Hillengass J, Bertsch U, Neben K, Mohler T, Rossi JF, Jauch A, Klein B, Goldschmidt H (2011). Proliferation is a central independent prognostic factor and target for personalized and risk adapted treatment in multiple myeloma. Haematologica 96:87-95.
  24. Stimpson KM, Song IY, Jauch A, Holtgreve-Grez H, Hayden KE, Bridger JM, Sullivan BA (2010). Telomere Disruption results in non-random formation of de novo dicentric human chromosomes some of which are stabilized by partial centromeric deletion. PLoS Genetics 2010 Aug 12;6(8). pii: e1001061. doi: 10.1371/journal.pgen.1001061.
  25. Broyl A, Hose D, Lokhorst H, de Knegt Y, Peeters J, Jauch A, Bertsch U, Buijs A, Stevens-Kroef M, Beverloo HB, Vellenga E, Zweegman S, Kersten MJ, van der Holt B, El Jarari L, Mulligan G, Goldschmidt H, van Duin M, Sonneveld P (2010). Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients. Blood 116:2543-2553.
  26. Neben K, Jauch A, Bertsch U, Heiss C, Hielscher T, Seckinger A, Mors T, Müller NZ, Hillengass J, Raab MS, Ho AD, Hose D, Goldschmidt H (2010). Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation. Haematologica 95:1150-1157.
  27. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Krämer A, Schäble J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Göhring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Rongxi Yang, Reinecke P, Kühlcke K, Schlegelberger B, Thrasher AJ., Hoelzer D, Seger R, von Kalle C, Grez M (2010). Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16:198-204.
  28. Tuduri S, Crabbé L, Conti C, Tourrière H, Holtgreve-Grez H, Jauch A, Pantesco V, De Vos J, Thomas A, Theillet C, Pommier Y, Tazi J, Coquelle A, Pasero P (2009). Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription. Nat Cell Biol 11:1315-24.
  29. Sprynski AC, Hose D, Caillot L, Réme T, Shaughnessy JD Jr, Barlogie B, Seckinger A, Moreaux J, Hundemer M, Jourdan M, Meissner T, Jauch A, Mahtouk K, Kassambara A, Bertsch U, Rossi JF, Goldschmidt H, Klein B (2009). The role of IGF-1 as a major growth factor for myeloma cell lines and the prognostic relevance of the expression of its receptor. Blood 113:4614-4626.
  30. Hose D, Reme T, Meissner T, Moreaux J, Seckinger A, Lewis J, Benes V, Benner A, Hundemer M, Hielscher T, Shaughnessy JD Jr, Barlogie B, Neben K, Kramer A, Hillengass J, Bertsch U, Jauch A, De Vos J, Rossi JF, Mohler T, Blake J, Zimmermann J, Klein B, Goldschmidt H (2009a). Inhibition of Aurora-kinases for tailored risk adapted treatment of multiple myeloma. Blood 113:4331-4340.
  31. Hose D, Moreaux J, Meissner T, Seckinger A, Goldschmidt H, Benner A, Mahtouk K, Hillengass J, Reme T, De Vos J, Hundemer M, Condomines M, Bertsch U, Rossi JF, Jauch A, Klein B, Mohler T (2009b). Induction of angiogenesis by normal and malignant plasma cells. Blood 114:128-43.
  32. Bochtler T, Hegenbart U, Cremer FW, Heiss C, Benner A, Hose D, Moos M, Bila J, Bartram CR, Ho AD, Goldschmidt H, Jauch A, Schonland SO (2008). Evaluation of the cytogenetic aberration pattern in amyloid light chain amyloidosis as compared to monoclonal gammopathy of undetermined significance reveals common pathways of karyotypic instability. Blood 111:4700-4705.
  33. Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J. (2007). Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci USA 104:2205-2210.
  34. Moreaux J, Cremer FW, Reme T, Raab M, Mahtouk K, Kaukel P, Pantesco V, DE Vos J, Jourdan E, Jauch A, Legouffe E, Moos M, Fiol G, Goldschmidt H, Rossi JF, Hose D, Klein B (2005). The level of TACI gene expression in myeloma cells is associated with a signature of microenvironment dependence versus a plasmablastic signature. Blood 106:1021-1030.
  35. Radujkovic A, Schad M, Topaly J, Veldwijk MR, Laufs S, Schultheis BS, Jauch A, Melo JV, Fruehauf S, Zeller WJ (2005). 19. Synergistic activity of imatinib and 17-AAG in imatinib-resistant CML cells overexpressing BCR-ABL-Inhibition of P-glycoprotein function by 17-AAG. Leukemia 19:1198-206.
  36. Schmittwolf C, Kirchhof N, Jauch A, Durr M, Harder F, Zenke M, Muller AM (2005). In vivo haematopoietic activity is induced in neurosphere cells by chromatin-modifying agents. EMBO J 24:554-566.
  37. Laufs S, Gentner B, Nagy KZ, Jauch A, Benner A, Naundorf S, Kuehlcke K, Schiedlmeier B, Ho AD, Zeller WJ, Fruehauf S (2003). Retroviral vector integration occurs into preferred genomic targets of human bone marrow repopulating cells. Blood 101:2191-2198.
  38. Tsukasaki K, Krebs J, Nagai K, Tomonaga M, Koeffler PH, Bartram CR, Jauch A (2001). Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma correlation with clinical course. Blood 97:3875-3881.
  39. Smogorzewska A, Karlseder J, Holtgreve-Grez H, Jauch A, de Lange T (2002). DNA Ligase IV-Dependent NHEJ of Deprotected Mammalian Telomeres in G1 and G2. Curr Biol 12:1635-1644.
  40. Janssen JWG, Vaandrager JW, Heuser T, Jauch A, Kluin PM, Geelen E, Bergsagel PL, Kuehl WM, Drexler HG, Otsuki T, Bartram CR, Schuuring E (2000). Simultaneous activation of a novel putative transforming gene, ocin, and cyclin D1 in a subset of multiple myelomas cell lines with t(11;14)(q13;q32). Blood 95:2691-2698.
  41. Taniwaki M, Matsuda F, Jauch A, Nishida K, Tagawa S, Sugiyama H, Misawa S, Abe T, Kashima K (1994). Detection of 14q32 translocations in B cell malignancies by in situ hybridization with yeast artifical chromosome clones containing the human IgH gene locus. Blood 83: 2962-2969.
  42. Jauch A, Cremer T, Stanyon R, Ishida T, Wienberg J (1992). Interchromosomal rearrangements during hominoid evolution (human, great apes and gibbons) reconstructed by chromosomal in situ suppression hybridization. Proc Natl Acad Sci USA 89:8611-8615.
Forschung in der Diagnostik
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