Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight 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 Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Databa&àse/Text-Book. TABLE OF CONTENTS Volume 10, Number 3, Jul-Sep 2006 Previous Issue / Next Issue Genes HMGA2 (high mobility group AT-hook 2) (12q15) - updated . Karin Brober. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 290-305. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/HMGICID82.html JJAZ1 (joined to JAZF1) (17q11.2). Hildegard Kehrer-Sawatzki. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 306-310. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JJAZ1ID41039ch17q11.html MYST3 (MYST histone acetyltransferase (monocytic leukemia) 3 (8p11). Jean Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 311-316. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MYST3ID25ch8p11.html PLCB1 (phospholipase C, beta 1 (phosphoinositide-specific)) (20p12.3). Matilde Y. Follo, Vincenza Rita Lo Vasco, Giovanni Martinelli, Giandomenico Palka, Lucio Cocco. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 317-323. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PLCB1ID41742ch20p12.html PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)) (2q31-33). Enric Domingo, Simo Schwartz Jr. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 324-328. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PMS1ID345ch2q31.html PKD1 (Protein Kinase D1) (14q11). Cheng Du, KC Balaji. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 329-335. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2006; 3 I URL : http://AtlasGeneticsOncology.org/Genes/PRKCMID41860ch14q11.html THBS2 (thrombospondin-2) (6q27). Elizabeth M. Perruccio, David . Roberts. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 336-350. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/THBS2ID42549ch6q27.html BAALC (brain and acute leukemia, cytoplasmic) (8q22.3). Jean Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 351-355. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/BAALCID739ch8q22.html MMP9 (matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)) (20q11.2-q13.1). Deepak Pralhad Patil, Gopal Chandra Kundu. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 356-362. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MMP9ID41408ch20q11.html NF1 (neurofibromin 1) (17q11.2) - updated. Katharina Wimmer. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 363-369. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NF1ID134.html PSAP (Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)) (10q22.1). Shahriar Koochekpour. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 370-384. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PSAPID42980ch10q22.html RCHY1 (ring finger and CHY zinc finger domain containing 1) (4q21.1). Wenrui Duan, Miguel A. Villalona-Calero. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 385-390. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/RCHY1ID43012ch04q21.html Leukaemias Follicular lymphoma (FL) - updated. Antonio Cuneo, Antonella Russo Rossi and Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 391-394. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/FollLymphomID2075.html Mucosa-associated lymphoid tissue (MALT) lymphoma. Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 395-401. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/MALTlymphID2095.html Marginal Zone B-cell lymphoma - updated. Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2006; 3 II Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 402-409. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/MarginalZoneBID2078.html Acute promyelocytic leukemia (APL); M3/M3v acute myeloid leukemia (AML M3/M3v). Claudia Schoch. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 410-413. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/M3ANLLID1240.html t(10;11)(p11.2;q23) - updated. Cristina Morerio, Claudio Panarello. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 414-416. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1011ID1178.html t(5;14)(q33;q32) PDGFRB/KIAA1509. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 417-418. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0514q33q32ID1379.html t(5;15)(q33;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 419-421. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0515q33q22ID1326.html t(1;21)(p36;q22) - updated. Marian Stevens-Kroef. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 422-426. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0121ID1186.html t(3;16)(q27;p13). Jean Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 427-428. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0316q27p13ID2089.html t(4;16)(q26;p13). Jean Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 429-430. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0416q26p13ID1358.html t(11;20)(q23;q11). JF Fu, LY Shih. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 431-433. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1120q23q11ID1415.html Solid Tumours Liver adenoma. Jessica Zucman-Rossi. Atlas Genet Cytogenet Oncol Haematol 2006; 3 III Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 434-437. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/LiverAdenomID5420.html Cancer Prone Diseases Birt-Hogg-Dubé Syndrome (BHD). Benedetta Toschi, Maurizio Genuardi. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 438-443. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/BirtHoggDubeID10091.html Neurofibromatosis type 1 (NF1) - updated. Katharina Wimmer. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 444-447. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/NF1ID10006.html Familial liver adenomatosis. Jessica Zucman-Rossi. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 448-450. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/FamLiverAdenomID10130.html Deep Insights Ethical issues in cancer genetics. Robert Roger Lebel. Atlas Genet Cytogenet Oncol Haematol 2006; 10 (3): 451-459. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/EthicCancerGenetID20054.html Case Reports Educational Items © Atlas of Genetics and Cytogenetics in Oncology and Haematology 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 Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2006; 3 IV Atlas of Genetics and Cytogenetics in Oncology and Haematology HMGA2 (high mobility group AT-hook 2) Identity Other HMGIC (High mobility group protein isoform I-C) names Hugo HMGA2 Location 12q15 telomeric to CDK4, centromeric to MDM2 DNA/RNA Description 5 exons, spans approximately 160 kb; a sixth alternative terminal exon within intron 3 has been described Transcription RNA: 4.1 kb. Transcription initiated from two different promoter regions. A polymorphic dinucleotide repeat upstream of the ATG start codon strongly regulates HMGA2 expression. Moreover, HMGA2 is controlled by negatively acting regulatory elements within the 3¹UTR Protein Description 109 amino acids; three DNA binding domains (AT hooks) linked to the carboxy-terminal acidic domain that does not activate transcription Expression fetal tissues: expression in various tissues, prominent in kidney, liver and uterus; adult tissues: no expression except in lung and kidney; tumors: expression in benign mesenchymal tumor tissues correlated to 12q15 rearrangements; expressed in malignant tumours (e.g., in breast Atlas Genet Cytogenet Oncol Haematol 2006; 3 -290- tumours, pancreas tumours, lung tumours, nerve system tumours, oral cavity tumours). Localisation nuclear Function architectural factor, non histone, preferential binding to AT rich sequences in the minor groove of DNA helix; the precise function remains to be elucidated; probable role in regulation of cell proliferation Homology member of the HMGI protein family Mutations Germinal deletion of HMGIC in mutant mice or transgenic ' knock out' mice for the first two exons of HMGIC have the "pigmy" phenotype: low birth weight, craniofacial defects, adipocyte hypoplasia adult body weight about 40% of normal; mice with a partial or complete deficiency of HMGA2 resisted diet-induced obesity implicating a role of the gene in fat cell proliferation; truncations of mouse Hmga2 in transgenic mice result in somatic overgrowth and, in particular, increased abundance of fat and lipomas; overexpression of the HMGA2 gene in transgenic mice leads to the onset of pituary adenomas secreting prolactic and growth hormone; HMGA2-null mice had very few spermatids and complete absence of spermatozoa; 8-year-old boy had a de novo pericentric inversion of chromosome 12, with breakpoints at p11.22 and q14.3. The phenotype included extreme