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Atlas Journal 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 Database/Text-Book. TABLE OF CONTENTS Volume 5, Number 2, Apr-Jun 2001 Previous Issue / Next Issue Genes COL1A1 (collagen, type I, alpha 1) (17q21.31-q22). Marie-Pierre Simon, Georges Maire, Florence Pedeutour. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 169-177. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/COL1A1ID186.html NF2 (neurofibromatosis type 2) (22q12.1-12.2) - updated. James F Gusella. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 178-184. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NF2117.html PDGFB (22q12.3-q13.1). Marie-Pierre Simon, Georges Maire, Florence Pedeutour. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 185-194. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PDGFBID155.html XPA (9q22.3-9q22.3). Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 195-204. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2001; 2 I URL : http://AtlasGeneticsOncology.org/Genes/XPAID104.html ERCC-3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3) (2q21). Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 205-214. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/XPBID296.html XPC (3p25.1). Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 215-224. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/XPCID122.html ERCC2 (Excision repair cross-complementing rodent repair deficiency, complementation group 2) - (19q13.2). Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 225-240. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/XPDID297.html POLH (polymerase (DNA direct), eta) (6p21.1). Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 241-248. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/XPVID303.html FBP17 (Formin Binding Protein 17) (9q34). Uta Fuchs, Arndt Borkhardt. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 249-252. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/FBP17ID353.html Ghrelin/MTLRP (3p26-p25). Catherine Tomasetto. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 253-257. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/GhrelinID327.html MAD2L1 (mitotic arrest deficient 2, yeast, human homolog like-1) (4q27). Atlas Genet Cytogenet Oncol Haematol 2001; 2 II Elizabeth M. Petty, Kenute Myrie. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 258-267. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MAD2L1ID304.html TFF3 (21q22.3). Catherine Tomasetto. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 268-273. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TFF3ID265.html WRN (8p12). Mounira Amor-Guéret. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 274-279. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/WRNID284.html Leukaemias Burkitt's lymphoma (BL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 281-284. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/BurkittID2077.html del(13q) in multiple myeloma. Franck Viguié. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 285-287. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del13qMMyeloID2094.html Follicular lymphoma (FL). Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 288-291. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/FollLymphomID2075.html t(5;11)(q31;q23). Stig E Bojesen. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 292-294. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2001; 2 III URL : http://AtlasGeneticsOncology.org/Anomalies/t0511ID1192.html Classification of T-Cell disorders. Vasantha Brito-Babapulle, Estella Matutes, Daniel Catovsky. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 295-300. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/TcellClassifID2079.html Solid Tumours Testis: Germ cell tumors - updated. Leendert H.J. Looijenga. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 301-320. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/malegermID5005.html Cancer Prone Diseases Bruton's agammaglobulinemia. Niels B Atkin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 321-323. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/BrutonAgammaID10023.html Familial nervous system tumour syndromes. Anne Marie Capodano. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 324-326. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/FamilNervousCanID10067.html Multiple Endocrine Neoplasia type 2 (MEN2). Sophie Giraud. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 327-331. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/MEN2ID10009.html Von Hippel-Lindau - updated. Stéphane Richard. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 332-342. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/VHLKpr10010.html Atlas Genet Cytogenet Oncol Haematol 2001; 2 IV Neurofibromatosis type 2 (NF2) - updated. James F Gusella. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 343-346. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/NF2Kpr10007.html Deep Insights Nucleotide excision repair. Leon H.F. Mullenders, Anne Stary, Alain Sarasin. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 347-352. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/ExcisRepairID20014.html Case Reports Educational Items Hardy-Weinberg model. Robert Kalmes, Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2001; 5 (2): 353-362. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/HardyEng.html © 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 2001; 2 V Atlas of Genetics and Cytogenetics in Oncology and Haematology COL1A1 (collagen, type I, alpha 1) Identity Hugo COL1A1 Location 17q21.31-q22 Telomeric to MEOX1 (mesenchyme homeo box 1), centromeric to MVWF (Modifier of von Willebrand factor) COL1A1 (17q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact [email protected] DNA/RNA Description The COL1A1 gene is 18 kb in size and is composed of 52 exons. Exons 6 to 49 encode the alpha helical domain. Most of these exons were 45 bp, 54 bp or multiple of 45 bp or 54 bp Transcription Two RNA of 5,8 kb and 4,8 kb differing by their Ô3 terminus non coding sequence and giving rise to a single 140 kDa protein Protein Atlas Genet Cytogenet Oncol Haematol 2001; 2 -169- Description 1464 amino acids. The a1 (I) chains of the type I collagen are synthesised as procollagen molecules containing amino and carboxy- terminal propeptides, wich are removed by site-specific endopeptidase. The central triple helical domain is formed by 338 repeats of a Gly-X-Y triplet where X and Y are often a proline. Expression Type I collagen is the most abundant protein in vertebrates and a constituent of the extra cellular matrix in connective tissue of bone, skin, tendon, ligament and dentine. It is mostly produced and secreted by fibroblasts and osteoblasts. Localisation Extra-cellular matrix Function Two pro a1 (I) chain associate in trimers with one pro a2 (I) chain to form the type I collagen fibrils after proteolysis. Homology Member of the collagen family. Implicated in Entity Dermatofibrosarcoma Protuberans (DP), also called Darier Ferrand tumour or Darier-Hoffmann tumour. Giant cell fibrosarcoma (GCF) (juvenile form of DP). Bednar tumour (pigmented variant of DP) Disease Infiltrative skin tumours of intermediate malignancy Prognosis The prognosis is usually favourable. These tumours are locally aggressive and highly recurrent, but metastases or tumour-related deaths are extremely rare. Cytogenetics Dermatofibrosarcoma Protuberans, Giant Cell fibrosarcoma and Bednar tumours present specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13.1) ( Fig A) or, more often, supernumerary ring chromosomes derived from t(17;22) (B). As shown by FISH analysis, the ring chromosomes contain chromosome 22 centromere and low-level amplification of 22cen-q13.1 and 17q22-qter sequences. To note, in most cases, the derivative chromosome 17 is not present. In contrast, several copies of the derivative chromosome 22 are generally observed.in addition to two apparently normal chromosomes 17 Atlas Genet Cytogenet Oncol Haematol 2001; 2 -170- Hybrid/Mutated Both rings and der(22) translocated chromosomes present a same molecular Gene rearrangement that fuses the collagen type I alpha 1(COL1A1) and the platelet- derived growth factor B chain (PDGFB) genes (C). In all DP and GCF cases studied, the t(17;22)translocation results in chimerical COL1A1/PDGFB mRNA production, in which the PDGFB exon 1 is deleted and replaced by a variable segment of COL1A1 mRNA sequence.
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