Journal ArticleDOI
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
Olivier Delattre,Jessica Zucman,Béatrice Plougastel,Chantal Desmaze,Thomas Melot,Martine Peter,Heinrich Kovar,Isabelle Joubert,Pieter J. de Jong,Guy A. Rouleau,Alain Aurias,Gilles Thomas +11 more
TLDR
Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation.Abstract:
Ewing's sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent and specific t(11;22) (q24;q12) chromosome translocation, the breakpoints of which have recently been cloned. Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation. Here we use these fragments to screen human complementary DNA libraries to show that the translocation alters the open reading frame of an expressed gene on chromosome 22 gene by substituting a sequence encoding a putative RNA-binding domain for that of the DNA-binding domain of the human homologue of murine Fli-1.read more
Citations
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Pathology and genetics of tumors of soft tissue and bone
TL;DR: This list includes tumours of undefined neoplastic nature, which are of uncertain differentiation Bone Tumours, Ewing sarcoma/Primitive neuroedtodermal tumour, Myogenic, lipogenic, neural and epithelial tumours, and others.
Journal ArticleDOI
Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment.
Garrett M. Brodeur,J Pritchard,Frank Berthold,N L Carlsen,Victoria Castel,R P Castelberry,B. De Bernardi,Audrey E. Evans,Favrot M,F Hedborg +9 more
TL;DR: The International Neuroblastoma Staging System (INSS) as mentioned in this paper was proposed to establish an internationally accepted staging system for neuroblastoma, as well as consistent criteria for confirming the diagnosis and determining response to therapy.
Journal ArticleDOI
Conserved structures and diversity of functions of RNA-binding proteins.
TL;DR: The major RNA-binding motifs are described and examples of how they may function are given.
Journal ArticleDOI
Chromosomal translocations in human cancer.
TL;DR: Fusion proteins formed after chromosomal translocations are common in a range of tumour types; these are unique tumour antigens and are therefore potential targets for therapy design.
Journal ArticleDOI
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more
TL;DR: The deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.
References
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Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
TL;DR: By analyzing the effects of single base substitutions around the ATG initiator codon in a cloned preproinsulin gene, ACCATGG is identified as the optimal sequence for initiation by eukaryotic ribosomes.
Journal ArticleDOI
Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins
Pamela J. Mitchell,Robert Tjian +1 more
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RNA recognition: towards identifying determinants of specificity.
TL;DR: Structural analyses suggest that all RRM proteins share a common fold and a similar protein-RNA interface, and that non-conserved residues contribute additional contacts for sequence-specific RNA recognition.
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TL;DR: An overview of the structural characteristics of these proteins is provided and speculation on how the modular structure of RNP-CS-type RNA-binding proteins may facilitate their participation in pathways that regulate development at the post-transcriptional level is speculated.
Journal ArticleDOI
Chromosomes in Ewing's sarcoma. I. An evaluation of 85 cases and remarkable consistency of t(11;22)(q24;q12)
C. Turc-Carel,Alain Aurias,Francine Mugneret,Sarab Lizard,Isabelle Sidaner,Christian Volk,Jean Paul Thiery,Sylviane Olschwang,Irène Philip,Marie Pierre Berger,Thierry Philip,Gilbert M. Lenoir,André Mazabraud +12 more
TL;DR: The standard t(11;22)(q24;q12) proved to be a remarkably consistent event, present in 83% of the cases, and the breakpoint on chromosome 22q12 appears to be the most consistently observed event.