Béatrice Plougastel - Academia.edu (original) (raw)

Papers by Béatrice Plougastel

Le sarcome d'ewing est une tumeur maligne intraosseuse a petites cellules rondes de l'enf... more Le sarcome d'ewing est une tumeur maligne intraosseuse a petites cellules rondes de l'enfant et de l'adulte jeune. En 1983 une translocation chromosomique equilibree a ete mis en evidence dans la quasi totalite des caryotypes de sarcome d'ewing. En vue du clonage de cette translocation, une strategie de genetique inverse a ete developpee au laboratoire. Des sondes situees a proximite du remaniement ont ete a l'origine de marches sur le chromosome. La technique d'electrophorese en champs pulses associee a la technique d'hybridation in situ sur chromosomes metaphasiques et interphasiques a permis d'organiser les contigs resultants. L'extension d'un de ces contigs par marche sur le chromosome a conduit a l'isolement du point de cassure. Une cartographie fine d'une region du chromosome 22 chevauchant le point de cassure de la t(11 ;22) a ete realise. Elle a permis de definir une region de 7kb appelee ewsr1 ou sont regroupes les points de cassure de 20 tumeurs, d'isoler trois regions potentiellement riches en cpg encadrant la t(11 ;22) du sarcome d'ewing et d'entreprendre la recherche d'un gene code par cette region. La translocation t(11 ;22) conduit a la fusion des genes ews et fli-1 situes respectivement sur les chromosomes 22 et 11. Le gene ews code pour une proteine putative de 656 acides amines susceptible de se lier a l'arn. La translocation aboutit a la synthese d'une proteines chimeriques dans laquelle le domaine rna-bd de ews est remplace par le domaine dna-bd du facteur de transcription fli-1. L'etude de la structure genomique du gene ews a mis en evidence 17 exons repartis sur une region de 40kb et encadres par deux regions riches en doublets cpg. Le promoteur du gene ews situe au sein de l'ilot cpg proximal possede les caracteristiques d'un promoteur de gene ubiquitaire (houskeeping genes). Les sept premiers exons codant pour le domaine n-terminal de la proteine ews sont constamment conserves dans les transcrits chimeriques. Un gene localise sur le chromosome 11 de souris presentant 93% d'homologie en acides nucleiques et 98% en acides amines avec le gene ews a ete clone. Trois pseudogenes ont egalement ete mis en evidence apres amplification d'adn genomique de souris. La caracterisation du gene dropen 19 de drosophile a ete poursuivie. Outre une homologie importante entre les domaines rna-bd des proteines putatives ews et dropen 19, l'existence d'homologies supplementaires suggerent que ces deux proteines pourraient appartenir a une sous-famille de proteines susceptibles de se lier a l'arn

Cold Spring Harbor Symposia on Quantitative Biology, 1994

Current Topics in Microbiology and Immunology

The functions of natural killer (NK) cells are clearly regulated by major histocompatibility comp... more The functions of natural killer (NK) cells are clearly regulated by major histocompatibility complex (MHC) class I molecules on their cellular targets. In mice, this is due to the action of MHC-specific inhibitory receptors belonging to the Ly49 family oflectin-like molecules. The Ly49 receptors are encoded in the NK gene complex (NKC) that contains clusters of genes for other lectin-like receptors on NK cells and other hematopoietic cells. Interestingly, recent studies have shown that some of these lectin-like receptors, belonging to the Nkrpl family, can recognize other lectin-like molecules, termed Clr, also encoded in the NKC. These genetically linked loci for receptor-ligand pairs suggest a genetic strategy to preserve this interaction and show several other contrasts with Ly49-MHC interactions. In this review, we discuss these issues and summarize recent developments concerning this non-MHC-dependent regulation of NK cell function.

Cold Spring Harbor Symposia on Quantitative Biology, 1994

Immunity, 2015

Highlights d Control of lethal poxvirus infection requires NKG2A d NKG2A limits excessive activat... more Highlights d Control of lethal poxvirus infection requires NKG2A d NKG2A limits excessive activation and apoptosis within virus-specific CD8 + T cells d NKG2C and NKG2E are not expressed on the surface of mouse NK cells and CD8 + T cells d Qa-1 is preferentially expressed on B cells in ECTV-infected tissues

Nature Immunology, 2003

The natural killer (NK) gene complex (NKC) encodes orphan lectin-like NK cell receptors that may ... more The natural killer (NK) gene complex (NKC) encodes orphan lectin-like NK cell receptors that may explain uncharacterized NK cell specificities. Unlike other NKC-encoded receptors that recognize molecules with major histocompatibility complex (MHC) class I folds, here we show that mouse Nkrp1d and Nkrp1f bind specific C-type lectin-related (Clr) molecules. Nkrp1d mediated inhibition when recognizing Clrb, a molecule expressed in dendritic cells and macrophages. Nkrp1 (official gene name, Klrb1) and Clr are intertwined in a genetically conserved NKC region showing recombination suppression, reminiscent of plant self-incompatibility loci. Thus, these findings broaden the 'missing-self' hypothesis from solely involving MHC class I to including related NK cell receptors for lectin-like ligands, and reflect genetic strategies for biological self-recognition processes in other species.

Immunogenetics, 2008

Natural killer (NK) cells play critical roles in antiviral immunity. While the importance of effe... more Natural killer (NK) cells play critical roles in antiviral immunity. While the importance of effector mechanisms such as interferons has been demonstrated through knockout mice, specific mechanisms of how viruses are recognized and controlled by NK cells are less well defined. Previous genetic studies have mapped the resistance genes for murine cytomegalovirus (MCMV), herpes simplex virus-1 (HSV-1), and ectromelia virus to the NK gene complex on murine chromosome 6, a region containing the polymorphic Ly49 and Nkrp1 families. Genetic resistance to MCMV in C57BL/6 has been attributed to Ly49H, an activation receptor, through susceptibility of the recombinant inbred strain BXD-8 that lacks Ly49h (also known as Klra8) but derived about half of its genome from its DBA/2 progenitor. However, it remained possible that epigenetic effects could account for the MCMV phenotype in BXD-8 mice. Herein, we report the generation of a novel congenic murine strain, B6. BXD8-Klra8 Cmv1-del /Wum, on the C57BL/6 genetic background to evaluate the effect of deletion of a single NK activation receptor, Ly49H. Deletion of Ly49H rendered mice much more susceptible to MCMV infection. This increase in susceptibility did not appear to be a result of a difference in NK cell expansion or interferon-γ (IFN-γ) production between the C57BL/6 and the B6.BXD8 strains. On the other hand, the deletion of Ly49h did not otherwise affect NK cell maturation or Ly49D expression and had no effect on susceptibility to HSV-1 or ectromelia virus. In conclusion, Ly49h is necessary for genetic resistance to MCMV, but not HSV-1 or ectromelia virus.

L'invention concerne un acide nucleique comprenant tout ou partie de la sequence nucleique d&... more L'invention concerne un acide nucleique comprenant tout ou partie de la sequence nucleique d'un gene du chromosome 22 implique dans les translocations chromosomiques recurrentes associees au developpement de tumeurs cancereuses. L'invention a aussi pour objet des acides nucleiques hybrides correspondant aux produits de fusion resultant des translocations chromosomiques dans lesquelles est engage ledit gene du chromosome 22, et plus particulierement les translocations chromosomiques recurrentes t(11;22), t(21;22) associees au sarcome d'Ewing, et t(12;22) associee au melanome malin des parties molles.

The EMBO Journal, 1993

Mandel evidenced contained the N-terminal domain of EWS and the Ets domain of FLI-1 or ERG sugges... more Mandel evidenced contained the N-terminal domain of EWS and the Ets domain of FLI-1 or ERG suggesting that oncogenic conversion is achieved by the linking of the two domains with no marked constraint on the connecting peptide.

American journal of human genetics, 1993

We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and tran... more We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.

Current Protocols in Immunology, 2014

This unit describes the isolation of natural killer (NK) cells from mouse spleen. The basic proto... more This unit describes the isolation of natural killer (NK) cells from mouse spleen. The basic protocol describes a method for preparing a highly purified NK cell population from mouse spleen by depletion of contaminating cells with selected monoclonal antibodies (MAbs) and magnetic separation. There are several advantages to this negative selection process. One of these is that the NK cells are not coated with antibody and, therefore, are not at risk of functional perturbation by antibody cross-linking. Additionally, negative selection provides a way to isolate diverse subpopulations of NK cells without selectively purifying a specific subpopulation. Following enrichment, NK cell purity can be assessed by cell surface phenotype using flow cytometry. Curr. Protoc. Immunol.. 105:3.22.1-3.22.9. © 2014 by John Wiley & Sons, Inc.

The EMBO Journal, 1997

Proteasomes are proteolytic complexes involved in nonlysosomal degradation which are localized in... more Proteasomes are proteolytic complexes involved in nonlysosomal degradation which are localized in both the cytoplasm and the nucleus. The dynamics of proteasomes in living cells is unclear, as is their targeting to proteins destined for degradation. To investigate the intracellular distribution and mobility of proteasomes in vivo, we generated a fusion protein of the proteasome subunit LMP2 and the green fluorescent protein (GFP). The LMP2-GFP chimera was quantitatively incorporated into catalytically active proteasomes. The GFPtagged proteasomes were located within both the cytoplasm and the nucleus. Within these two compartments, proteasomes diffused rapidly, and bleaching experiments demonstrated that proteasomes were transported slowly and unidirectionally from the cytoplasm into the nucleus. During mitosis, when the nuclear envelope has disintegrated, proteasomes diffused rapidly throughout the dividing cell without encountering a selective barrier. Immediately after cell division, the restored nuclear envelope formed a new barrier for the diffusing proteasomes. Thus, proteasomes can be transported unidirectionally over the nuclear membrane, but can also enter the nucleus upon reassembly during cell division. Since proteasomes diffuse rapidly in the cytoplasm and nucleus, they may perform quality control by continuous collision with intracellular proteins, and degrading those proteins that are properly tagged or misfolded.

The Journal of Immunology, 2002

Genomics, 1993

The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(1... more The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that of the previously described cDNA. The first 7 exons encode the N-terminal domain of EWS, which consists of a repeated degenerated polypeptide of 7 to 12 residues rich in tyrosine, serine, threonine, glycine, and glutamine. Exons 11, 12, and 13 encode the putative RNA binding domain. The three glycine-and arginine-rich motifs of the gene are mainly encoded by exons 8-9, 14, and 16. The DNA sequence in the 5' region of the gene has features of a CpG-rich island and lacks canonical promoter elements, such as TATA and CCAAT consensus sequences. Positions of the chromosome 22 breakpoints were determined for 19 Ewing tumors. They were localized in introns 7 or 8 in 18 cases and in intron 10 in 1 case.

Genes, Chromosomes and Cancer, 1992

Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are rel... more Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are related tumors, possibly of neural crest origin, which are cytogenetically characterized by the specific translocation t(11;22)(q24;q12). The cos5 locus, previously identified in the vicinity of the chromosome 22 breakpoint of this translocation, was shown by in situ hybridization on interphase nuclei to lie between VIIIF2 and LIF, two loci located on either side of the breakpoint and at a distance of less than 2,000 kb. The progressive expansion of this locus by chromosome walking led to the construction of a 300 kb contig, which finally crossed the breakpoint. The subsequent cloning of the two translocation junction fragments of a PN, followed by the molecular characterization of the translocation breakpoints of 20 ES and PN, showed that most chromosome 22 breakpoints are clustered within a small, 2 kb region. In contrast, the chromosome 11 breakpoints are scattered over a region of at least 40 kb. The translocation leads to the synthesis of chimeric transcript that links sequences from chromosomes 22 and 11. Finally, no evidence was found of any specific difference in the position of ES and PN translocation breakpoints.

Cancer Genetics and Cytogenetics, 1992

Le sarcome d'ewing est une tumeur maligne intraosseuse a petites cellules rondes de l'enf... more Le sarcome d'ewing est une tumeur maligne intraosseuse a petites cellules rondes de l'enfant et de l'adulte jeune. En 1983 une translocation chromosomique equilibree a ete mis en evidence dans la quasi totalite des caryotypes de sarcome d'ewing. En vue du clonage de cette translocation, une strategie de genetique inverse a ete developpee au laboratoire. Des sondes situees a proximite du remaniement ont ete a l'origine de marches sur le chromosome. La technique d'electrophorese en champs pulses associee a la technique d'hybridation in situ sur chromosomes metaphasiques et interphasiques a permis d'organiser les contigs resultants. L'extension d'un de ces contigs par marche sur le chromosome a conduit a l'isolement du point de cassure. Une cartographie fine d'une region du chromosome 22 chevauchant le point de cassure de la t(11 ;22) a ete realise. Elle a permis de definir une region de 7kb appelee ewsr1 ou sont regroupes les points de cassure de 20 tumeurs, d'isoler trois regions potentiellement riches en cpg encadrant la t(11 ;22) du sarcome d'ewing et d'entreprendre la recherche d'un gene code par cette region. La translocation t(11 ;22) conduit a la fusion des genes ews et fli-1 situes respectivement sur les chromosomes 22 et 11. Le gene ews code pour une proteine putative de 656 acides amines susceptible de se lier a l'arn. La translocation aboutit a la synthese d'une proteines chimeriques dans laquelle le domaine rna-bd de ews est remplace par le domaine dna-bd du facteur de transcription fli-1. L'etude de la structure genomique du gene ews a mis en evidence 17 exons repartis sur une region de 40kb et encadres par deux regions riches en doublets cpg. Le promoteur du gene ews situe au sein de l'ilot cpg proximal possede les caracteristiques d'un promoteur de gene ubiquitaire (houskeeping genes). Les sept premiers exons codant pour le domaine n-terminal de la proteine ews sont constamment conserves dans les transcrits chimeriques. Un gene localise sur le chromosome 11 de souris presentant 93% d'homologie en acides nucleiques et 98% en acides amines avec le gene ews a ete clone. Trois pseudogenes ont egalement ete mis en evidence apres amplification d'adn genomique de souris. La caracterisation du gene dropen 19 de drosophile a ete poursuivie. Outre une homologie importante entre les domaines rna-bd des proteines putatives ews et dropen 19, l'existence d'homologies supplementaires suggerent que ces deux proteines pourraient appartenir a une sous-famille de proteines susceptibles de se lier a l'arn

Cold Spring Harbor Symposia on Quantitative Biology, 1994

Current Topics in Microbiology and Immunology

The functions of natural killer (NK) cells are clearly regulated by major histocompatibility comp... more The functions of natural killer (NK) cells are clearly regulated by major histocompatibility complex (MHC) class I molecules on their cellular targets. In mice, this is due to the action of MHC-specific inhibitory receptors belonging to the Ly49 family oflectin-like molecules. The Ly49 receptors are encoded in the NK gene complex (NKC) that contains clusters of genes for other lectin-like receptors on NK cells and other hematopoietic cells. Interestingly, recent studies have shown that some of these lectin-like receptors, belonging to the Nkrpl family, can recognize other lectin-like molecules, termed Clr, also encoded in the NKC. These genetically linked loci for receptor-ligand pairs suggest a genetic strategy to preserve this interaction and show several other contrasts with Ly49-MHC interactions. In this review, we discuss these issues and summarize recent developments concerning this non-MHC-dependent regulation of NK cell function.

Cold Spring Harbor Symposia on Quantitative Biology, 1994

Immunity, 2015

Highlights d Control of lethal poxvirus infection requires NKG2A d NKG2A limits excessive activat... more Highlights d Control of lethal poxvirus infection requires NKG2A d NKG2A limits excessive activation and apoptosis within virus-specific CD8 + T cells d NKG2C and NKG2E are not expressed on the surface of mouse NK cells and CD8 + T cells d Qa-1 is preferentially expressed on B cells in ECTV-infected tissues

Nature Immunology, 2003

The natural killer (NK) gene complex (NKC) encodes orphan lectin-like NK cell receptors that may ... more The natural killer (NK) gene complex (NKC) encodes orphan lectin-like NK cell receptors that may explain uncharacterized NK cell specificities. Unlike other NKC-encoded receptors that recognize molecules with major histocompatibility complex (MHC) class I folds, here we show that mouse Nkrp1d and Nkrp1f bind specific C-type lectin-related (Clr) molecules. Nkrp1d mediated inhibition when recognizing Clrb, a molecule expressed in dendritic cells and macrophages. Nkrp1 (official gene name, Klrb1) and Clr are intertwined in a genetically conserved NKC region showing recombination suppression, reminiscent of plant self-incompatibility loci. Thus, these findings broaden the 'missing-self' hypothesis from solely involving MHC class I to including related NK cell receptors for lectin-like ligands, and reflect genetic strategies for biological self-recognition processes in other species.

Immunogenetics, 2008

Natural killer (NK) cells play critical roles in antiviral immunity. While the importance of effe... more Natural killer (NK) cells play critical roles in antiviral immunity. While the importance of effector mechanisms such as interferons has been demonstrated through knockout mice, specific mechanisms of how viruses are recognized and controlled by NK cells are less well defined. Previous genetic studies have mapped the resistance genes for murine cytomegalovirus (MCMV), herpes simplex virus-1 (HSV-1), and ectromelia virus to the NK gene complex on murine chromosome 6, a region containing the polymorphic Ly49 and Nkrp1 families. Genetic resistance to MCMV in C57BL/6 has been attributed to Ly49H, an activation receptor, through susceptibility of the recombinant inbred strain BXD-8 that lacks Ly49h (also known as Klra8) but derived about half of its genome from its DBA/2 progenitor. However, it remained possible that epigenetic effects could account for the MCMV phenotype in BXD-8 mice. Herein, we report the generation of a novel congenic murine strain, B6. BXD8-Klra8 Cmv1-del /Wum, on the C57BL/6 genetic background to evaluate the effect of deletion of a single NK activation receptor, Ly49H. Deletion of Ly49H rendered mice much more susceptible to MCMV infection. This increase in susceptibility did not appear to be a result of a difference in NK cell expansion or interferon-γ (IFN-γ) production between the C57BL/6 and the B6.BXD8 strains. On the other hand, the deletion of Ly49h did not otherwise affect NK cell maturation or Ly49D expression and had no effect on susceptibility to HSV-1 or ectromelia virus. In conclusion, Ly49h is necessary for genetic resistance to MCMV, but not HSV-1 or ectromelia virus.

L'invention concerne un acide nucleique comprenant tout ou partie de la sequence nucleique d&... more L'invention concerne un acide nucleique comprenant tout ou partie de la sequence nucleique d'un gene du chromosome 22 implique dans les translocations chromosomiques recurrentes associees au developpement de tumeurs cancereuses. L'invention a aussi pour objet des acides nucleiques hybrides correspondant aux produits de fusion resultant des translocations chromosomiques dans lesquelles est engage ledit gene du chromosome 22, et plus particulierement les translocations chromosomiques recurrentes t(11;22), t(21;22) associees au sarcome d'Ewing, et t(12;22) associee au melanome malin des parties molles.

The EMBO Journal, 1993

Mandel evidenced contained the N-terminal domain of EWS and the Ets domain of FLI-1 or ERG sugges... more Mandel evidenced contained the N-terminal domain of EWS and the Ets domain of FLI-1 or ERG suggesting that oncogenic conversion is achieved by the linking of the two domains with no marked constraint on the connecting peptide.

American journal of human genetics, 1993

We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and tran... more We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.

Current Protocols in Immunology, 2014

This unit describes the isolation of natural killer (NK) cells from mouse spleen. The basic proto... more This unit describes the isolation of natural killer (NK) cells from mouse spleen. The basic protocol describes a method for preparing a highly purified NK cell population from mouse spleen by depletion of contaminating cells with selected monoclonal antibodies (MAbs) and magnetic separation. There are several advantages to this negative selection process. One of these is that the NK cells are not coated with antibody and, therefore, are not at risk of functional perturbation by antibody cross-linking. Additionally, negative selection provides a way to isolate diverse subpopulations of NK cells without selectively purifying a specific subpopulation. Following enrichment, NK cell purity can be assessed by cell surface phenotype using flow cytometry. Curr. Protoc. Immunol.. 105:3.22.1-3.22.9. © 2014 by John Wiley & Sons, Inc.

The EMBO Journal, 1997

Proteasomes are proteolytic complexes involved in nonlysosomal degradation which are localized in... more Proteasomes are proteolytic complexes involved in nonlysosomal degradation which are localized in both the cytoplasm and the nucleus. The dynamics of proteasomes in living cells is unclear, as is their targeting to proteins destined for degradation. To investigate the intracellular distribution and mobility of proteasomes in vivo, we generated a fusion protein of the proteasome subunit LMP2 and the green fluorescent protein (GFP). The LMP2-GFP chimera was quantitatively incorporated into catalytically active proteasomes. The GFPtagged proteasomes were located within both the cytoplasm and the nucleus. Within these two compartments, proteasomes diffused rapidly, and bleaching experiments demonstrated that proteasomes were transported slowly and unidirectionally from the cytoplasm into the nucleus. During mitosis, when the nuclear envelope has disintegrated, proteasomes diffused rapidly throughout the dividing cell without encountering a selective barrier. Immediately after cell division, the restored nuclear envelope formed a new barrier for the diffusing proteasomes. Thus, proteasomes can be transported unidirectionally over the nuclear membrane, but can also enter the nucleus upon reassembly during cell division. Since proteasomes diffuse rapidly in the cytoplasm and nucleus, they may perform quality control by continuous collision with intracellular proteins, and degrading those proteins that are properly tagged or misfolded.

The Journal of Immunology, 2002

Genomics, 1993

The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(1... more The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that of the previously described cDNA. The first 7 exons encode the N-terminal domain of EWS, which consists of a repeated degenerated polypeptide of 7 to 12 residues rich in tyrosine, serine, threonine, glycine, and glutamine. Exons 11, 12, and 13 encode the putative RNA binding domain. The three glycine-and arginine-rich motifs of the gene are mainly encoded by exons 8-9, 14, and 16. The DNA sequence in the 5' region of the gene has features of a CpG-rich island and lacks canonical promoter elements, such as TATA and CCAAT consensus sequences. Positions of the chromosome 22 breakpoints were determined for 19 Ewing tumors. They were localized in introns 7 or 8 in 18 cases and in intron 10 in 1 case.

Genes, Chromosomes and Cancer, 1992

Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are rel... more Ewing's sarcoma (ES) and peripheral neuroepithelioma (PN) are related tumors, possibly of neural crest origin, which are cytogenetically characterized by the specific translocation t(11;22)(q24;q12). The cos5 locus, previously identified in the vicinity of the chromosome 22 breakpoint of this translocation, was shown by in situ hybridization on interphase nuclei to lie between VIIIF2 and LIF, two loci located on either side of the breakpoint and at a distance of less than 2,000 kb. The progressive expansion of this locus by chromosome walking led to the construction of a 300 kb contig, which finally crossed the breakpoint. The subsequent cloning of the two translocation junction fragments of a PN, followed by the molecular characterization of the translocation breakpoints of 20 ES and PN, showed that most chromosome 22 breakpoints are clustered within a small, 2 kb region. In contrast, the chromosome 11 breakpoints are scattered over a region of at least 40 kb. The translocation leads to the synthesis of chimeric transcript that links sequences from chromosomes 22 and 11. Finally, no evidence was found of any specific difference in the position of ES and PN translocation breakpoints.

Cancer Genetics and Cytogenetics, 1992