bluuebunny/crossref_metadata_2025_split huggingface dataset:
PRAD1/lCyclin D1 proto‐oncogene: Genomic organization, 5′ dna sequence, and sequence of a tumor‐specific rearrangement breakpoint
Authors: Motokura Toru , Arnold Andrew 
Published: February 2007

AbstractPRAD1 (previously D11S287) is a putative proto‐oncogene at 11q13, activated by overexpression through gene rearrangement or gene amplification in several types of human tumors including parathyroid adenomas, centrocytic lymphomas and other B‐cell tumors with t(11;14), and breast cancers. PRAD1 (also CCND1) encodes cyclin D1, which may regulate the G1‐S phase transition in the cell cycle. Here, we report the cloning and characterization of the chromosomal PRAD1/cyclin D1 gene and the sequence of its promoter region. The gene spans about 15 kb and has 5 exons; its promoter region has Sp 1 binding sites and no obvious TATA box, characteristics of housekeeping genes and growth‐regulating genes. Furthermore, an E2F binding motif present close to the major transcription start site may be involved in cell cycle‐dependent expression of this gene. We also report the sequence of DNAs spanning joining regions of a reciprocal parathyroid hormone/PRAD1 gene rearrangement in a parathyroid adenoma. Comparison with normal sequences suggests that the rearrangement was not a simple break‐and‐ligate event, but rather involved multiple steps, including two microdeletions and a microinversion. Very short sequences conserved near the breakpoints and symmetrical elements in the eventually inverted DNA segment might have played a role in this illegitimate complex recombination, which may have similarities with a constitutional translocation in Duchenne muscular dystrophy. © 1993 Wiley‐Liss, Inc.
Consistent chromosomal anomalies in keratinocyte cell lines derived from untreated malignant lesions of the oral cavity
Authors: Patel Vyomesh , Yeudall W. Andrew , Gardner Anne , Mutlu Serdar , Scully Crispian , Prime Stephen S. 
Published: February 2007

AbstractCytogenetic analysis has been carried out on 8 early passage cell lines derived from 8 untreated human oral squamous cell carcinomas. Clonal aberrations were detected in the karyotypes of each cell line. A high frequency of breakpoints were noted on chromosomes 1, 7, 8, 9, 11, and X. An isochromosome 8 was present in 6 out of 8 cell lines; isochromosome 9 (3 cell lines) and isochromosome 11 (1 cell line) were also found. In 4 out of 8 cell lines the X chromosome harboured breakpoints, a novel finding in oral squamous cell carcinomas. Breakpoints were common on chromosome 1, with 1p12–p13 most frequently involved. Tandem duplication of 11q13–q23, which contains a number of growth regulatory genes, was also noted in 2 cases. We correlate the sites of proto‐oncogenes and other growth control genes with chromosomal breakpoints and suggest that several of these may play a role in the pathogenesis of oral cancer. © 1993 Wiley‐Liss, Inc.
Use of fluorescence in situ hybridization for retrospective detection of aneuploidy in multiple myeloma
Authors: Lee Wonbae , Han Kyungja , Drut Rosa M. , Harris Charles P. , Meisner Lorraine F. 
Published: February 2007

AbstractIn malignancies with a low mitotic index such as multiple myeloma (MM), conventional cytogenetic studies may not be informative. This study's purpose was to assess specific numerical chromosomal aberrations in non‐dividing MM cells by fluorescence in situ hybridization (FISH) of DNA chromosome probes on bone marrow smears. Old air‐dried bone marrow smears from 18 MM patients were probed with alpha satellite DNA sequences for chromosomes 7, X, and Y, and a whole painting probe for chromosome 11. Plasma cells were identified by their morphologic characteristics so that counts of fluorescent signals in the nuclei of MM cells could be differentiated from those of normal marrow cells. Numerical chromosome aberrations were found in 66.7% of the cases (12 of 18), including 5 cases of trisomy 7, 2 cases of tetraploidy, 2 cases of monosomy X in females, 2 cases of disomy X in males, and 1 case of nullisomy Y. In addition, 2 of the 7 cases probed with chromosome 11 paint demonstrated 3 signals in about 15% of the cells. This study illustrates the advantages of FISH for interphase analysis of chromosome aberrations in slowly dividing cells, as well as the ability to use old slides for retrospective studies. © 1993 Wiley‐Liss, Inc.
Clonal cytogenetic evolution in a squamous cell carcinoma of the skin from a xeroderma pigmentosum patient
Authors: Worsham Maria J. , Carey Thomas E. , Benninger Michael S. , Gasser Kathleen M. , Kelker Wolfgang , Zarbo Richard J. , van Dyke Daniel L. 
Published: February 2007

AbstractCytogenetic changes in epithelial neoplasms are often complex, making it difficult to determine which are the primary abnormalities and which are secondary. In this report, we describe clonal evolution in a cytogenetically simple, but clinically aggressive squamous cell cancer of the skin from a patient with xeroderma pigmentosum. Chromosome preparations were analyzed from a direct harvest, three independent primary harvests, and passaged cell lines. Three closely related tumor subclones were identified in the primary cultures, and all three proliferated in vitro. Monosomy 4 and a chromosome 9 rearrangement were present in all three subclones and monosomy 21 was present in two subclones. An i(9p) and an i(9q) were derived from the same chromosome 9, and there was concurrent loss of the homologous chromosome 9. In addition, each subclone was characterized by a further specific evolutionary change: t(5;7) (q11.2;p22) in subclone 1, der (11)t(10;11) (q21;p14) in subclone 2, and der (14)t(13;14) (q14;q32) in subclone 3. All three subclones were represented by hypodiploid and hypotetraploid metaphases. Loss of chromosomes from hypotetraploid cells and an 11q+ were the only other changes found in this tumor. The early genetic events in the evolution of this squamous cell cancer, monosomy 4, i(9p), i(9q), and monosomy 21, represent loss of chromosome regions that are commonly lost in other squamous cell carcinomas of the head and neck region. Taken together, these observations indicate that genes on these chromosomal regions are probably important and possibly sufficient for the development of squamous cell carcinoma. © 1993 Wiley‐Liss, Inc.
Clonal chromosome abnormalities in human breast carcinomas II. Thirty‐four cases with metastatic disease
Authors: Trent Jeffrey , Yang Jin‐Ming , Emerson Julia , Dalton William , McGee Daniel , Massey Kathy , Thompson Floyd , Villar Hugo 
Published: February 2007

AbstractCytogenetic analysis was performed on a selected series of short‐term cultures from 34 patients with documented metastatic breast carcinoma. The majority of tumor cells were hyperdiploid, with clonal structural alterations observed in 94% of patients (32/34). The most common numeric changes were –2, –15, and –18. Chromosome 20 was the most frequently overrepresented (in near‐3n tumors only). Clonal structural chromosome alterations included isochromosomes, terminal deletions, and, most frequently, unbalanced non‐reciprocal translocations. Chromosomes most often involved in structural rearrangements included 1, 7, 11, and 6 (accounting for 24.7%, 10.3%, 9.1%, and 7.0% of breakpoints, respectively). When the breakpoints of clonal structural abnormalities were analyzed, they were shown to cluster to several chromosome segments, including 1p11‐q21, 7pter, 11p12‐q12, and 6q11–21. An analysis of the net gain or loss of specific chromosome segments was also performed, with the most consistent tendency observed being the over‐representation of 1q, 6p, 7, and 11. The most frequent losses included 1p, 6q, 7, and 11q. © 1993 Wiley‐Liss, Inc.
Preferential clustering of chromosomal breakpoints in Burkitt's lymphomas and L3 type acute lymphoblastic leukemias with a t(8;14) translocation
Authors: Saglio Giuseppe , Borrello Maria Grazia , Guerrasio Angelo , Sozzi Gabriella , Serra Anna , Celle Paola Francia Di , Foa Robin , Ferrarini Manlio , Roncella Silvio , Pignatti Caterina Borgna , Marradi Pierluigi , Izzo Pietro , Soler Jesus , Pierotti Marco 
Published: February 2007

AbstractWe have analyzed the type of MYC/IG heavy‐chain locus (IGH) rearrangement present in 15 patients affected by t(8; 14)‐positive primary Burkitt's lymphoma or acute lymphoblastic leukemia of the L3 type in an attempt to map in detail the locations of the chromosome 8 and chromosome 14 breakpoints. The almost constant position of the chromosome 8 breakpoint (within or immediately 5′ of the MYC gene) together with two distinct clusters of breakpoints on chromosome 14 resulted in two main types of MYC/IGH (present in 12 of 15 cases). In the first type (six cases), the MYC gene or at least its coding portion was joined with the JH region on chromosome 14, whereas in the second, present in another six cases, the MYC gene and the Cαl region were juxtaposed. Physical linkage between the translocated MYC and a known enhancer element of the IGH locus is the common feature in the two types of rearrangement, suggesting that a high‐level constitutive expression plays a prominent role in MYC activation. Interestingly, the chromosome 14 break site within the switch α1 region, which has been only occasionally described in other cases, is present in 40% of our patients, suggesting the existence of preferential breakpoint cluster regions in cases of similar geographic origin. © 1993 Wiley‐Liss, Inc.
Structural organization of MYCN amplicons of neuroblastoma tumors, xenografts, and cell lines characterized by the sequences encompassing the MYCN amplicons in a human neuroblastoma cell line
Authors: Akiyama Kiyotaka , Kanda Naotoshi , Yamada Masao , Kato Mieko , Tadokoro Keiko , Matsunaga Tadashi , Nishi Yoshisuke 
Published: February 2007

AbstractWe characterized differences in the structural organization of the MYCN amplicons of a number of neuroblastomas by analyzing 8 contigs spanning 330 kb cloned from the MYCN amplicon of a neuroblastoma cell line. Some regions were amplified in almost all specimens, the conserved regions (CRs), and others were differentially amplified in some subsets, the non‐conserved regions (NCRs). CRs constituted only 20% of the 330 kb region, with the remainder being NCRs. The regions that inevitably co‐segregate with the MYCN gene make up the core, whereas flanking regions are retained at random. If a histogram of the frequency with which the amplified NCR sequences from one specimen match those of the cell line MC‐NB‐1 shows a random distribution, the NCRs would co‐segregate with MYCN as a result of random events. However, both the tumors and cell lines/xenografts showed a distribution with two distinct peaks; one from a group containing a small number of sequences with a fairly high degree of homology to the NCRs of MC‐NB‐1, and the other from a group containing a large number of sequences with little homology. These results indicate that the flanking segments are preferentially co‐segregated with MYCN by a non‐random mechanism. © 1993 Wiley‐Liss, Inc.
Regional fine mapping of the β crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2
Authors: Bijlsma Emilia K. , Delattre Olivier , Juyn Jenneke A. , Melot Thomas , Westerveld Andries , Dumanski Jan P. , Thomas Gilles , Hulsebos Theo J. M. 
Published: February 2007

AbstractNeurofibromatosis type 2 (NF2) is a rare autosomal dominant disease, characterized by the development of bilateral vestibular schwannomas. The NF2 gene has been assigned to chromosome 22. Cataract and other eye abnormalities are frequently seen in NF2 patients. The specific association of eye abnormalities and NF2 might be caused by a genetic change on chromosome 22 that affects both the NF2 gene and a physically linked crystallin gene. In order to test this hypothesis, we regionally localized the known crystallin genes (i.e. CRYBB2, CRYBB2P1, CRYBB3, and CRYBA4) on chromosome 22. Crystallin gene‐specific probes were hybridized to an extended panel of human x rodent somatic cell hybrids containing various portions of chromosome 22. It was found that all crystallin genes map to a very small region on chromosome 22 that is physically separate from the NF2 gene region by at least 160 kb of DNA. In addition, we found that the βB crystallin genes (CRYBB2, CRYBB2P1, and CRYBB3) are clustered on a 300 kb Sacll fragment and that the βA4 crystallin gene (CRYBA4) is not part of this cluster. We conclude that the ocular manifestations in many NF2 patients are probably not the primary consequence of rearrangements on chromosome 22 that involve both the NF2 gene and a nearby β crystallin gene.\\wiley5\wiley$\Wiley‐JWPH\final\jwph471
Cloning of a breakpoint cluster region at band 3q27 involved in human non‐Hodgkin's lymphoma
Authors: Deweindt Clotilde , Kerckaert Jean‐Pierre , Tilly Hervé , Quief Sabine , Nguyen Van Cong , Bastard Christian 
Published: February 2007

AbstractIn a previous cytogenetic analysis, we showed the recurrence of translocations involving band 3q27 and immunoglobulin gene regions in 20 out of 319 patients with non‐Hodgkin's lymphoma (NHL). We report here the molecular cloning of the translocation breakpoint from tumor cells of a patient (LAR) with t(3;14)(q27;q32) and the isolation of DNA probes which identify a major translocation cluster region (MTC) at band 3q27. A DNA library from LAR tumor cells was screened with a JH probe and several clones were identified corresponding either to a somatic rearrangement of JGH genes (V4‐D2‐J6‐Cμ clonal rearrangement) or to the t(3; 14). Analysis of the t(3; I 4) breakpoint showed that chromosome 3 material was translocated to an inverted 14q32 VH‐containing fragment which was itself translocated to the J3 gene. Chromosome 3‐assigned probes were used to investigate local DNA rearrangements in a series of NHL with 3q27 translocations. Rearrangements were detected in 13 of 17 patients including 9 of 11 with t(3;14)(q27;q32), I of 2 with t(2;3)(P12;q27), I of 2 with t(3;22)(q27;qII), and 2 of 2 NHL with translocations not involving an IG gene, namely, t(3;4)(q27;pII) and t(3;7)(q27;p12). The finding of this MTC should be useful for diagnostic and prognostic studies and for the identification of a novel oncogene at band 3q27 involved in the development of B cell NHL. © 1993 Wiley‐Liss, Inc.
Long‐range mapping of the 11q23 region involved in chromosome aberrations in human tumors by pulsed‐field gel electrophoresis with a yeast artificial chromosome
Authors: Akao Yukihiro , Tsujimoto Yoshihide , Seto Masao , Imai Takashi , Bergeron Dominique , Berbeau Benoit , Otsuki Yoshinori 
Published: February 2007

AbstractWe have previously demonstrated that the RCK gene involved in t(11;14)(q23;q32) and the more centromeric MLL/ALL1 gene involved in t(4;11)(q21;q23) and t(11;19)(q23;p13) are localized on different adjacent Notl fragments by using pulsed‐field gel electrophoresis (PFGE) analysis with the yeast artificial chromosome (YAC) clone yB22B2. The PFGE analysis using the YACs of YTY17 containing the prophobilinogen deaminase (PBGD), CBL2 and THY1 genes and yB22B2 allowed the following ordering of genes and breakpoints from CD3 to THY1 on 11q23: cent‐CD3‐ALL/MLL1‐RCK‐PBGD‐CBL2‐THY1, and the establishment of a long‐range restriction map covering these genes. In addition, we showed that the FLI1 region involved in the t(11;22)(q24;q12) in Ewing's sarcoma was more telomeric region than the THY1 gene by analyzing somatic cell hybrids carrying the 11q‐ and/or 14q+ chromosome of the t(11;14)(q23;q32) translocation, and by PFGE analysis of the YAC clone YTY17. © 1993 Wiley‐Liss, Inc.
Molecular cytogenetic analysis of i(12p)‐negative human male germ cell tumors
Authors: Rodriguez Eduardo , Houldsworth Jane , Reuter Victor E. , Meltzer Paul , Zhang Ji , Trent Jeffrey M. , Bosl George J. , Chaganti R. S. K. 
Published: February 2007

AbstractThe i(12p) chromosome has been shown to characterize more than 80% of male germ cell tumors (GCTs) and is an important diagnostic marker. Although recent cytogenetic analyses of GCTs have defined nonrandom chromosome abnormalities in these tumors, no attempt has so far been made to compare i(12p)‐positive and ‐negative tumors in terms of their cytogenetic, histologic, and clinical features. During a 5‐year period, we have ascertained 202 GCTs, of which 117 had clonally abnormal karyotypes. Among the latter, 91 had one or more copies of i(12p), whereas 26 lacked an i(12p). We report here the karyotypic analysis of these 26 i(12p)‐negative GCTs. In this group, nonrandom sites of chromosomal rearrangements included 12p13 (9/26) and 1p11‐q11 (5/26). Comparison of the cytogenetic features of i(12p)‐negative tumors with i(12p)‐positive tumors revealed the only significant difference to be rearrangements affecting 12p 13 in the former (35%) as compared to their absence in the latter (3%). Hybridization of metaphase preparations of 9 i(12p)‐negative tumors with a chromosome 12 painting probe and with a microdissected 12p painting probe revealed extra copies of chromosome 12 segments incorporated into marker chromosomes whose composition could not otherwise be resolved by banding analysis; all were shown to be derived from 12p. These data demonstrate that both i(12p)‐negative and ‐positive groups are characterized by an increased copy number of 12p, which is consistent with a lack of significant clinical or biological difference between them. An increased 12p copy number thus is a specific aberration of significance to the development of germ cell tumors. © 1993 Wiley‐Liss, Inc.
Translocation of BCR to chromosome 9: A new cytogenetic variant detected by FISH in two Ph‐negative, BCR‐positive patients with chronic myeloid leukemia
Authors: Hagemeijer Anne , Buijs Arjan , Smit Elizabeth , Janssen Bart , Creemers Geert‐Jan , Plas Dorien Van Der , Grosveld Gerard 
Published: February 2007

AbstractLeukemic cells from two patients with Philadelphia‐negative chronic myeloid leukemia (CML) were investigated: I) Cytogenetics showed a normal 46.XY karyotype in both cases, 2) molecular studies revealed rearrangement of the M‐BCR region and formation of BCR‐ABL fusion mRNA with b2a2 (patient I) or b3a2 (patient 2) configuration, and 3) fluorescence in situ hybridization (FISH) demonstrated relocation of the 5′ BCR sequences from one chromosome 22 to one chromosome 9. The ABL probe hybridized to both chromosomes 9 at band q34, while two other probes which map centromeric and telomeric of BCR on 22q 11 hybridized solely with chromosome 22. For the first time, a BCR‐ABL rearrangement is shown to take place on 9q34 instead of in the usual location on 22q 11. A rearrangement in the latter site is found in all Ph‐positive CML and in almost all investigated CML with variant Ph or Ph‐negative, BCR‐positive cases. The few aberrant chromosomal localizations of BCR‐ABL recombinant genes found previously were apparently the result of complex and successive changes. Furthermore in patient 2, both chromosomes 9 showed positive FISH signals with both ABL and BCR probes. Restriction fragment length polymorphism (RFLP) analysis indicated that mitotic recombination had occurred on the long arm of chromosome 9 and that the rearranged chromosome 9 was of paternal origin. The leukemic cells of this patient showed a duplication of the BCR‐ABL gene, analogous to duplication of the Ph chromosome in classic CML. In addition they had lost the maternal alleles of the 9q34 chromosomal region. The lymphocytes of patient 2 carried the maternal chromosome 9 alleles and were Ph‐negative as evidenced by RFLP and FISH analyses, respectively. © 1993 Wiley‐Liss, Inc.
Identification of a novel protein with GDP dissociation inhibitor activity for the ras‐like proteins CDC42Hs and Rac 1
Authors: Adra Chaker N. , Ko Jon , Leonard David , Wirth Lori J. , Cerione Richard A. , Lim Bing 
Published: February 2007

AbstractWe have recently cloned the human cDNA for a gene, denoted D4, that encodes a protein 67% identical to the bovine rhoGDI protein, a GDP dissociation inhibitor (GDI) for the ras‐related rho‐subtype proteins. We now present data on the cloning and structural analysis of the murine D4 cDNA and confirm its preferential expression in hematopoietic tissues. The predicted murine and human D4 proteins are almost 90% identical, indicating that D4 and rhoGDI are different genes and that they are probably members of a related family of genes. Functional studies with the human D4 protein demonstrate that D4 has GDI activity against the CDC42Hs and rac I proteins, but binds to these proteins with a significantly weaker affinity than does the rho‐subtype GDI. These data suggest that D4, which will in subsequent communications be denoted as GDI.D4, might be a GDI for other known or as yet unidentified ras‐like GTP‐binding proteins. Alternatively, D4 could have other biochemical functions. During murine embryogenesis, D4 transcripts are detected in yolk‐sac cells, where the earliest hematopoietic precursors are found. When these precursors undergo proliferation and differentiation in vitro, a dramatic increase in D4 expression is seen. D4 probably has a significant function during the growth and development of hematopoietic precursors. © 1993 Wiley‐Liss, Inc.
Multiple genetic events involving rbi gene deletion and amplification of chromosome 21 in a case of acute lymphocytic leukemia
Authors: Liu Yie , Heyman Mats , Grandér Dan , Einhorn Stefan , Söderhäll Stefan , Bröndum‐Nielsen Karen 
Published: February 2007

AbstractA patient with acute lymphocytic leukemia was found to have a hyperdiploid karyotype, characterized by hexasomy 21 and del(7)(p15). It was shown that the four extra copies of chromosome 21 were all derived from only one of the homologous chromosomes. Molecular analysis showed that the patient had a deletion of both alleles of the retinoblastoma (RBI) gene. These results suggest that multiple events, including loss of RBI gene function and amplification of a key gene(s) on chromosome 21, have contributed to the leukemic transformation. Genes Chrom Cancer 9:72‐75 (1994). © 1994 Wiley‐Liss, Inc.
Enhanced MYCN expression and lsochromosome 17q in pineoblastoma cell lines
Authors: Kees Ursula R. , Ford Jette , Ranford Pamela R. , Peroni Susanne E. , Biegel Jaclyn A. , Parmiter Annette H. , Hallam Lavinia A. , Willoughby Michael L. N. , Spagnolo Dominic 
Published: February 2007

AbstractWe have established two cell lines, PER‐452 and PER‐453, from an 8‐month‐old girl with an extensive pineoblastoma. Characterization of these lines revealed that the proto‐oncogenes MYC and MYCN were not amplified, but both cell lines showed MYCN expression comparable to a cell line with 200‐fold MYCN amplification. Both cell lines contained an i( 17q). These results support the concept that pineoblastomas belong to a larger group of primitive neuroectodermal tumors of the central nervous system. These two cell lines provide a unique opportunity to investigate the molecular genetic mechanisms underlying these neoplasms further. Genes Chrom Cancer 9:129‐135 (1994).© 1994 Wiley‐Liss, Inc.