Search results for "SOMAL TRANSLOCATION"
showing 10 items of 104 documents
Evaluation of genetic stability of the SYT gene rearrangement by break-apart FISH in primary and xenotransplanted synovial sarcomas
2006
Synovial sarcomas (SS) are infrequent and morphologically heterogeneous soft tissue sarcomas. The t(X;18)(p11.2;q11.2), which results in fusion of the SYT gene at 18q11 with the SSX1, SSX2, or (rarely) SSX4 gene is a primary genetic event in 90% of SS. To determine whether the t(X;18) present in the original tumor is maintained in its passages, a dual-color break-apart FISH assay for SYT gene disruption was performed in two tissue microarrays (TMA) comprising eight molecularly confirmed primary SSs and their xenografts, which were followed for several generations. A simplified scoring system was applied to the FISH results of the primary and xenotransplanted SS to classify the FISH data int…
Genomic Abnormalities Acquired in the Blastic Transformation of Splenic Marginal Zone B-cell Lymphoma
2003
Among 20 cases of typical splenic marginal zone lymphoma (SMZL), two cases had blastic transformation. The genetic mechanisms underlying the morphologic transformation were investigated by comparing genetic changes in initial and blastic phases. A complex karyotype including trisomy of 3q and genomic gain of 17q22-q24 was seen in both cases at diagnosis. However, the extra copy of 3q was lost during the transformation process in both tumors. Additionally, the Karpas 1718 cell line, which was derived from a patient with transformed SMZL and carried a trisomy of 3q, also evidenced the spontaneous loss of the extra 3q during the culturing process. Other acquired abnormalities observed exclusiv…
Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review.
1997
Renal oncocytomas comprise a cytogenetically heterogeneous group of tumors consisting potentially of cytogenetic distinguishable subgroups. Review of the literature revealed loss of chromosome 1 and Y as a possible anomaly for at least one subset of oncocytomas. The frequent finding of rearrangements involving chromosome 11 band q13 characterizes another subset of oncocytomas. We report the cytogenetic and pathological features of a renal oncocytoma diagnosed in a 72-year-old woman and found a t(9;11)(p23;q13) as a consistent abnormality. This supports the idea that translocations involving 11q13 define a further subset of oncocytoma. (C) Elsevier Science Inc., 1997.
Kinetic models for nucleocytoplasmic transport of messenger RNA
1995
Abstract Much is known about the mechanism by which mRNAs cross the nuclear envelope (the translocation stage of nucleocytoplasmic transport), but far less is known about the preceding (intranuclear migration/release) and succeeding (cytoplasmic binding) stages. Therefore, existing information suffices for articulating detailed kinetic models of translocation, but not models for the overall mRNA transport process. In this paper, we show that simple kinetic models of translocation can (i) accommodate date about nucleocytoplasmic distributions of endogenous transcripts; (ii) predict the overall effects on these distributions of effectors such as insulin and epidermal growth factor; (iii) thro…
Light-Dependent Translocation of Arrestin in Rod Photoreceptors is Signaled through a Phospholipase C Cascade and Requires ATP
2009
Light adaptation of rod photoreceptors induces translocation of arrestin from inner segments (IS) to outer segments (OS). Our study suggests that components of the G-protein linked phosphoinositide pathway play a role in signaling the initiating events of arrestin translocation. We show that arrestin translocation can be stimulated by activators of phospholipase C (PLC) and protein kinase C (PKC) in the absence of light. Conversely, arrestin translocation to the OS is significantly slowed by inhibitors of PLC and PKC.In the second part of this study, we investigated the mechanism by which arrestin translocates in response to light. Other investigators have suggested that arrestin translocat…
Eradicating Mosquitoes using Translocations
1969
CHROMOSOMAL translocations have been suggested1,2 as useful mechanisms for genetic control: translocation heterozygotes produce fewer offspring because some of their gametes do not receive a full chromosomal complement. The resultant semisterility has been observed in many plants and animals, chiefly after irradiation or other treatments of laboratory stocks but only rarely in natural populations. Spontaneous translocations originating in a field population are usually eliminated3 quickly because of the lower productivity they confer on the heterozygotes. They can become fixed in all members of a population only if it is small and isolated4.
Eradicating Mosquitoes using Translocations: a First Field Experiment
1972
THEORETICAL considerations have led to the assumption that chromosomal translocations with ensuing semisterility could be used to control pests1–3. Inversions could have the same effect in animals and plants in which crossing over occurs in both sexes4. Many translocations of different type and with various degrees of sterility have been produced in the mosquito Culex pipiens5–8. Preliminary laboratory experiments with these translocations have shown that a cage population can be diminished and finally exterminated after a few generations by the release of translocation heterozygotes into the population9.
Inherited semisterility for control of harmful insects. I. Productions of semisterility due to translocation in the mosquito,Culex pipiens L., by X-r…
1971
In Anbetracht der theoretischen und in einem Freilandexperiment bereits erwiesenen Moglichkeit der Bekampfung von Schadinsekten durch Freilassung semisteriler Tiere wurde die Produktion von Translokationen und damit verbundener Semisterilitat bei der StechmuckeCulex pipiens untersucht. Die Totalrate der erzeugten Translokationen liegt bei Stechmucken im Vergleich zuDrosophila auffallend hoch. Es besteht offenbar eine Korrelation zwischen der Gesamtlange der Chromosomen und der Translokationsrate.
Interrogation of genomes by molecular copy-number counting (MCC)
2006
Human cancers and some congenital traits are characterized by cytogenetic aberrations including translocations, amplifications, duplications or deletions that can involve gain or loss of genetic material. We have developed a simple method to precisely delineate such regions with known or cryptic genomic alterations. Molecular copy-number counting (MCC) uses PCR to interrogate miniscule amounts of genomic DNA and allows progressive delineation of DNA content to within a few hundred base pairs of a genomic alteration. As an example, we have located the junctions of a recurrent nonreciprocal translocation between chromosomes 3 and 5 in human renal cell carcinoma, facilitating cloning of the br…
MICRODISSECTION AND DOP-PCR-BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORM…
1996
Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:…