Somatic pairing of chromosome 1 centromeres in interphase nuclei of human cerebellum

1989 ◽  
Vol 83 (3) ◽  
pp. 231-234 ◽  
Author(s):  
E. P. J. Arnoldus ◽  
A. C. B. Peters ◽  
G. T. A. M. Bots ◽  
A. K. Raap ◽  
M. van der Ploeg
Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4746-4746
Author(s):  
Eulalia Puigdecanet ◽  
Blanca Espinet ◽  
Olaya Villa ◽  
Lurdes Zamora ◽  
Carles Besses ◽  
...  

Abstract Introduction. Essential thrombocythemia (ET) is a chronic myeloproliferative disorder (CMPD) with heterogeneous features and no specific diagnostic markers. Consequently, its diagnosis is based on exclusion of other CMPD and secondary thrombocytosis. The role of PRV-1 (Polycythemia rubra vera-1), TPO (Thrombopoietin) and c-Mpl (Myeloproliferative leukemia virus oncogene) in ET pathogenesis has been studied in order to find new molecular targets which would help in ET diagnosis. PRV-1 gene is overexpressed in granulocytes from polycythemia vera (PV) and in some ET patients. TPO serum levels are not diagnostically useful and c-Mpl expression in megakaryocytes and platelets are generally decreased in ET. Mutations in TPO and c-MPL genes have been detected in familial thrombocythemia, but not in patients with acquired ET. The aim of the present study was to analyse PRV-1, TPO and c-MPL genes status by fluorescence in situ hybridization (FISH) technique in order to find new molecular markers in ET patients. Patients and Methods. Thirty bone marrow samples of ET patients (7M/23F) diagnozed by PVSG criteria with a normal karyotype and 10 bone marrow samples of normal healthy donors were included in the study. All samples were studied by three locus-specific probes for PRV-1, TPO and c-MPL genes as follows: 1. PRV-1 gene (BAC RP11-160A19, 157 Kb, located at 19q13.12-2) labeled in red cohybridized with the 19p telomeric probe (D19S238E, Vysis) labeled in green. 2. TPO gene (BAC RP11-45NP16, 183 Kb, located at 3q27) labeled in green cohybridized with the centromeric probe for chromosome 3 (D3Z1, Vysis) labeled in red. 3. c-MPL gene (BAC RP11-297L5, 190 Kb, located at 1p34) labeled in green cohybridized with the centromeric probe for chromosome 1 (D1Z5, Vysis) labeled in orange. A minimum of 100 interphase nuclei were analyzed. Results. FISH study showed no PRV-1, TPO and c-MPL cytogenetic abnormalities in any of the analyzed cases, except for one patient in which 21% of interphase nuclei presented a trisomy for the TPO gene region. The monosomy and trisomy thresholds were 6.1% and 4.7% for PRV-1, 4.9% and 3.4% for TPO, and 5.4% and 3.71% for c-MPL, respectively. Conclusions. Our results suggest a lack of structural and numerical rearrangements of PRV-1, TPO and c-MPL genes in ET patients. The PRV-1 gene FISH results are in line with the previously reported by Najfeld et al (Exp Hematol2003;31:118–21); regarding TPO and c-MPL results, this is the first FISH study reported in the literature in ET.


1992 ◽  
Vol 63 (2) ◽  
pp. 167
Author(s):  
N. Van Roy ◽  
G. Laureys ◽  
Y. Benoit ◽  
P. Heimann ◽  
E. Sariban ◽  
...  

1991 ◽  
Vol 52 (2) ◽  
pp. 246 ◽  
Author(s):  
Josée J. König ◽  
Sandra de Jong ◽  
Anne Hagemeijer ◽  
Hans Romijn ◽  
Fritz H. Schröder

1989 ◽  
Vol 94 (2) ◽  
pp. 299-306
Author(s):  
H. van Dekken ◽  
D. Pinkel ◽  
J. Mullikin ◽  
B. Trask ◽  
G. van den Engh ◽  
...  

This report describes the intranuclear organization of chromosomes in human-hamster hybrid nuclei and in human cell nuclei. The target chromosomes were stained using in situ hybridization with biotinylated, chromosome-specific DNA probes. Bound probe was detected with fluorescein-avidin. Hybridizations were performed to fixed nuclei in aqueous suspension in order to preserve their three-dimensional morphology. Total nuclear DNA was stained with DAPI. Three-dimensional information about the organization of DNA and probe within the nucleus was obtained by optical sectioning. The human chromosomes in human-hamster hybrid nuclei were found to be confined to ‘domains’ that were maintained during the cell cycle. Different spatial localization patterns of the human chromosomes were seen in interphase nuclei of two different hybrid cell lines. The positions of chromosome-specific repetitive sequences in human fibroblast interphase nuclei were also studied using probes for the telomeric region of chromosome 1p (1p36), the centromeric region of chromosome 9 (9q12) and the long arm of the Y chromosome (Yq12). These studies showed that the two 1p telomeric loci are located near the nuclear surface. The chromosome 9 centromeric loci are similarly located. Simultaneous hybridization of the chromosome 1 telomeric probe (target size approximately 200 kb; b, base) and the Y-specific probe (target size greater than 2Mb), demonstrate that the binding sites of the two probes can be distinguished in the same nucleus on the basis of domain size.


2005 ◽  
Vol 53 (3) ◽  
pp. 401-408 ◽  
Author(s):  
Ivan Y. Iourov ◽  
Ilia V. Soloviev ◽  
Svetlana G. Vorsanova ◽  
Viktor V. Monakhov ◽  
Yuri B. Yurov

A number of applied molecular cytogenetic studies require the quantitative assessment of fluorescence in situ hybridization (FISH) signals (for example, interphase FISH analysis of aneuploidy by chromosome enumeration DNA probes; analysis of somatic pairing of homologous chromosomes in interphase nuclei; identification of chromosomal heteromorphism after FISH with satellite DNA probes for differentiation of parental origin of homologous chromosome, etc.). We have performed a pilot study to develop a simple technique for quantitative assessment of FISH signals by means of the digital capturing of microscopic images and the intensity measuring of hybridization signals using Scion Image software, commonly used for quantification of electrophoresis gels. We have tested this approach by quantitative analysis of FISH signals after application of chromosome-specific DNA probes for aneuploidy scoring in interphase nuclei in cells of different human tissues. This approach allowed us to exclude or confirm a low-level mosaic form of aneuploidy by quantification of FISH signals (for example, discrimination of pseudo-monosomy and artifact signals due to over-position of hybridization signals). Quantification of FISH signals was also used for analysis of somatic pairing of homologous chromosomes in nuclei of postmortem brain tissues after FISH with “classical” satellite DNA probes for chromosomes 1, 9, and 16. This approach has shown a relatively high efficiency for the quantitative registration of chromosomal heteromorphism due to variations of centromeric alphoid DNA in homologous parental chromosomes. We propose this approach to be efficient and to be considered as a useful tool in addition to visual FISH signal analysis for applied molecular cytogenetic studies.


2018 ◽  
Author(s):  
Maedbh King ◽  
Rich Ivry ◽  
Joern Diedrichsen
Keyword(s):  

2020 ◽  
Vol 57 (3) ◽  
pp. 181-189
Author(s):  
Asma Majid ◽  
GA Parray ◽  
NR Sofi ◽  
Gazala H Khan ◽  
Showkat A Waza ◽  
...  

Rice being a staple food crop of Kashmir valley, the focus is on enhancement of yield in order to meet the needs of ever-growing population.Identification of new parental lines is crucial for developing ecology-specific hybrids with ideal agronomic performance. Exploitation of heterosis in the form of hybrid rice technology can be one of the approaches to increase productivity in this crop, especially exploiting diversity among japonica lines can serve as an excellent route.A number of CMS lines suitable formountainous areas of Kashmir have been developed, however, the availability of promising restorer lines remains to be the major limitation for utilization of these lines.Identification of potential restorers acts as the main limiting factor for hybrid development in the Kashmir valley. Marker based screening for Rf3 and Rf4 fertility restorer genes can be helpful in rapid selection of restorer lines while dealing with the large quantity of genetic materials. In the present study, 100 rice germplasm were screened with the help of SSR markers, RM3148 and RM6100linked to Rf3 and Rf4 genes on chromosome 1 and 10, respectively. In total, 19 lines revealed the presence of both Rf3 and Rf4 genes. These lines amplified fertility restorer specific alleles for both the genes and may serve as potential restorers for obtaining heterotic rice hybrids. Further the germplasm lines were also evaluated for yield and quality traits.The present results would help in selection of suitable restorers along with preferred grain shape/size.


Author(s):  
Scott Marek ◽  
Joshua S. Siegel ◽  
Evan M. Gordon ◽  
Ryan V. Raut ◽  
Caterina Gratton ◽  
...  

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