Search results for "Breakpoint"
showing 10 items of 70 documents
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates
2000
Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an evolutionarily conserved sex-determining gene, DMRT1, is a very fast and reliable assay for patient screening. Comparative YAC mapping on great ape and Old and New World monkey chromosomes demonstrated that the critical region was moved from an interstitial position on the…
Distinct Xp11.2 breakpoints in two renal cell carcinomas exhibiting X;autosome translocations
1995
Several human renal cell carcinomas with X;autosome translocations have been reported in recent years. The t(X; I)(p11.2;q21) appears to be a specific primary anomaly, suggesting that tumors with this translocation form a distinct subgroup of RCC. Here we report two new cases, one with a t(X;10)(p11.2;q23), the other with a t(X;1)(p11.2;p34). The common breakpoint in Xp11.2 suggests that they belong to the above-mentioned subset of RCC. Using FISH in conjunction with X-specific YAC clones, we demonstrate that the two new cases exhibited distinct breakpoints within Xp11.2. (C) 1995 Wiley-Liss, Inc.
Reconstructing the Phylogeny of the Human Chromosome 4 Synteny using Comparative Karyology and Genomic Data Analysis
2010
Abstract This work focuses on the evolution of the architecture of human chromosome 4 (HSA4) through the analysis of chromosomal regions that have been conserved over time, and the comparison of regions that have been involved in different rearrangements in placental lineages. As with most elements of the human genome, HSA4 is considered to be evolutionarily stable. A more detailed analysis indicates that the syntenic association has been reshuffled by a series of rearrangements, yielding different chromosomes in various taxa. In its ancestral eutherian state, HSA4 has a syntenic association with HSA8p. We investigated the complex origin of this human chromosome using three different approa…
Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
2012
Neuroblastoma is an aggressive embryonal tumor that accounts for similar to 15% of childhood cancer deaths. Hitherto, despite the availability of comprehensive genomic data on DNA copy number changes in neuroblastoma, relatively little is known about the genes driving neuroblastoma tumorigenesis. In this study, high resolution array comparative genome hybridization (CGH) was performed on 188 primary neuroblastoma tumors and 33 neuroblastoma cell lines to search for previously undetected recurrent DNA copy number gains and losses. A new recurrent distal chromosome 1q deletion (del(1)(q42.2qter)) was detected in seven cases. Further analysis of available array CGH datasets revealed 13 additio…
The determination of maturity stages in male elasmobranchs (Chondrichthyes) using a segmented regression of clasper length on total length
2013
A novel statistical method for estimating the stages of maturity in male sharks and skates based on a segmented regression (SRM) is proposed. We hypothesize that this method is able to find the transition points in the three-phase relationship between total length (TL) and clasper length (CL). We applied an SRM to TL–CL data of nine species, from large pelagic sharks (e.g., Carcharhinus falciformis) to small coastal skates (e.g., Rioraja agassizi), captured in the southwestern Atlantic and northeastern Pacific. As expected, SRM detected two breakpoints, defining three maturity stages (immature, maturing, and mature), in six out of nine species. For three species, it was not possible to fin…
Variabilité de la température entre 1951 et 2014 en Allemagne associée à l’évolution de la floraison des pommiers.
2018
Apple tree bloom onset in Germany has advanced by 2 days/decade in 1951-2014 and by 3 days/decade in 1988-2014, behaving similarly in respect to its evolution since 1951 and its sensitivity to temperature to other species’ phenological spring phases. The evolution however was not linear; by conducting a split moving-window dissimilarity analysis (SMWDA) we were able to detect the “break-period” 1987-1989 which coincides with a breakpoint that has been identified in the phases of the North Atlantic Oscillation (NAO). We observed distinct spatial patterns with apple bloom advancing from southwest to northeast and, most interestingly, a longitudinal gradient in the trend of apple bloom onset r…
Cationic lipide mediated transfer of c-abl and bcr antisense oligonucleotides to immature normal myeloid cells: Uptake, biological effects and modula…
1996
Uptake and biochemical and biological effects of antisense oligodeoxynucleotides (ODN) specific for c-abl and bcr genes were studied in normal immature myeloid cells. CD34-positive cells were purified by positive and negative selection and cultured in liquid culture for 7 days. These cells were then incubated with ODNs, either alone or in combination with cationic lipids. The uptake of ODNs was enhanced by the use of cationic lipids. In addition, very low concentrations of ODNs in combination with cationic lipids were capable of specifically inhibiting the expression of the c-abl gene. In contrast, no effects were seen on the expression of bcr. However, despite the effective blocking of c-a…
Segmented relationships to model erosion of regression effect in Cox regression
2010
In this article we propose a parsimonious parameterisation to model the so-called erosion of the covariate effect in the Cox model, namely a covariate effect approaching to zero as the follow-up time increases. The proposed parameterisation is based on the segmented relationship where proper constraints are set to accomodate for the erosion. Relevant hypothesis testing is discussed. The approach is illustrated on two historical datasets in the survival analysis literature, and some simulation studies are presented to show how the proposed framework leads to a test for a global effect with good power as compared with alternative procedures. Finally, possible generalisations are also present…
Quantifying treatment effects when flexibly modeling individual change in a nonlinear mixed effects model
2021
A core task in analyzing randomized clinical trials based on longitudinal data is to find the best way to describe the change over time for each treatment arm. We review the implementation and estimation of a flexible piecewise Hierarchical Linear Model (HLM) to model change over time. The flexible piecewise HLM consists of two phases with differing rates of change. The breakpoints between these two phases, as well as the rates of change per phase are allowed to vary between treatment groups as well as individuals. While this approach may provide better model fit, how to quantify treatment diff erences over the longitudinal period is not clear. In this paper, we develop a procedure for summ…