Search results for "translocation"
showing 10 items of 195 documents
Intensive Management and Natural Genetic Variation in Red Deer (Cervus elaphus)
2017
The current magnitude of big-game hunting has outpaced the natural growth of populations, making artificial breeding necessary to rapidly boost hunted populations. In this study, we evaluated if the rapid increase of red deer (Cervus elaphus) abundance, caused by the growing popularity of big-game hunting, has impacted the natural genetic diversity of the species. We compared several genetic diversity metrics between 37 fenced populations subject to intensive management and 21 wild free-ranging populations. We also included a historically protected population from a national park as a baseline for comparisons. Contrary to expectations, our results showed no significant differences in geneti…
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…
Genetic rearrangement of the atzAB atrazine-degrading gene cassette from pADP1::Tn5 to the chromosome of Variovorax sp. MD1 and MD2
2007
International audience; We report the characterization of the rearrangement phenomena responsible for the movement of the atrazine-degrading atzA and B genes from pADP1::Tn5 to the chromosome of Variovorax sp. MD1 and MD2. Long PCRs and Southern blot analyses revealed that the two genes forming a gene cassette moved in a unique rearrangement event. It also revealed that the boundaries of the plasmid sequence inserted in the chromosome correspond to IS1071or to sequences close to IS1071. It suggests that this genetic rearrangement could result from the transposition of the composite transposon delimited by IS1071 insertion sequences and containing atzA and atzB genes. In addition, for MD1 an…
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.
Rethinking vineyard ground management to counter soil tillage erosion
2022
Tillage erosion is a relevant process of soil redistribution in sloping arable land, but little research has analysed the effect of shallow tillage on soil erosion in vineyards. The goal of this study was to quantify the soil tillage effect on soil translocation and erosion at the territorial level in a large vineyard area in Sicily. The soil loss and soil erosion tolerance limits were compared to identify the vineyards with a high risk of soil degradation. An alternative management scenario to traditional tillage was proposed to evaluate the effectiveness of the best management practices on soil conservation. The experimental trials were conducted in 14 vineyards with different slopes and …
BCR-ABL as a target for novel therapeutic interventions.
2002
The BCR-ABL oncogene is the result of a reciprocal translocation between the long arms of chromosome 9 and 22 t(9; 22). There is good experimental evidence demonstrating that BCR-ABL is the single causative abnormality in chronic myeloid leukaemia (CML), making it a unique model for the development of molecular targets. In addition to CML, BCR-ABL transcripts can be found in a minority of acute lymphoblastic leukaemias and very rarely in acute myeloid leukaemia (AML). Elucidating the molecular mechanisms and downstream pathways of BCR-ABL has led to the design of several novel therapeutic approaches. In this review, molecular targeting of BCR-ABL will be discussed based on the inhibition of…
Salmonella bongori Provides Insights into the Evolution of the Salmonellae
2011
The genus Salmonella contains two species, S. bongori and S. enterica. Compared to the well-studied S. enterica there is a marked lack of information regarding the genetic makeup and diversity of S. bongori. S. bongori has been found predominantly associated with cold-blooded animals, but it can infect humans. To define the phylogeny of this species, and compare it to S. enterica, we have sequenced 28 isolates representing most of the known diversity of S. bongori. This cross-species analysis allowed us to confidently differentiate ancestral functions from those acquired following speciation, which include both metabolic and virulence-associated capacities. We show that, although S. bongori…
Least-squares community extraction in feature-rich networks using similarity data
2021
We explore a doubly-greedy approach to the issue of community detection in feature-rich networks. According to this approach, both the network and feature data are straightforwardly recovered from the underlying unknown non-overlapping communities, supplied with a center in the feature space and intensity weight(s) over the network each. Our least-squares additive criterion allows us to search for communities one-by-one and to find each community by adding entities one by one. A focus of this paper is that the feature-space data part is converted into a similarity matrix format. The similarity/link values can be used in either of two modes: (a) as measured in the same scale so that one may …
Prediction models based on soil properties for evaluating the uptake of eight heavy metals by tomato plant (Lycopersicon esculentum Mill.) grown in a…
2021
The aim of this study is to design de novo prediction models in order to gauge the likely uptake of eight heavy metals (Al, Cr, Cu, Fe, Mn, Ni, Pb and Zn) by Lycopersicon esculentum, the tomato plant. Uptake was assessed within the plant’s root, stem, leaf and fruit tissues, respectively. The plant was cultivated in soil amended by different application rates of sewage sludge, i.e. 0, 10, 20, 30 and 40 g/kg. The roots exhibited markedly elevated heavy metal concentrations compared to the above-ground plant components, with the exception of the quantity of Ni in the leaves. Apart from Al, Fe and Mn, a bioconcentration factor >1 was identified for all heavy metals. Excluding Ni in the leaves,…
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocat…
2006
Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the tr…