Search results for " inversion"

"Islands of divergence" in the Atlantic cod genome represent polymorphic chromosomal rearrangements

2016

- In several species genetic differentiation across environmental gradients or between geographically separate populations has been reported to center at “genomic islands of divergence,” resulting in heterogeneous differentiation patterns across genomes. Here, genomic regions of elevated divergence were observed on three chromosomes of the highly mobile fish Atlantic cod (Gadus morhua) within geographically fine-scaled coastal areas. The “genomic islands” extended at least 5, 9.5, and 13 megabases on linkage groups 2, 7, and 12, respectively, and coincided with large blocks of linkage disequilibrium. For each of these three chromosomes, pairs of segregating, highly divergent alleles were id…

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

2016

The growing catalogue of structural variants in humans often overlooks inversions as one of the most difficult types of variation to study, even though they affect phenotypic traits in diverse organisms. Here, we have analysed in detail 90 inversions predicted from the comparison of two independently assembled human genomes: the reference genome (NCBI36/HG18) and HuRef. Surprisingly, we found that two thirds of these predictions (62) represent errors either in assembly comparison or in one of the assemblies, including 27 misassembled regions in HG18. Next, we validated 22 of the remaining 28 potential polymorphic inversions using different PCR techniques and characterized their breakpoints …

Trans-oceanic genomic divergence of Atlantic cod ecotypes is associated with large inversions

2017

Chromosomal rearrangements such as inversions can play a crucial role in maintaining polymorphism underlying complex traits and contribute to the process of speciation. In Atlantic cod (Gadus morhua), inversions of several megabases have been identified that dominate genomic differentiation between migratory and nonmigratory ecotypes in the Northeast Atlantic. Here, we show that the same genomic regions display elevated divergence and contribute to ecotype divergence in the Northwest Atlantic as well. The occurrence of these inversions on both sides of the Atlantic Ocean reveals a common evolutionary origin, predating the >100 000-year-old trans-Atlantic separation of Atlantic cod. The long…

Orientation-invariance of individual differences in three face processing tasks

2019

Numerous studies have reported impairments in perception and recognition, and, particularly, in part-integration of faces following picture-plane inversion. Whether these findings support the notion that inversion changes face processing qualitatively remains a topic of debate. To examine whether associations and dissociations of the human face processing ability depend on stimulus orientation, we measured face recognition with the Cambridge Face Memory Test (CFMT), along with experimental tests of face perception and selective attention to faces and non-face objects in a sample of 314 participants. Results showed strong inversion effects for all face-related tasks, and modest ones for non-…

Identification of the crossing point at N=21 between normal and intruder configurations

2017

R. Lica et al. -- 6 pags., 3 figs. -- Open Access funded by Creative Commons Atribution Licence 4.0

Optimized and automated estimation of vegetation properties: Opportunities for Sentinel-2

2014

La Biosfera es uno de los principales sistemas que conforman la Tierra. Su estudio permite comprender la relación entre la vegetación y el ciclo del carbono y cómo éste puede ser afectado por los cambios en los niveles de CO2 y los usos de suelo. Para el estudio de estas dinámicas a escala global y local, han sido desarrollados diversos modelos que son representaciones de la realidad en una escala y complejidad más simple. Parte de las variables de entrada de estos modelos son obtenidas mediante medidas de teledetección gracias al Global Climate Observing System (GCOS), que ha determinado un conjunto de 50 variables climáticas esenciales que contribuyen a los estudios de cambio climático qu…

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…

2008

A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Evaluation of the apparent diffusion coefficient in patients with recurrent glioblastoma under treatment with bevacizumab with radiographic pseudores…

2017

Abstract Background Response Assessment in Neuro-Oncology Criteria (RANO), are used to asses response to first-line treatment of glioblastoma (GBM). Differentiation between response and pseudoresponse under treatment with Bevacizumab (BVZ) remains challenging. This study evaluates ADC changes in patients with radiographic pseudoresponse under treatment with (BVZ). Methods Patients (n = 40) with recurrent GBM under-treatment with BVZ underwent MRI before, two and four months after treatment with BVZ. In patients with radiological pseudoresponse (n = 11), ADC analyses were performed. Areas with decreasing T1 contrast enhancement (CE) and FLAIR signal decrease were manually selected and compar…

Variant Three-Way Translocation of Inversion 16 in AML-M4Eo Confirmed by Fluorescence In Situ Hybridization Analysis

1999

The inv(16) and t(16;16) characterize a subgroup of acute myelomonocytic leukemia (AML) with distinct morphological features and a favorable prognosis. Both cytogenetic abnormalities result in a fusion of CBF beta at 16q22 and MYH11 gene at 16p13, whose detection by PCR and fluorescence in situ hybridization (FISH) is useful for diagnosis and monitoring of the disease. Variant translocations of inv(16)/t(16;16) are very rare and whether they are also associated with a favorable prognosis is unknown. We report a patient presenting with typical AML-M4Eo and a three-way translocation of inv(16) involving 16p13, 16q22, and 3q22. FISH studies on bone marrow (BM) chromosomes using CBFB and MYH11 …