PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Structural variation”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed2026

Cerebral Cortical Structural Variation and General Cognitive Ability: Evidence From Mendelian Randomization.

Understanding the cortical architecture underlying individual differences in general cognitive ability (GCA) remains a central question in cognitive neuroscience. Prior work has established associations between global brain size and GCA, yet the regional effects and directionality of these relationships remain debated. Using a genetically informed cortical parcellation in 11,289 UK Biobank participants, we examined associations between cortical surface area (SA), cortical thickness (CT), and GCA measured via verbal-numerical reasoning. Total SA showed a robust positive association with GCA. At the regional level, dorsolateral prefrontal and superior temporal SA exhibited the strongest positive associations, which persisted after adjustment for global SA. In contrast, CT showed comparatively modest associations. Using Mendelian randomization (MR) with genome-wide significant genetic instruments, we observed evidence consistent with a bidirectional relationship between total SA and GCA. At the regional level, dorsolateral prefrontal and temporal SA demonstrated evidence of MR-inferred directional effects on GCA, while GCA showed evidence of MR-inferred directional effects on total SA and perisylvian thickness. These findings support a polyregional SA architecture underlying GCA, with prominent contributions from prefrontal and temporal association cortices. Our results refine global brain-GCA models and highlight the value of genetically informed parcellation for identifying regional cortical contributions.

Humans↗
PubMed1996

Observation of structural variation and spin state conversion of cytochrome P450 CYP2B4 on binding of sterically different substrates.

Addition of sterically different substrates to CYP2B4 suggests perturbation of the environment of the haem ring and differing degrees of 6cls-5chs conversion. Strain on the ring, by implication induced by changes in the surrounding protein environment, is demonstrated by the emergence of the v29 band upon laurate binding. Furthermore, intensity differences and frequency shifts for non-Raman active (Eu) modes appear to be substrate dependent and are sensitive to haem/substrate interactions. The likelihood is that substrate induced distortion of the haem will have an effect on catalytic activities and attention needs to be directed towards substrate pocket interactions. SERRS (Surface enhanced resonance Raman scattering) provides a unique and sensitive spectroscopic probe of these interactions.

Animals↗
PubMed1987

Radial-maze performance and structural variation of the hippocampus in mice: a correlation with mossy fibre distribution.

Twenty-four male mice, belonging to 8 different inbred strains, were tested in an 8-arm radial maze. Clear strain differences were found for performance on the third day of training, which correlated very strongly with the size of the hippocampal intra- and infrapy ramidal mossy fibre (iip-MF) terminal fields. These results, combined with those from earlier experiments, indicate that genetic variations of the iip-MF projection influence processes that determine behavioural abilities of mice.

Animals↗
PubMed1984

DNAase I hypersensitive sites may be correlated with genomic regions of large structural variation.

Helical-twist, roll and torsion-angle variations calculated by the Calladine (1982)-Dickerson (1983) rules were scanned along several nucleotide sequences for which DNAase I cleavage data are available. It has been shown that for short synthetic oligomers DNAase I cuts preferentially at positions of high helical twist (Dickerson & Drew, 1981; Lomonossoff et al., 1981). Our calculations indicate that DNAase I sensitive and hypersensitive sites in chromatin are correlated with regions of successive, large, helical-twist angle variations from regular B-DNA. In many cases these regions exhibit large variations in base-pair roll and backbone torsion angles as well. It has been suggested that DNAase I cuts in the vicinity of cruciforms. However, it was recently demonstrated by Courey & Wang (1983) and Gellert et al. (1983) that such cruciform formation in a negatively supercoiled DNA is kinetically forbidden under physiological conditions. We thus propose that clustering of large twist-angle (and/or roll and backbone torsion angle) variations may be among the conformational features recognized by the enzyme. Specific cuts can then preferentially occur at base-pair steps with high helical twists.

Animals↗
PubMed1990

Structural variation occurring in the hemagglutinin of influenza virus A/turkey/Oregon/71 during adaptation to different cell types.

The influenza virus A/turkey/Oregon/71 (H7N3) has been adapted to grow in MDCK or chicken embryo cells (CEC) in the absence of trypsin. Changes occurred in the biological properties of the virus variants selected, depending on the cell type used for adaptation. They coincided with enhanced hemagglutinin (HA) activation by intracellular proteolytic cleavage. In the case of MDCK cell selected variants growth, plaque formation, and HA cleavability were restricted to this cell type, whereas the CEC-derived variants displayed altered activities in a broad range of host cells. Unlike the wild-type virus and its MDCK cell-derived variants, CEC variants had acquired pathogenic properties for chickens. By nucleotide sequence analysis of the HA genes of the MDCK cell variants several point mutations were found, which were localized predominantly at the distal, globular part of the HA molecule. The mechanism by which these point mutations increased HA cleavability has not been defined. In the CEC-derived variants besides point mutations, an insertion of 54 nucleotides adjacent to the cleavage site was observed, which corresponds in its sequence to a region in the 28 S ribosomal RNA. This insertion is probably responsible for the altered cleavability of the CEC variants' HA, leading to increased growth potential and pathogenicity.

Adaptation, Physiological↗
PubMed1991

Structural variation of La Crosse virions under different chemical and physical conditions.

La Crosse (LAC) virions exposed to different pHs (7.3, 6.2, and 5.4) and temperatures (37 degrees, 20 degrees, and 4 degrees) were preserved in thin layers of vitreous ice and observed by electron cryomicroscopy. Our results indicate that, at lower pH, virus particles interact with each other to form aggregates. In some cases, particles could be interpreted to have fused together. At neutral pH and higher temperatures morphological changes consistent with deformation in some particles were observed. We suggest that low pH conditions are sufficient for membrane fusion events to occur with LAC virions.

Animals↗
PubMed1982

Cloning and sequence analysis reveal structural variation among related zein genes in maize.

We have isolated a gene encoding one of the 19,000 dalton zein proteins from a maize genomic library constructed in Charon 4A. This gene occurs on a 7.7 kb Eco RI fragment, and based on Southern hybridization analysis, represents one of several homologous sequences present in the maize genome. The nucleotide sequence of the gene predicts a protein composed of 235 amino acids, including a signal peptide of 21 amino acids. There are no intervening sequences in the gene. By comparing the nucleotide sequence of this gene with that of a homologous cDNA clone, we have identified a basis for microheterogeneity within the gene family. The 5' nucleotide sequences of the genomic and cDNA clones are identical, but they differ in the center of the protein, where repeated amino acid sequences occur. A nucleotide sequence encoding a conserved peptide of 20 amino acids is repeated nine times in the center of both of these clones.

Base Sequence↗
PubMed1995

Correlations between radial-maze learning and structural variations of septum and hippocampus in rodents.

Large, but non-pathological, individual differences in neuroanatomy of the brain exist in rodents, which have been shown to covary with behavioral traits. In the present review, we explore the relationship between variations in the extent of the intra- and infrapyramidal mossy fiber projection of the hippocampus and spatial and non-spatial learning capacities in mice and rats. Preliminary data concerning anatomical variation in the septo-hippocampal cholinergic system and its consequences for individual behavior are also presented. We conclude that the hippocampal intra- and infrapyramidal mossy fiber projection is intimately involved in the regulation of spatial, but not of non-spatial learning capabilities. Although lesion studies have shown that a well-functioning cholinergic system is a prerequisite for performance in spatial learning tasks, our preliminary data suggest that individual differences in the cholinergic system do not explain individual differences in learning.

Animals↗