نتایج جستجو برای: pericentric inversions
تعداد نتایج: 5238 فیلتر نتایج به سال:
Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis show...
Knowledge about structural variation in the human genome has grown tremendously in the past few years. However, inversions represent a class of structural variation that remains difficult to detect. We present a statistical method to identify large inversion polymorphisms using unusual Linkage Disequilibrium (LD) patterns from high-density SNP data. The method is designed to detect chromosomal ...
Alignments of sequences are widely used for biological sequence comparisons. Only biological events like mutations, insertions and deletions are usually modeled and other biological events like inversions are not automatically detected by the usual alignment algorithms. Alignment with inversions does not have a known polynomial algorithm and a simplification to the problem that considers only n...
Inversions are balanced rearrangements of chromosomes, and the vast majority of paracentric inversions seem to be harmless. The risk of having a phenotypically abnormal child for carriers of paracentric inversions due to the production of unbalanced gametes resulting from recombination during meiotic crossover has been thought to be low. However, a few cases of abnormal offspring due to classic...
In this paper, ray theoretical amplitudes and travel times are calculated in slightly perturbed velocity models using perturbation analysis. Also, test inversions using travel time and amplitude are computed. The perturbation method is tested using a 3-D velocity model for NORSAR having velocity variations up to 8.0 percent. The perturbed amplitudes are found to be in excellent agreement with t...
Trimethylation of lysine 9 on histone H3 (H3K9me3) is known both to be necessary for proper chromosome segregation and to increase in late G2. We investigated the role of late G2 methylation, specifically in mitotic progression, by inhibiting methylation for 2 hours prior to mitosis using the general methylation inhibitor adenosine dialdehyde (AdOx). AdOx inhibits all methylation events within ...
In this study we have taken advantage of recent whole genome sequencing studies that have determined the DNA content in the heterochromatic regions of each Drosophila chromosome to directly correlate the effect on position-effect variegation of a pericentric insertion reporter line, 118E-10 with the total amount of heterochromatic DNA. Heterochromatic DNA levels were manipulated by adding or su...
Suv4-20h2 mediates chromatin compaction and is important for cohesin recruitment to heterochromatin.
Cohesin plays an important role in chromatid cohesion and has additional functions in higher-order chromatin organization and in transcriptional regulation. The binding of cohesin to euchromatic regions is largely mediated by CTCF or the mediator complex. However, it is currently unknown how cohesin is recruited to pericentric heterochromatin in mammalian cells. Here we define the histone methy...
One of the most used techniques to study structural variation at a genome level is paired-end mapping (PEM). PEM has the advantage of being able to detect balanced events, such as inversions and translocations. However, inversions are still quite difficult to predict reliably, especially from high-throughput sequencing data. We simulated realistic PEM experiments with different combinations of ...
Inversion polymorphisms have occupied a privileged place in Drosophila genetic research since their discovery in the 1920s. Indeed, inversions seem to be nearly ubiquitous, and the majority of species that have been thoroughly surveyed have been found to be polymorphic for one or more chromosomal inversions. Despite enduring interest, however, inversions remain difficult to study because their ...
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