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Structural Variation in PWWP Domains
Journal of Molecular Biology, 2003The PWWP domain is a ubiquitous eukaryotic protein module characterised by a region of sequence similarity of approximately 80 amino acids containing a highly conserved PWWP motif. It is frequently found in proteins associated with chromatin. We have determined the structure of a PWWP domain from the S. pombe protein SPBC215.07c using NMR spectroscopy.
Leanne M, Slater +2 more
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Structural variations among the kinesins
Trends in Cell Biology, 1995Members of the kinesin family of motor proteins are assembled from kinesin-related polypeptides that share conserved 'motor' domains linked to diverse 'tail' domains. Recent work suggests that tail diversity underlies the differences in quaternary structure observed among native kinesin holoenzymes.
D G, Cole, J M, Scholey
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Integrated genotyping of structural variation
2013 IEEE Global Conference on Signal and Information Processing, 2013Discovering genotype of structural variations (SV) is a new and challenging topic. To the best of our knowledge, estimation of variant allele frequency (VAF) of an SV from both read depth and read alignment has not been done. In this study, we propose BreakDown, a new statistical model that integrates read depth, discordant and split paired-end read ...
Xian Fan, Luay Nakhleh, Ken Chen 0001
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Structural Variation in the Human Genome
New England Journal of Medicine, 2007The human genome has many large expansions and contractions. These affect gene dosage and may affect susceptibility to disease.
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Structural variation in the human genome
Nature Reviews Genetics, 2006The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome.
Lars, Feuk +2 more
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Structural Genomic Variation and Personalized Medicine
New England Journal of Medicine, 2008Large-scale genomic deletions, duplications, and inversions represent a major source of variation among persons; thus, new approaches to probing disease susceptibility are warranted.
Lee, Charles +1 more
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Variation of a Complex Structure in a Point
American Journal of Mathematics, 1968We shall consider the following problem: given a topological space E, a point e0 of E, and a complex structure on E\{eo}, which can be extended to a complex structure on E, describe the totality of these complex structures on E. It will turn out that this set is, in a canonical way, a complex space, which we shall describe in an axiomatic way.
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Structural Chromosomal Variations in Neurological Diseases
The Neurologist, 2009Significant advancement in the identification of genetic mutations and molecular pathways underlying Mendelian neurologic disorders was accomplished by using the methods of linkage, gene cloning, sequencing, mutation, and functional analyses, in the 1990s.
Kalman B, Vitale E
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Structural Variation In Mitochondrial Dna
1984Publisher Summary This chapter reviews the structural diversity of mitochondrial chromosomes, particularly the variations of size and structure resulting from rearrangements in mitochondrial DNA (mtDNA). The observed diversity reflects both functional constraints and mechanisms of genetic variation that underlie the divergent paths taken by these ...
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The landscape of genomic structural variation in Indigenous Australians
Nature, 2023Misty Rayna Jenkins +2 more
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