Search results for "Chromosome engineering"
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
2017
Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …
The evolution of human synteny 4 by mapping sub-chromosomal specific probes in Primates
2014
Comparative cytogenetic data concerning the orthologue to human chromosome 4 in primates shows that this chromosome is conserved between humans and non-human primates. However, the degree of conservation is not as high as previously estimated. In primates it is as a rule a large submetacentric chromosome but many exceptions are known especially in taxa characterized by a high level of chromosomal rearrangements. The rearrangements that have been visualized by chromosome painting so far, which are mostly interchromosomal changes, are in fact only a fraction of the actual chromosomal changes that have occurred during evolution. Intrachromosome changes can be analysed through classical cytogen…