A pipeline for complete characterization of complex germline rearrangements from long DNA reads
Genome Medicine, 2020 Background Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints.
Satomi Mitsuhashi +4 more
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Insights into the origin of the high variability of multivalent-meiotic associations in holocentric chromosomes of Tityus (Archaeotityus) scorpions. [PDF]
PLoS ONE, 2018 Scorpions represent an intriguing group of animals characterized by a high incidence of heterozygous chromosomal rearrangements. In this work, we examined six species of Tityus (Archaeotityus) from Brazilian fauna with a particular focus on elucidating ...
Viviane Fagundes Mattos +3 more
doaj +1 more source
DNA topoisomerases participate in fragility of the oncogene RET [PDF]
, 2013 Fragile site breakage was previously shown to result in rearrangement of the RET oncogene, resembling the rearrangements found in thyroid cancer. Common fragile sites are specific regions of the genome with a high susceptibility to DNA breakage under ...
A Ganguly +86 more
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BMC Microbiology, 2010 Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as ...
Wen Ying +5 more
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Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization [PDF]
, 1990 A new strategy for analyzing chromosomal evolution in primates is presented using chromosomal in situ suppression (CISS) hybridization. Biotin-labeled DNA libraries from flow-sorted human chromosomes are hybridized to chromosome preparations of ...
Anna Jauch +22 more
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Chromosomal control of pig populations in France: 2002-2006 survey [PDF]
, 2007 The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
Berland, Hélène-Marie +8 more
core +4 more sources
Engineering chromosome rearrangements in cancer [PDF]
Disease Models & Mechanisms, 2021 ABSTRACT The identification of large chromosomal rearrangements in cancers has multiplied exponentially over the last decade. These complex and often rare genomic events have traditionally been challenging to study, in part owing to lack of tools that efficiently engineer disease-associated inversions, deletions and translocations in ...
Salvador Alonso, Lukas E. Dow
openaire +3 more sources
Micronuclei-based model system reveals functional consequences of chromothripsis in human cells
eLife, 2019 Cancer cells often harbor chromosomes in abnormal numbers and with aberrant structure. The consequences of these chromosomal aberrations are difficult to study in cancer, and therefore several model systems have been developed in recent years.
Maja Kneissig +13 more
doaj +1 more source
Genome architecture is a selectable trait that can be maintained by antagonistic pleiotropy [PDF]
, 2013 Chromosomal rearrangements are mutations contributing to both within and between species variation; however their contribution to fitness is yet to be measured.
Godinho Ferreira, Miguel +3 more
core +1 more source
Chromosomal rearrangements formed by rrn recombination do not improve replichore balance in host-specific Salmonella enterica serovars. [PDF]
PLoS ONE, 2010 Most of the ∼2,600 serovars of Salmonella enterica have a broad host range as well as a conserved gene order. In contrast, some Salmonella serovars are host-specific and frequently exhibit large chromosomal rearrangements from recombination between rrn ...
T David Matthews +2 more
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