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12 lut 2010 · An illustrative example is inv(10)(q11.22q21.1), a 12 Mb inversion with a carrier frequency of 0.11% in the Swedish population, but with no consistent phenotype . Breakpoint and haplotype analysis indicated that this is a rare variant in the population, originating from a single founder event.
28 wrz 2010 · Inversions are a diverse class of chromsomal mutation. The majority are small (<1KB) . Others, for example the famous 3RP inversion of Drosophila melanogaster, are several megabases in size, include several percent of the entire genome and span hundreds or thousands of genes .
Inversions are structural mutations that reverse the sequence of a chromosome segment and reduce the effective rate of recombination in the heterozygous state. They play a major role in adaptation, as well as in other evolutionary processes such as speciation.
A clear sign that inversions are involved in adaptation comes from geographical variation in their frequency. A dramatic example is the inversion 3RP in Drosophila melanogaster, which has established parallel latitudinal clines on three continents .
9 lut 2022 · Familial inversions accounted for nearly 90% of cases, and de novo mutation was identified in two pericentric and two paracentric cases.
17 wrz 2019 · One particularly interesting example is HsInv0201, an old inversion (>1.5 Mya) with intermediate frequency around the globe and clear signals of balancing selection (Fig. 6a), which deletes an ...
20 maj 2015 · Second, inversions have a role as disease-causing mutations both by directly affecting gene structure or regulation in different ways, and by predisposing to other secondary arrangements in the offspring of inversion carriers.
