Human Structural Variation: Mechanisms of Chromosome Rearrangements
نویسندگان
چکیده
منابع مشابه
Mechanisms for human genomic rearrangements
Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually visible microscopically by chromosome studies. Human diseases that result from genomic rearrangements have been called genomic disorders. Three major mechanisms have been proposed for geno...
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Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are apparently acquired in one single catastrophic event, was described in multiple cancers. Here, we show that constitutionally acquired CGRs share similarities...
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Different ploidy levels, diploid (2n=2x=24) to hexaploid (2n=6x=72) have been reported for Acorus calamus, a perennial medicinal plant. According to available information, there is a significant relationship between the ploidy level and essential oil compositions and medicinal properties of this important genetic resource. However, there is no information about the chromosome number of A. calam...
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A method for selecting unlinked duplications of a part of the X chromosome of C. elegans is described. Five such duplications have been identified. One of them, Dp (X;V)1, is translocated to linkage group V, where it suppresses crossing over along the left half of linkage group V. Dp(X;V)1 homozygotes grow slowly and are sterile. The other four duplications are associated with chromosome fragme...
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ژورنال
عنوان ژورنال: Trends in Genetics
سال: 2015
ISSN: 0168-9525
DOI: 10.1016/j.tig.2015.05.010