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• W2108963330 abstract "Assuming that patterns of sequence variants within highly homogeneous centromeric tandem repeat arrays can tell us which molecular turnover mechanisms are presently at work, we analyzed the alpha-satellite tandem repeat array DXZ1 of one human X chromosome. Here we present accurate snapshots from this dark matter of the genome. We demonstrate stable and representative cloning of the array in a P1 artificial chromosome (PAC) library, use samples of higher-order repeats subcloned from five unmapped PACs (120-160 kb) to identify common variants, and show that such variants are presently in a fixed transition state. To characterize patterns of variant spread throughout homogeneous array segments, we use a novel partial restriction and pulsed-field gel electrophoresis mapping approach. We find an older large-scale (35-50 kb) duplication event supporting the evolutionarily important unequal crossing-over hypothesis, but generally find independent variant occurrence and a paucity of potential de novo mutations within segments of highest homogeneity (99.1%-99.3%). Within such segments, a highly nonrandom variant clustering within adjacent higher-order repeats was found in the absence of haplotypic repeats. Such variant clusters are hardly explained by interchromosomal, fixation-driving mechanisms and likely reflect a fast, localized, intrachromosomal sequence conversion mechanism." @default.
• W2108963330 created "2016-06-24" @default.
• W2108963330 creator A5036130819 @default.
• W2108963330 creator A5039848015 @default.
• W2108963330 date "2002-12-01" @default.
• W2108963330 modified "2023-10-14" @default.
• W2108963330 title "Evidence for a Fast, Intrachromosomal Conversion Mechanism From Mapping of Nucleotide Variants Within a Homogeneous α-Satellite DNA Array" @default.
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• W2108963330 doi "https://doi.org/10.1101/gr.451502" @default.
• W2108963330 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/187568" @default.
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• W2108963330 hasPublicationYear "2002" @default.
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