An evolutionary driver of interspersed segmental duplications in primates
نویسندگان
چکیده
منابع مشابه
Recent segmental duplications in the human genome.
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun s...
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MOTIVATION Segmental duplications are common in mammalian genomes, but their evolutionary origins remain mysterious. A major difficulty in analyzing segmental duplications is that many duplications are complex mosaics of fragments of numerous other segmental duplications. RESULTS We introduce a novel measure called duplication distance that describes the minimum number of duplications necessa...
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Duplicated sequences are substrates for the emergence of new genes and are an important source of genetic instability associated with rare and common disease. Analyses of primate genomes have shown an increase in the proportion of interspersed segmental duplications within the genomes of humans and great apes. This is in contrast to other mammalian genomes that appear to have their recently dup...
متن کاملComparing genomes with rearrangements and segmental duplications
MOTIVATION Large-scale evolutionary events such as genomic rearrange.ments and segmental duplications form an important part of the evolution of genomes and are widely studied from both biological and computational perspectives. A basic computational problem is to infer these events in the evolutionary history for given modern genomes, a task for which many algorithms have been proposed under v...
متن کاملSignals of Historical Interlocus Gene Conversion in Human Segmental Duplications
Standard methods of DNA sequence analysis assume that sequences evolve independently, yet this assumption may not be appropriate for segmental duplications that exchange variants via interlocus gene conversion (IGC). Here, we use high quality multiple sequence alignments from well-annotated segmental duplications to systematically identify IGC signals in the human reference genome. Our analysis...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2020
ISSN: 1474-760X
DOI: 10.1186/s13059-020-02074-4