Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions
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...
متن کاملInterchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.
Basic medical research critically depends on the finished human genome sequence. Two types of gaps are known to exist in the human genome: those associated with heterochromatic sequences and those embedded within euchromatin. We identified and analyzed a euchromatic island within the pericentromeric repeats of the human Y chromosome. This 450-kb island, although not recalcitrant to subcloning a...
متن کاملChromosomal duplications along the Y-chromosome and their potential impact on Y-STR interpretation.
Y-chromosome short tandem repeat (Y-STR) markers are being used as potential tools for distinguishing low levels of male DNA in the presence of excess female DNA as is present in many sexual assault samples. Usually single copy Y-STR loci produce a single amplicon in single source samples, and thus the observation of multiple peaks at such a locus could suggest to an analyst that a mixture of m...
متن کاملA Parsimony Approach to Analysis of Human Segmental Duplications
Segmental duplications are abundant in the human genome, but their evolutionary history is not well-understood. The mystery surrounding them is due in part to their complex organization; many segmental duplications are mosaic patterns of smaller repeated segments, or duplicons. A two-step model of duplication has been proposed to explain these mosaic patterns. In this model, duplicons are copie...
متن کاملParsimony and likelihood reconstruction of human segmental duplications
MOTIVATION Segmental duplications > 1 kb in length with >or= 90% sequence identity between copies comprise nearly 5% of the human genome. They are frequently found in large, contiguous regions known as duplication blocks that can contain mosaic patterns of thousands of segmental duplications. Reconstructing the evolutionary history of these complex genomic regions is a non-trivial, but importan...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2008
ISSN: 1088-9051
DOI: 10.1101/gr.076711.108