The structure and evolution of centromeric transition regions within the human genome.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: She, Xinwei; Horvath, Julie E; Jiang, Zhaoshi; Liu, Ge; Furey, Terrence S; Christ, Laurie; Clark, Royden; Graves, Tina; Gulden, Cassy L; Alkan, Can; Bailey, Jeff A; Sahinalp, Cenk; Rocchi, Mariano; Haussler, David; Wilson, Richard K; Miller, Webb; Schwartz, Stuart; Eichler, Evan E
Year of Publication: 2004
Journal: Nature
Volume: 430
Issue: 7002
Pagination: 857-64
Date Published: 2004 Aug 19
Publication Language: eng
ISSN: 1476-4687
Keywords: Animals, Base Composition, Centromere, DNA, Euchromatin, Evolution, Molecular, Expressed Sequence Tags, Gene Duplication, Genome, Human, Humans, RNA, Messenger, Transcription, Genetic

An understanding of how centromeric transition regions are organized is a critical aspect of chromosome structure and function; however, the sequence context of these regions has been difficult to resolve on the basis of the draft genome sequence. We present a detailed analysis of the structure and assembly of all human pericentromeric regions (5 megabases). Most chromosome arms (35 out of 43) show a gradient of dwindling transcriptional diversity accompanied by an increasing number of interchromosomal duplications in proximity to the centromere. At least 30% of the centromeric transition region structure originates from euchromatic gene-containing segments of DNA that were duplicatively transposed towards pericentromeric regions at a rate of six-seven events per million years during primate evolution. This process has led to the formation of a minimum of 28 new transcripts by exon exaptation and exon shuffling, many of which are primarily expressed in the testis. The distribution of these duplicated segments is nonrandom among pericentromeric regions, suggesting that some regions have served as preferential acceptors of euchromatic DNA.

DOI: 10.1038/nature02806
Alternate Journal: Nature