The structure and evolution of centromeric transition regions within the human genome.
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.
Department of Genetics, Center for Computational Genomics and the Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
Xinwei
X
She
Julie E
JE
Horvath
Zhaoshi
Z
Jiang
Ge
G
Liu
Terrence S
TS
Furey
Laurie
L
Christ
Royden
R
Clark
Tina
T
Graves
Cassy L
CL
Gulden
Can
C
Alkan
Jeff A
JA
Bailey
Cenk
C
Sahinalp
Mariano
M
Rocchi
David
D
Haussler
Richard K
RK
Wilson
Webb
W
Miller
Stuart
S
Schwartz
Evan E
EE
Eichler
D000818:Animals; D001482:Base Composition; D002503:Centromere / Q000737:chemistry* / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D022041:Euchromatin / Q000737:chemistry / Q000235:genetics; D019143:Evolution, Molecular; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
D022041:Euchromatin; D012333:RNA, Messenger; D004247:DNA