Sequence Organization and Functional Annotation of Human Centromeres
This extract was created in the absence of an abstract.
Excerpt
With the near completion of the archival humangenome sequence, attention has turned to defining the attributes of the sequence that are responsible for its manyfunctions, including determination of gene content, functional identification of both short- and long-range regulatory sequences, and characterization of structural elements of the genome responsible for maintaining genomestability and integrity (Collins et al. 2003). In addition,the task remains to close the several hundred gaps thatdisrupt the landscape of an otherwise contiguous sequence for each of the 24 human chromosomes. Thelargest of these gaps correspond to regions of known orpresumed heterochromatin at or near the centromeres ofeach chromosome, regions that were largely excludedfrom both the public (Lander et al. 2001) and private(Venter et al. 2001) sequencing efforts due in part to theirhighly repetitive DNA content. Although there are several large regions of noncentromeric heterochromatin inthe human karyotype (Trask 2002), the repetitive DNAassociated with the primary constriction of each chromosome has been strongly implicated in centromere function (Willard 1998; Lamb and Birchler 2003) and thus remains to be fully characterized at the genomic andfunctional levels...
