학술논문

DNA sequence and analysis of human chromosome 9.
Document Type
Article
Source
Nature. 5/27/2004, Vol. 429 Issue 6990, p369-374. 6p.
Subject
*HUMAN chromosomes
*HUMAN genetics
*NUCLEOTIDE sequence
*HETEROCHROMATIN
*INTERFERONS
*HUMAN genome
Language
ISSN
0028-0836
Abstract
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection. [ABSTRACT FROM AUTHOR]