Genes, pseudogenes, and Alu sequence organization across human chromosomes 21 and 22

Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2930-5. doi: 10.1073/pnas.052692099. Epub 2002 Feb 26.

Abstract

Human chromosomes 21 and 22 (mainly the q-arms) were the first complete parts of the human genome released. Our analysis of genes, pseudogenes (Psig), and Alu repeats across these chromosomes include the following findings: The number of gene structures containing untranslated exons exceeds 25%; the terminal exon tends to be the largest among exons, whereas, the initial intron tends to be the largest among introns; single-exon gene length is approximately the mean gene exon number times the mean internal exon length; processed Psig lengths are on average approximately the same as single-exon gene length; and the G+C content and length of genes are uncorrelated. The counts and distribution of genes, Psig, and Alu sequences and G+C variation are evaluated with respect to clusters and overdispersions. Other assessments concern comparisons of intergenic lengths, properties of Psig sequences, and correlations between Alu and Psig sequences.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alu Elements*
  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 22*
  • DNA, Intergenic
  • Exons
  • Genes
  • Humans
  • Introns
  • Protein Biosynthesis
  • Pseudogenes*

Substances

  • DNA, Intergenic