Reevaluating Human Gene Annotation: A Second-Generation Analysis of Chromosome 22

Citations Over Time

Abstract

We report a second-generation gene annotation of human chromosome 22. Using expressed sequence databases, comparative sequence analysis, and experimental verification, we have extended genes, fused previously fragmented structures, and identified new genes. The total length in exons of annotation was increased by 74% over our previously published annotation and includes 546 protein-coding genes and 234 pseudogenes. Thirty-two potential protein-coding annotations are partial copies of other genes, and may represent duplications on an evolutionary path to change or loss of function. We also identified 31 non-protein-coding transcripts, including 16 possible antisense RNAs. By extrapolation, we estimate the human genome contains 29,000-36,000 protein-coding genes, 21,300 pseudogenes, and 1500 antisense RNAs. We suggest that our revised annotation criteria provide a paradigm for future annotation of the human genome.

Related Papers

• → Pseudogene-expressed RNAs: a new frontier in cancers(2015)46 cited
• → Ribonuclease H1 Maps to Chromosome 2 and Has at Least Three Pseudogene Loci in the Human Genome(2002)5 cited
• → Iterative gene prediction and pseudogene removal improves genome annotation(2006)75 cited
• → Pseudogene Evolution in the Human Genome(2014)5 cited
• → Pseudogenes and The Electron Transport Chain(2007)