Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22.

ABSTRACT: We have developed an initial approach for annotating and surveying pseudogenes in the human genome. We search human genomic DNA for regions that are similar to known protein sequences and contain obvious disablements (i.e., mid-sequence stop codons or frameshifts), while ensuring minimal overlap with annotations of known genes. Pseudogenes can be divided into "processed" and "nonprocessed"; the former are reverse transcribed from mRNA (and therefore have no intron structure), whereas the latter presumably arise from genomic duplications. We annotate putative processed pseudogenes based on whether there is a continuous span of homology that is >70% of the length of the closest matching human protein (i.e., with introns removed), or whether there is evidence of polyadenylation. We have appli

SUBMITTER: Harrison PM 

PROVIDER: S-EPMC155275 | biostudies-literature | 2002 Feb

REPOSITORIES: biostudies-literature