Published online 28 April 2005
Article |
Transcribed processed pseudogenes in the human genome: an intermediate form of expressed retrosequence lacking protein-coding ability
Department of Biology, McGill University Stewart Biology Building, 1205 Dr. Penfield Avenue, Montreal, Quebec, Canada H3A 1B1 1Department of Molecular Biophysics and Biochemistry, Yale University New Haven, CT, USA 2Department of Computer Science, Yale University New Haven, CT, USA 3Banting and Best Department of Medical Research, University of Toronto Toronto, Ontario, Canada
*To whom correspondence should be addressed. Tel: +1 514 398 6420; Fax: +1 514 398 5069; Email: paul.harrison{at}mcgill.ca
Received January 19, 2005. Revised March 14, 2005. Accepted April 4, 2005.
Pseudogenes, in the case of protein-coding genes, are gene copies that have lost the ability to code for a protein; they are typically identified through annotation of disabled, decayed or incomplete protein-coding sequences. Processed pseudogenes (P
gs) are made through mRNA retrotransposition. There is overwhelming genomic evidence for thousands of human P
gs and also dozens of human processed genes that comprise complete retrotransposed copies of other genes. Here, we survey for an intermediate entity, the transcribed processed pseudogene (TP
g), which is disabled but nonetheless transcribed. TP
gs may affect expression of paralogous genes, as observed in the case of the mouse makorin1-p1 TP
g. To elucidate their role, we identified human TP
gs by mapping expressed sequences onto P
gs and, reciprocally, extracting TP
gs from known mRNAs. We consider only those P
gs that are homologous to either non-mammalian eukaryotic proteins or protein domains of known structure, and require detection of identical coding-sequence disablements in both the expressed and genomic sequences. Oligonucleotide microarray data provide further expression verification. Overall, we find 166233 TP
gs (
46% of P
gs). Proteins/transcripts with the highest numbers of homologous TP
gs generally have many homologous P
gs and are abundantly expressed. TP
gs are significantly over-represented near both the 5' and 3' ends of genes; this suggests that TP
gs can be formed through genepromoter co-option, or intrusion into untranslated regions. However, roughly half of the TP
gs are located away from genes in the intergenic DNA and thus may be co-opting cryptic promoters of undesignated origin. Furthermore, TP
gs are unlike other P
gs and processed genes in the following ways: (i) they do not show a significant tendency to either deposit on or originate from the X chromosome; (ii) only 5% of human TP
gs have potential orthologs in mouse. This latter finding indicates that the vast majority of TP
gs is lineage specific. This is likely linked to well-documented extensive lineage-specific SINE/LINE activity. The list of TP
gs is available at: http://www.biology.mcgill.ca/faculty/harrison/tppg/bppg.tov (or) http:pseudogene.org.
![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
C. Zou, M. D. Lehti-Shiu, F. Thibaud-Nissen, T. Prakash, C. R. Buell, and S.-H. Shiu Evolutionary and Expression Signatures of Pseudogenes in Arabidopsis and Rice Plant Physiology, September 1, 2009; 151(1): 3 - 15. [Abstract] [Full Text] [PDF] |
||||
![]() |
Z. D. Zhang, P. Cayting, G. Weinstock, and M. Gerstein Analysis of Nuclear Receptor Pseudogenes in Vertebrates: How the Silent Tell Their Stories Mol. Biol. Evol., January 1, 2008; 25(1): 131 - 143. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. V. Babushok, K. Ohshima, E. M. Ostertag, X. Chen, Y. Wang, P. K. Mandal, N. Okada, C. S. Abrams, and H. H. Kazazian Jr. A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids Genome Res., August 1, 2007; 17(8): 1129 - 1138. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. B. Gerstein, C. Bruce, J. S. Rozowsky, D. Zheng, J. Du, J. O. Korbel, O. Emanuelsson, Z. D. Zhang, S. Weissman, and M. Snyder What is a gene, post-ENCODE? History and updated definition Genome Res., June 1, 2007; 17(6): 669 - 681. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. Zheng, A. Frankish, R. Baertsch, P. Kapranov, A. Reymond, S. W. Choo, Y. Lu, F. Denoeud, S. E. Antonarakis, M. Snyder, et al. Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution Genome Res., June 1, 2007; 17(6): 839 - 851. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. O. Sassi, E. L. Braun, and S. A. Benner The Evolution of Seminal Ribonuclease: Pseudogene Reactivation or Multiple Gene Inactivation Events? Mol. Biol. Evol., April 1, 2007; 24(4): 1012 - 1024. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Karro, Y. Yan, D. Zheng, Z. Zhang, N. Carriero, P. Cayting, P. Harrrison, and M. Gerstein Pseudogene.org: a comprehensive database and comparison platform for pseudogene annotation Nucleic Acids Res., January 12, 2007; 35(suppl_1): D55 - D60. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. R. Hoen, K. C. Park, N. Elrouby, Z. Yu, N. Mohabir, R. K. Cowan, and T. E. Bureau Transposon-Mediated Expansion and Diversification of a Family of ULP-like Genes Mol. Biol. Evol., June 1, 2006; 23(6): 1254 - 1268. [Abstract] [Full Text] [PDF] |
||||
![]() |
B. C.K. Wong, K.C. A. Chan, A. T.C. Chan, S.-F. Leung, L. Y.S. Chan, K. C.K. Chow, and Y.M. D. Lo Reduced Plasma RNA Integrity in Nasopharyngeal Carcinoma Patients Clin. Cancer Res., April 15, 2006; 12(8): 2512 - 2516. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Kaneko, I. Aki, K. Tsuda, K. Mekada, K. Moriwaki, N. Takahata, and Y. Satta Origin and Evolution of Processed Pseudogenes That Stabilize Functional Makorin1 mRNAs in Mice, Primates and Other Mammals Genetics, April 1, 2006; 172(4): 2421 - 2429. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. Vinckenbosch, I. Dupanloup, and H. Kaessmann Evolutionary fate of retroposed gene copies in the human genome PNAS, February 28, 2006; 103(9): 3220 - 3225. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. J. Elliman, I. Wu, and D. M. Kemp Adult Tissue-specific Expression of a Dppa3-derived Retrogene Represents a Postnatal Transcript of Pluripotent Cell Origin J. Biol. Chem., January 6, 2006; 281(1): 16 - 19. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. S. Hinrichs, D. Karolchik, R. Baertsch, G. P. Barber, G. Bejerano, H. Clawson, M. Diekhans, T. S. Furey, R. A. Harte, F. Hsu, et al. The UCSC Genome Browser Database: update 2006 Nucleic Acids Res., January 1, 2006; 34(suppl_1): D590 - D598. [Abstract] [Full Text] [PDF] |
||||







