Benjamin de Haas explains individual differences in eye movement patterns.
New Research In
Physical Sciences
Featured Portals
Articles by Topic
Biological Sciences
Featured Portals
Articles by Topic
-
Contributed by Eric S. Lander, October 3, 2007 (received for review August 1, 2007)
Abstract
Although the Human Genome Project was completed 4 years ago, the catalog of human protein-coding genes remains a matter of controversy. Current catalogs list a total of ≈24,500 putative protein-coding genes. It is broadly suspected that a large fraction of these entries are functionally meaningless ORFs present by chance in RNA transcripts, because they show no evidence of evolutionary conservation with mouse or dog. However, there is currently no scientific justification for excluding ORFs simply because they fail to show evolutionary conservation: the alternative hypothesis is that most of these ORFs are actually valid human genes that reflect gene innovation in the primate lineage or gene loss in the other lineages. Here, we reject this hypothesis by carefully analyzing the nonconserved ORFs—specifically, their properties in other primates. We show that the vast majority of these ORFs are random occurrences. The analysis yields, as a by-product, a major revision of the current human catalogs, cutting the number of protein-coding genes to ≈20,500. Specifically, it suggests that nonconserved ORFs should be added to the human gene catalog only if there is clear evidence of an encoded protein. It also provides a principled methodology for evaluating future proposed additions to the human gene catalog. Finally, the results indicate that there has been relatively little true innovation in mammalian protein-coding genes.
Footnotes
- †To whom correspondence may be addressed. E-mail: mclamp{at}broad.mit.edu or lander{at}broad.mit.edu
-
Author contributions: M.C. and E.S.L. designed research; M.C., B.F., M. Kamal, X.X., J.C., M.F.L., M. Kellis, K.L.-T., and E.S.L. performed research; M.C., B.F., M. Kamal, X.X., J.C., M.F.L., M. Kellis, K.L.-T., and E.S.L. analyzed data; and M.C. and E.S.L. wrote the paper.
-
The authors declare no conflict of interest.
-
This article contains supporting information online at www.pnas.org/cgi/content/full/0709013104/DC1.
- © 2007 by The National Academy of Sciences of the USA
References
Distinguishing protein-coding and noncoding genes in the human genome
Sign up for Article Alerts
Jump to section
You May Also be Interested in
The distant rock has offered clues about planet formation and the state of the early solar system.
Image credit: Wikimedia Commons/NASA/Johns Hopkins University Applied Physics Laboratory/Southwest Research Institute/ESA.
Researchers report negative emotional contagion, or the coordination of emotional states between multiple individuals, in common ravens, suggesting convergent emotional evolution in birds and mammals.
Image courtesy of Jessie E. C. Adriaense.
A study examines trends in global fishing fleets and finds that by 2015, 68% of the global fishing fleet became motorized, and that the overall number of fleet vessels increased to 3.7 million, despite a consistent decrease in the catch per unit of effort.
Image courtesy of Pixabay/3282700.
A method to determine gender from fingerprints suggests pottery making was not a primarily female activity in ancient Puebloan society, challenging previous assumptions about gendered divisions of labor in ancient societies.
Image courtesy of John Kantner.