Human-specific genes may offer a unique window into human cell signaling.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Stahl, Philip D; Wainszelbaum, Marisa J
Year of Publication: 2009
Journal: Sci Signal
Volume: 2
Issue: 89
Pagination: pe59
Date Published: 2009
Publication Language: eng
ISSN: 1937-9145
Keywords: Animals, Biological Evolution, GTPase-Activating Proteins, Hominidae, Humans, Models, Genetic, Oncogene Proteins, Proto-Oncogene Proteins, Receptors, Growth Factor, Signal Transduction, Species Specificity

The identification and characterization of human-specific genes and the cellular processes that the encoded proteins control have the potential to help us understand at the molecular level what makes humans different from other species. The sequencing of the human genome and the genomes of closely related primates has revealed the presence of a small number of human- or human-lineage-specific genes that have no orthologs in lower species. Human-specific and human-lineage-specific genes are likely to function as regulators of cell signaling events, and by fine-tuning pathways, the encoded proteins may contribute to human-specific characteristics and behaviors. In addition, human-specific genes may represent biomarkers for examining human-specific characteristics of various diseases. Investigation of the gene encoding TBC1D3 is one example of a search that may lead to understanding the evolution and the function of human-specific genes, because it is absent in lower species and present in high copy number in the human genome.

DOI: 10.1126/scisignal.289pe59
Alternate Journal: Sci Signal