Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Popesco, Magdalena C; Maclaren, Erik J; Hopkins, Janet; Dumas, Laura; Cox, Michael; Meltesen, Lynne; McGavran, Loris; Wyckoff, Gerald J; Sikela, James M
Year of Publication: 2006
Journal: Science
Volume: 313
Issue: 5791
Pagination: 1304-7
Date Published: 2006 Sep 1
Publication Language: eng
ISSN: 1095-9203
Keywords: Amino Acid Sequence, Animals, Biological Evolution, Brain, Cognition, Exons, Gene Amplification, Gene Dosage, Gene Duplication, Gene Expression, Genome, Human, Humans, Macaca mulatta, Mice, Molecular Sequence Data, Neocortex, Neurons, Pan troglodytes, Phylogeny, Polymerase Chain Reaction, Protein Structure, Tertiary, Proteins, Rats, Selection, Genetic

Extreme gene duplication is a major source of evolutionary novelty. A genome-wide survey of gene copy number variation among human and great ape lineages revealed that the most striking human lineage-specific amplification was due to an unknown gene, MGC8902, which is predicted to encode multiple copies of a protein domain of unknown function (DUF1220). Sequences encoding these domains are virtually all primate-specific, show signs of positive selection, and are increasingly amplified generally as a function of a species' evolutionary proximity to humans, where the greatest number of copies (212) is found. DUF1220 domains are highly expressed in brain regions associated with higher cognitive function, and in brain show neuron-specific expression preferentially in cell bodies and dendrites.

DOI: 10.1126/science.1127980
Alternate Journal: Science