Human Lineage-Specific Amplification, Selection, and Neuronal Expression of DUF1220 Domains

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 co...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2006-09, Vol.313 (5791), p.1304-1307
Main Authors: Popesco, Magdalena C, MacLaren, Erik J, Hopkins, Janet, Dumas, Laura, Cox, Michael, Meltesen, Lynne, McGavran, Loris, Wyckoff, Gerald J, Sikela, James M
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Antibodies
Biological and medical sciences
Biological Evolution
Brain
Brain - metabolism
Cognition
Complementary DNA
Evolution
Exons
Fundamental and applied biological sciences. Psychology
Gene Amplification
Gene Dosage
Gene Duplication
Gene Expression
Genes
Genome, Human
Genomes
Genomics
Human genome
Humans
Macaca mulatta - genetics
Mice
Molecular Sequence Data
Neocortex - metabolism
Neurons
Neurons - metabolism
Pan troglodytes - genetics
Phylogeny
Polymerase Chain Reaction
Positive selection
Primates
Protein Structure, Tertiary
Proteins
Proteins - chemistry
Proteins - genetics
Rats
Selection, Genetic
Stereotypes
Vertebrates: nervous system and sense organs
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Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1127980