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Science 1 September 2006:
Vol. 313. no. 5791, pp. 1304 - 1307
DOI: 10.1126/science.1127980
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Reports

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

Magdalena C. Popesco,1,2,3* Erik J. MacLaren,1,2,3*{dagger} Janet Hopkins,1,2,3 Laura Dumas,1,3 Michael Cox,1,2,3 Lynne Meltesen,1,4 Loris McGavran,1,4 Gerald J. Wyckoff,5 James M. Sikela1,2,3{ddagger}

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.

1 Human Medical Genetics, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA.
2 Neuroscience Programs, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA.
3 Department of Pharmacology, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA.
4 Department of Pathology, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045, USA.
5 Division of Molecular Biology and Biochemistry, University of Missouri, Kansas City, MO 64110, USA.

* These authors contributed equally to this work.

{dagger} Present address: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

{ddagger} To whom correspondence should be addressed. E-mail: james.sikela{at}uchsc.edu

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