Substack cometh, and lo it is good. (Pricing)

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

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

…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…show signs of positive selection, and are increasingly amplified generally as a function of a species’ evolutionary proximity to humans…DUF1220 domains are highly expressed in brain regions associated with higher cognitive function….

From the conclusion:

The genomic regions that harbor DUF1220 sequences appear to be particularly complex and, as a result, different genome assemblies differ with respect to the predicted number of DUF1220-encoded sequences. However, two recent genome-wide BAC aCGH cross-species studies…independently support the findings reported here that DUF1220-encoding genes show human lineage-specific increases in copy number and appeared with remarkable rapidity. If they indeed are the result of strong positive selection, they may play an important role in human lineage–specific traits….

John Hawks has more.

98% sequence identity with a chimp? Yeah, but we’re all human where it counts baby (no mention of sperm or testes in the paper). Figure below the fold.

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