Novel insights into the evolution and variation of sequences encoding DUF1220 protein domains
Sequences encoding DUF1220 protein domains have undergone an extreme increase in copy number specifically in the human lineage and the copy number of these sequences has been associated with several brain-related phenotypes that suggest a potential role in the evolution of human specific cognitive ability. Variations in the copy number of these sequences have also been associated with symptom severity in autism and schizophrenia, suggesting that these sequences can be associated with both beneficial and deleterious phenotypes. The copy number of these sequences is difficult to measure and many ...
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