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To understand whether any human-specific new genes may be associated with human brain functions, we computationally screened the genetic vulnerable factors identified through Genome-Wide Association Studies and linkage analyses of nicotine addiction and found one human-specific  de novo  protein-coding gene,  FLJ33706  (alternative gene symbol  C20orf203 ). Cross-species analysis revealed interesting evolutionary paths of how this gene had originated from noncoding DNA sequences: insertion of repeat elements especially  Alu  contributed to the formation of the first coding exon and six standard splice junctions on the branch leading to humans and chimpanzees, and two subsequent substitutions in the human lineage escaped two stop codons and created an open reading frame of 194 amino acids. We experimentally verified  FLJ33706 's mRNA and protein expression in the brain. Real-Time PCR in multiple tissues demonstrated that  FLJ33706  was most abundantly expressed in brain. Human polymorphism data suggested that  FLJ33706  encodes a protein under purifying selection. A specifically designed antibody detected its protein expression across human cortex, cerebellum and midbrain. Immunohistochemistry study in normal human brain cortex revealed the localization of FLJ33706 protein in neurons. Elevated expressions of FLJ33706 were detected in Alzheimer's brain samples, suggesting the role of this novel gene in human-specific pathogenesis of Alzheimer's disease.  FLJ33706  provided the strongest evidence so far that human-specific  de novo  genes can have protein-coding potential and differential protein expression, and be involved in human brain functions.

A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions