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Background  Brain-expressed genes that were created in primate lineage represent obvious candidates to investigate molecular mechanisms that contributed to neural reorganization and emergence of new behavioural functions in  Homo sapiens .  PMCHL1  arose from retroposition of a pro-melanin-concentrating hormone ( PMCH ) antisense mRNA on the ancestral human chromosome 5p14 when platyrrhines and catarrhines diverged. Mutations before divergence of hylobatidae led to creation of new exons and finally  PMCHL1  duplicated in an ancestor of hominids to generate  PMCHL2  at the human chromosome 5q13. A complex pattern of spliced and unspliced  PMCHL  RNAs were found in human brain and testis.    Results  Several novel spliced  PMCHL  transcripts have been characterized in human testis and fetal brain, identifying an additional exon and novel splice sites. Sequencing of  PMCHL  genes in several non-human primates allowed to carry out phylogenetic analyses revealing that the initial retroposition event took place within an intron of the  brain cadherin  ( CDH12 ) gene, soon after platyrrhine/catarrhine divergence, i.e. 30–35 Mya, and was concomitant with the insertion of an AluSg element. Sequence analysis of the spliced  PMCHL  transcripts identified only short ORFs of less than 300 bp, with low (VMCH-p8 and protein variants) or no evolutionary conservation. Western blot analyses of human and macaque tissues expressing  PMCHL  RNA failed to reveal any protein corresponding to VMCH-p8 and protein variants encoded by spliced transcripts.    Conclusion  Our present results improve our knowledge of the gene structure and the evolutionary history of the primate-specific chimeric  PMCHL  genes. These genes produce multiple spliced transcripts, bearing short, non-conserved and apparently non-translated ORFs that may function as mRNA-like non-coding RNAs.

Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues