Human core duplicon gene families: game changers or game players?

Bekpen, Cemalettin; Tautz, Diethard

Evolution and comparative genomics SPATA31 (formerly known as FAM75A) genes expanded from a single copy in mouse to two copies in macaque and at least nine copies on human chromosome 9 by segmental duplication. Seven of these duplicated SPATA31 gene segments are distributed on the long arm, and at least two are in tandem on the short arm. Two copies on the long arm are considered pseudogenes due to premature stop codons [18] . During the process of duplication within the primate lineage, the 5 -region of SPATA31 genes acquired an additional exon and additional protein domains, in particular a cryptochrome domain [18] . Similar to other core duplicon gene families, the SPATA31 promoter region became highly restructured before or during the duplication events. This restructuring includes the integration of a transposable element (LINE/L1, PA10-12) after the split between simians and prosimians [18] .