Human Core Duplicons:
Human Specific Gene Families Involved in Immune Function and Turkish (Anatolian) Genome Project
Most genes in the human genome are found within the orthologous genomic segments. However, there are gene families, which have been subjected to a burst of segmental duplications, are found within the paralogous genomic regions. Small subset of these gene families are organized around “core” or “seed” duplicons that has enriched gene expression in human, some of which are evolving under positive selection. These gene families are different from classical gene families and share some common characteristics. They are embedded within the core duplicons, and have not been properly studied or annotated because orthologs do not exist in out-group species (e.g. mouse), and are embedded in complex regions where 1:1 sequence alignments have been problematic. Most of these gene families show different expression pattern when compared to ancestral gene locus. Recent studies indicate that these genes are one of the major contributors to genetic variations between human individuals. Therefore, we propose that these genes represent novel gene families that confer selective advantage in human evolution and are important for human specific diseases. Our aim is to identify and functionally characterize newly evolved genes that are embedded within human core duplicons.
Comparative genomics and the functional analysis of duplicated human specific gene families, Morpheus and LRRc37A will be presented. We will give short introduction to Turkish Genome Project (TGP), and also, the impact of the diversity and functional properties of these segmental duplicated genes to human health from the aspect of personal genomics will be discussed.