Functional Characterizations of Genes Embedded within Human Core Duplicons

Summary

Most genes in the human genome are found within the orthologous genomic segments. However, small subsets of gene families such as MORPHEUS, LRRC37 and SPATA31, which have been subjected to a burst of segmental duplications, are found within the paralogous genomic regions in human. These gene families are frequently organized around “core” duplicons that has enriched gene expression, some of which are evolving under positive selection. These genes 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, and are embedded in complex regions where 1:1 sequence alignments have been problematic. Recent studies indicate that these genes are one of the major contributors to genetic variations between human individuals.

The primary objectives of our project are:

• to advance our understanding of certain human conditions such as human specific immune reaction against intracellular pathogens in molecular level.
  
• to provide detailed platform for human genetic variations
• to understand the association and the level of association between human genetic variations and core duplicon gene families
• by understanding the molecular function of human specific genes within these core duplicons, we can better resolve molecular evolutionary mechanims that derive the adaptation of human in different environmental conditions