'Goldilocks' genes that tell the tale of human evolution hold clues to variety of diseases
The geneticists' findings have just been published in the leading international journal, Nature Communications . There are over 20,000 genes in the human genome that contain the all-important codes used to produce specific proteins in the body. In their study, the Trinity geneticists focused on regions of the genome that are duplicated or deleted in some individuals. These regions, termed 'copy number variants' (CNVs), are abundant in humans. Not all CNVs result in noticeable differences between individuals -- sometimes the genes within them function similarly regardless of the number of copies present. However, variations in other CNVs are implicated in a variety of debilitating disorders and diseases. These disease CNVs are large, and a major challenge is to identify which genes within the regions are causing the problems. Professor in Genetics at Trinity, Aoife McLysaght , said: "Our idea was that there must be some genes within these regions with 'Gold...