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'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...

Unexpected link between cancer and autism

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SHANK regulates adhesion and protrusion in very totally different cell varieties: most cancers cells and neurons. Picture taken by Dr Guillaume Jacquemet reveals the distinct morphologies of neurons and most cancers cells. On the suitable: Main Rat hippocampal neuron stained for actin (inexperienced) Dapi (blue) and MAP2 (purple). On the left a bone most cancers cell stained for Actin (crimson) and paxillin (inexperienced). Credit score: Turku Centre for Biotechnology The researchers from Turku Centre for Biotechnology found an sudden hyperlink between most cancers and autism Researchers from Turku Centre for Biotechnology have noticed protein referred to as SHANK prevents the unfold of breast most cancers cells to the encircling tissue. The SHANK protein has been beforehand studied solely within the central nervous system, and it's recognized that its absence or gene mutations are associated to autism. The analysis was performed at Turku Centre for Biotechnology. ...