Newswise — The human genome consists of around 3 billion base pairs and humans are all 99.6% identical in their genetic makeup. That small 0.
4% accounts for any difference between one person and another. Specific combinations of mutations in those base pairs hold important clues about the causes of complex health issues, including heart disease and neurodegenerative diseases like schizophrenia. Current methods to model or correct mutations in live cells are inefficient, especially when multiplexing — installing multiple point mutations simultaneously across the genome.
Researchers from the University of California San Diego have developed new, efficient genome editing tools called multiplexed orthogonal base editors (MOBEs) to install multiple point mutations at once. Their work, led by Assistant Professor of Chemistry and Biochemistry Alexis Komor’s lab , appears in Nature Biotechnology . Komor’s team was especially interested in comparing genomes that differ at a single letter change in the DNA.
Those letters — C (cytosine), T (thymine), G (guanine), A (adenosine) – are known as bases. Where one person has a C base, another person might have a T base. These are single nucleotide variants (SNVs) or single point mutations, a person might have 4-5 million variants.
Some variants are harmless; some are harmful; and often it is a combination of variants that confers disease. One issue with using the genome in disease modeling is the sheer number of possible variation.
