We know that genes in the human genome belong to families, much like the people who carry them. What we are interested in knowing is the evolutionary tree of genes, the distant cousin genes and very closely related sister genes, he says. Scientists can recognize gene families because their members have similar sequences. Because the patterns of their genetic codes are similar, related genes functions are also often alike. Most interesting to Kumar is what makes each family member unique how its sequence and function differ from its relatives.
Gene sequences change as a result of mutation.
A mutation s effect is akin to changing the words in a sentence. Sometimes changing one critical nucleic acid can turn a gene off or alter its function. This is the basis for many inherited genetic diseases. Kumar s objective is to learn the signature sequences of these function-altering mutations, then use them to predict the functions of distant cousin and closely related genes. Part of the power of Kumar s approach is that he has developed computer-based methods for studying the sequences of hundreds of thousands of genes simultaneously.