By studying the genomes of 29 mammals, an international team of researchers has discovered millions of new regulatory elements in the human genome that in various ways govern how proteins are formed.
The new knowledge is important for our understanding of how mutations in human genes give rise to diseases.
The human genome was mapped some ten years ago, but its function has been difficult to understand. Recent comparisons with mice, rats, and dogs, have shown that humans have more than 20,000 genes.
However, it has been difficult to find the elements in the genome that determine when, where, and how genes produce proteins.
By comparing a large number of mammals, scientists have now created a catalogue of millions of regulatory elements found both between and within genes.
These elements are incredibly important in making us humans into the complex organisms that we are, even though our genes are rather similar to those of other vertebrates,” says the lead author of the study, Kerstin Lindblad-Toh, Scientific Director of Vertebrate Genome biology, at the Broad Institute in the US and professor of comparative genomics, Uppsala University, Sweden.
The study has been published in the journal Nature.