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A catalogue of regulatory elements
| Study: | A high-resolution map of human evolutionary constraint using 29 mammals |
| By: | Lindblad-Toh K. et al. (64 authors total) |
| In: | Nature |
| Link: | http://dx.doi.org/doi:10.1038/nature10530 |
Compare DNA sequences from different mammals in order to identify DNA regions that have a regulatory role and how they function.
The genomes of 29 different mammals were sequenced and compared to identify sequences that had not changed overtime in the different species. The function of these sequences was determined through looking at their overlap with known genes, specific patterns of conservation and comparisons with experimental data sets.
Over 3.5 million constrained elements were identified – these encompass approximately 4% of the human genome. Function was assigned to around 60% of these elements, this ranged from previously undetected exons to new RNA structures. The function of the remaining 40% is unknown.
Such studies allow identification of elements which are evolutionarily conserved across species as well as those that have changed. This together with information from studies on disease genetics and biochemistry can provide a better understanding of human biology. In addition knowledge of these elements can be used to prioritize disease-associated variants.
The majority of the human genome consists of non-coding regions that are thought to play an important regulatory role however, until now the function of many of these regions was unknown. This study improves our understanding of the human genome and provides an important resource for many researchers including those interested in human diseases, by allowing them to elucidate how mutations in these regions are involved in health and disease.