The ‘promoter’ and the ‘enhancer’ sequences in the Human Genome and ENCODE

The field of Human Biology has taken giant strides during the last decade with the mammoth efforts of unraveling the mysteries of the sequencing of the Human Genome. About 20000 genes and three billion letters (bases) have been identified which are responsible for the way we look and are built and the way we function and feel. Taking the task further, the scientists have started working on the functioning of different genes in order to explore their functions. However, lots of missing links and chinks remained to be found in the human genome. ENCODE (Encyclopaedia of DNA Elements) is a consortium of collaboration of International Research Groups which tries to list functional elements in the human genome. During 2003, ENCODE started a new initiative to catalogue the areas between different genes with functional DNA sequences which had not been identified earlier. Good amount of research has poured in and it has been estimated that about 80% of the functions to the human genome has been assigned. The results of ENCODE Consortium were published recently in leading journals of the world including Nature and Science in the form of a coordinated set of 30 papers in September 2012, where an estimated 4 million regulatory regions of the human genome have been mapped and sequenced. This includes the information on promoter and the enhancer sequences which control and regulate the gene expressions. Once complete, this catalogue may go a long way in understanding the type of cells in the body in which these sequences are active and would also help understand how these sequences exert their influence on the genome and its functions. The day is not far off when information about the regulation and expression of each gene in the human body would be known. Perhaps that would be the key to unlocking the secrets of health and disease in the human body.

Professor S. P. Singh, Ph.D.
Editor-in-Chief, Human Biology Review
Former Dean, Faculty of Life Sciences,
Punjabi University, Patiala, India


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