It became evident to investigators and physicians involved with genetics that the amount of information to be derived from unraveling the genome would be exhaustive. It was thus necessary to develop a computerized network of gene databases in which information would be rapidly entered worldwide and available worldwide at no cost. GenBank, a computerized network of gene banks, was established in the United States, Britain, and Japan, and all investigators have agreed to input their data daily. This database resource has been invaluable to medical scientists throughout the world. Information on DNA and genes from all species is entered into this network and cataloged for readily accessible use. Over 2 billion DNA bases have been collected from over 39,000 species, and that number is rapidly expanding on a daily basis. There are over 500,000 queries per day for information from GenBank alone. The information in GenBank provides available access to all investigators identifying genes.
The storage of gene sequences is likely to directly contribute to the determination of gene function. The functions of certain genes are often first determined in simple organisms, such as single-cell bacteria or viruses. It is also well recognized that certain genes, because of their function, have been conserved through evolution. Thus, when a DNA sequence is identified in the human genome with consensus sequence to one of the genes of known function in simpler organisms, one immediately has an important clue to the function of that sequence in humans. Such comparative genomic techniques are expected to significantly accelerate our search for the function of genes. A DNA sequence from the human genome with unknown function can be entered into a gene bank network such as GenBank (B*;H;http://www.ncbi.nlm.nih.gov) and a consensus sequence sought. It is possible with GenBank to travel back in time over 1 billion years to very simple organisms of which much more is known of the function of their genes. Although the human genome may contain 100,000 genes, it is highly likely that many of these genes can be grouped into families that have a common function, such as the genes that encode for kinases. These proteins all have a common function: the transfer of high-energy phosphate from one compound to another. Therefore, genes encoding for kinases will share this common functional motif. This common motif can be used to group unknown genes that have the motif in their sequences to encode for kinases. It is estimated there are over 3000 genes encoding for various kinases. Thus, in addition to computerized comparative genomics, another function of bioinformatics is to cluster based on common functional motifs. Another emerging contribution from bioinformatics is the grouping of genes that have in common a functioning pathway, whether it be that of metabolism or message signaling. Several such signaling pathways have been identified, including the map kinases, the inositol phosphatases, and the tyrosine kinases. It is expected that several metabolic pathways, such as glycolysis, the Kreb's cycle, the hexosmonophosphate shuttle, and others, will have a common group of genes. The cascade of signaling proteins responsible for growth and development of the heart is likely to be very similar across the invertebrate, vertebrate, and mammalian cardiac genetic systems. It is of note that all mammals have a similarly sized genome of 3 billion bases with an estimated 100,000 genes. Similarly, the network of molecules that process the electrical activity to decipher and analyze messages in the brain is likely to have common genetic pathways. It is anticipated that information on human disease-causing genes available from GenBank will be transmitted to nursing stations and made available to all personnel, including physicians, nurses, genetic counselors, and others. Determining the function of genes through such bioinformatics techniques as comparative genomics and gene clustering is likely to contribute greatly to our understanding of the role of genes in human physiology and disease.
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This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.