Humans genes

Morgan, R. A., and Anderson, W. F., 1993. Human gene therapy. Annual Review of Biochemistry 62 191 —217. 

Claverie, J.-M. (2001). What if there were only 30,000 human genes Science 291 1255-1257. 

O Dowd BF, Heiber M, Chan A et al (1993) A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. Gene 136 355-360... 

Knocking out genes and identification of mutations in the human genes provide information on the role of AQPs in normal physiology. The lack of some AQPs directly results in a disease phenotype, while the physiological role of many becomes clear when the putative function is challenged. 

About 78 human genes encoding a variety of K+ channels and auxiliary subunits have been identified (Fig. 1 Table 1). While the K+ channels are diverse, they share with a unique conducting pore highly selective for K+ ions. TheK+ channels ar e tetramers composed of four a subunits that form the conducting pore. On the basis of primary amino acid sequence of a subunit, K+ channels can be classified into three major families (Fig. 2). 

Keyse, S.M. Emslie, E.A. (1992). Oxidative stress and heat shock induce a human gene encoding a protein-tyrosine phosphatase. Nature 359, 644-647. 

Wu, B., Williams, G.T., Morimoto, R.I. (1987). Deletion of three protein binding sites in the serum-regulated promoter of the human gene encoding the 70 kDa heat shock protein. Proc Natl. Acad. Sci. USA 84, 2203-2207. 

MA Wolfert, EH Schacht, V Toncheva, K Ulbrich, O Nazarova, LW Seymour. Human Gene Ther. 7 2123-2133, 1996. 

McKusick VA Mendelian Inheritance in Man. Catalog of Human Genes and Genetic Disorders, 12th ed. Johns Hopkins Univ Press, 1998. [Abbreviated MIM]... 

Table 40-1. Variations in the size and complexity of some human genes and mRNAsJ...

Human genes do more work than those of the roundworm or fruit fly (eg, alternative splicing is used more frequently). 

Human Genes Do More Work Than Those of Simpler Organisms... 

The results of the two dtafts are rich in information about protein famihes and classes. One example is shown in Table 54—3, in which the major classes of proteins encoded by human genes are listed. As can be seen, the latgest class is unknown. Identification of these unknown ptoteins will be a major focus of activity for many laboratories. 

Table 54-3. Major classes of proteins encoded by human genes. ...

Many important findings have already emerged. The one to date that has generated the most discussion is that the number of human genes may be only two to three times that estimated for the roundworm and the fruit fly. 

A database of human genes, their products, and their involvements in diseases. From the Weizmann Institute of Science.) GeneTestsGeneClinics http //www.geneclinics.org/... 

The Human Gene Mutation Database http //archive.uwcm.ac.uk/ uwcm/ mg/hgmdO.html... 

An extensive tabulation of mutations in human genes from the Institute of Medical Genetics in Cardiff, Wales.)... 

The promise of being able to predict and modify the genetic characteristics of an organism fuelled massive efforts to determine the base sequences of human genes. The human genome project has now reached the goal of sequencing all the important DNA carried by humans. 

Potentially, interferon is an ideal anhviral agent in that it acts on many different vimses and is not toxic to host cells. However, the exploitation of this agent in the treatment of viral infechons has been delayed by a number of factors. For example, it has proved to be species-specific and interferons raised in animal sources offered little protechon to human cells. Human interferon is thus needed for the treatment of human infechons and the produehon and purificahon of human interferon on a large scale has proved difficult. The inserhon of human genes for interferon into E. coli has resolved the produehon problems (Chapter 24). Clinical trials have demonstrated that interferon prevents rhinovirus infeehon and has a beneficial effect in herpes, cytomegalovims and hepahtis B vims infechons. 

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