Essentials of Medical Genomics by Stuart M. Brown
By Stuart M. Brown
This introductory reference presents a realistic, concise precis of every thing a doctor must find out about genomics and rising applied sciences. via huge illustrative examples, this ebook deals a transparent and concise place to begin to figuring out how medication has been, and may be, reworked via genomics and bioinformatics. starting with a transparent evaluate at the Human Genome venture and its innovative impression, the booklet extra investigates new applied sciences intimately, together with: high-throughput DNA sequencing, genome series databases, microarrays, proteomics, pharmacogenomics, genetic trying out, and gene treatment.
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Extra resources for Essentials of Medical Genomics
Copyright 2002, BIOS Scientiﬁc Publishers Ltd. removed) functional domain is produced from a gene, resulting in different protein function. ’’ (Sorek, 2001). The totality of all of these different mRNAs is called the transcriptome, which is certainly many times more complex than the genome. The relative levels of alternate splice forms for a single gene may have substantial medical signiﬁcance. There are 60 kinase enzymes that have 28 Deciphering the Human Genome Project alternate splice forms that do not include their catalytic domains, creating proteins that may function as competitive inhibitors of the full-length proteins (Sorek, 2001).
Watson and Crick realized that this model of DNA structure contained many implications (Fig. 1-14). First, the two strands of Genes Are Made of DNA 17 FIGURE 1-14. Watson and Crick demonstrate their model of the DNA double helix. Reprinted with permission, Photo Researchers, Inc. the double helix are complementary. —perfectly retaining the information in the original double strand. In 1953, in a single-page paper in the journal Nature, Watson and Crick wrote, with a mastery of 18 Deciphering the Human Genome Project understatement: It has not escaped our attention that the speciﬁc pairing we have postulated immediately suggests a possible copying mechanism for the genetic material.
The enzyme RNA polymerase catalyzes the incorporation of free RNA nucleotides into the growing chain (Fig. 1-17). However, not all of the DNA is copied into RNA, only those portions that encode genes. In eukaryotic cells, only a small fraction of the total DNA is actually used to encode genes. Furthermore, not all genes are transcribed into mRNA in equal amounts in all cells. The process of transcription is tightly regulated, so that only those mRNAs that encode the proteins that are currently needed by each cell are manufactured at any one time.