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Presentation 1
Presentation 1
Presentation 1
the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining. The haploid human genome occupies a total of just over 3 billion DNA base pairs. The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences. The haploid human genome contains ca. 23,000 proteincoding genes, far fewer than had been expected before its sequencing.[1][2] In fact, only about 1.5% of the genome codes for proteins, while the rest consists of non-coding RNA genes, regulatory sequences, introns, and noncoding DNA (once known as "junk DNA")
GOALS OF HUMAN GENOME PROJECT The sequence of the human DNA is stored in databases available to
anyone on the Internet. The U.S. National Center for Biotechnology Information (and sister organizations in Europe and Japan) house the gene sequence in a database known as GenBank, along with sequences of known and hypothetical genes and proteins. Other organizations, such as the Genome Bioinformatics Group at the University of California, Santa Cruz,[11] and Ensembl[12] present additional data and annotation and powerful tools for visualizing and searching it. Computer programs have been developed to analyze the data, because the data itself is difficult to interpret without such programs. The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects. The best current technologies for annotation make use of statistical models that take advantage of parallels between DNA sequences and human language, using concepts from computer science such as formal grammars.
FEATURES
Genes There are estimated to be between 20,000 and 25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down as genome sequence quality and gene finding methods have improved. Earlier[when?] predictions estimated that human cells had as many as 2,000,000 genes. Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly. However, a larger proportion of human genes are related to central nervous system and especially brain development. Regulatory sequences The human genome has many different regulatory sequences which are crucial to controlling gene expression. These are typically short sequences that appear near or within genes. A systematic understanding of these regulatory sequences and how they together act as a gene regulatory network is only beginning to emerge from computational, high-throughput expression and comparative genomics studies. Some types of non-coding DNA are genetic "switches" that do not encode proteins, but do regulate when and where genes are expressed.
Repeat elements Tandem repeats Satellite DNA Minisatellite Microsatellite Interspersed repeats SINEs LINEs
METHOD While the objective of the Human Genome Project is to understand the genetic S makeup of the human species, the project has also focused on several other
nonhuman organisms such as E. coli, the fruit fly, and the laboratory mouse. It remains one of the largest single investigative projects in modern science. The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project, Applied Biosystems, Perlegen, Illumina, J. Craig Venter Institute, Personal Genome Project, and Roche-454. The "genome" of any given individual (except for identical twins and cloned organisms) is unique; mapping "the human genome" involves sequencing multiple variations of each gene.[3] The project did not study the entire DNA found in human cells; some heterochromatic areas (about 8% of the total genome) remain unsequenced. Benefits The work on interpretation of genome data is still in its initial stages. It is anticipated that detailed knowledge of the human genome will provide new avenues for advances in medicine and biotechnology. Clear practical results of the project emerged even before the work was finished. For example, a number of companies, such as Myriad Genetics started offering easy ways to administer genetic tests that can show predisposition to a variety of illnesses, including breast cancer, hemostasis disorders, cystic fibrosis, liver diseases and many others
Biotechnology
The potential for commercial development presents U.S. industry with a wealth of opportunities. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. The HGP has stimulated significant investment by large corporations and promoted the development of new biotechnology companies hoping to capitalize on the implications of HGP research (3).