Overview
A genome is all of the DNA sequences that comprise the hereditary information of a given organism. The Human Genome Project was a tour de force of international scientific collaboration involving governmental and private funding that spanned more than a decade, from its inception in 1990 to its declared completion in 2003. The project determined the nucleotide sequence of each of the human chromosomes and mapped the locations of all the predicted genes on those chromosomes. All of this information is stored in an enormous database that is publicly available for use by any scientist in the world. The scope of this accomplishment rivals that of the 1969 lunar landing in the amount of collaboration required among hundreds of scientists and other specialists. What is even more astonishing, however, is the pace of advances in DNA sequencing technology, genetic engineering, molecular medicine, and biotechnology that have occurred in the years since the completion of the Human Genome Project, jumpstarted by the wealth of data it produced and the enticement of putting this knowledge to practical use.
Chapter Outline
Selected Videos
- RFLPs and their use as genetic markers: https://www.youtube.com/watch?v=wUEgQYoKUqw
- Gene cloning (making a recombinant DNA molecule): https://www.youtube.com/watch?v=FAMRQz7fOaE
- Making human insulin in bacteria: https://www.youtube.com/watch?v=LP5TctAPPUI
- Gene therapy (basic level): https://www.youtube.com/watch?v=GbJasFgJkLg
- Polymerase chain reaction (PCR): https://www.youtube.com/watch?v=2KoLnIwoZKU
- CRISPR/Cas9 gene editing (short): https://www.youtube.com/watch?v=UKbrwPL3wXE
- CRISPR/Cas9 gene editing (more extensive): https://www.youtube.com/watch?v=6tw_JVz_IEc
- Comparative genomics: https://www.youtube.com/watch?v=Irs65GAu1YM
- Sequencing the human genome: https://www.youtube.com/watch?v=AhsIF-cmoQQ
- Next-generation DNA sequencing: https://www.youtube.com/watch?v=CZeN-IgjYCo
Weblinks
-
Human Genome Project information (US Dept. of Energy) (Lots of information, incl.
Frequently Asked Questions, also a list of species whose gene sequences are now known.) - The complete human genome, updated daily
- J.Craig Venter Institute
- National Center for Genetic Engineering and Biotechnology (Thailand)
- Human genome resources (NCBI)
- Human genome resources (Nat. Library of Medicine)
- Brief Guide to Genomics (NIH Human Genome Research Inst.)
- National Center for Genome Resources
- National Human Genome Research Institute
- Jackson Laboratory (mouse genetics and human diseases)
- Jackson Laboratory: mouse informatics (including mouse/human comparisons)
- Gene therapy (Medline)
- Généthon– Gene therapies research & applications center
- What is CRISPR-Cas9?
- Questions & Answers about CRISPR (Broad Institute)
- Human cloning: religious perspectives (Pew Research)
Review Questions
CHAPTER 4:
- Can you explain exactly what restriction endonucleases are, and how they differ from other types of nuclease? Can you explain how they can be used to combine DNA segments from different sources to generate recombinant DNA molecules? (If you cannot explain these things, or if you are not sure, then you need to reread Section 4.1.)
- Can you explain the various steps involved in producing a genetically engineered product such as human insulin? (If you cannot explain these things, or if you are not sure, then you need to reread Section 4.1.)
- Can you explain the steps involved in CRISPR gene therapy? What are several ways in which this technique is used? (If you cannot explain these things, or if you are not sure, then you need to reread Section 4.1.)
- Can you explain what DNA markers are? What are some uses that have been made of this technology? (If you cannot explain these things, or if you are not sure, then you need to reread Section 4.2 and perhaps also refer back to Section 3.3.)
- What are some of the techniques that were used in the Human Genome Project? What are some of the biological lessons learned from this project, both about humans and nonhumans? What new fields have opened up as a result of the Human Genome Project? (If you cannot explain these things, or if you are not sure, then you need to reread Section 4.3 and 4.4.)
Open Response Questions
These questions are designed to assess your understanding of the topics explored in this chapter. You can use these questions in three ways:
Before you start …
Read through the questions before you read the chapter to help prime you to read the text more carefully and strategically. Remember that you are just starting out on your learning journey, so don’t feel disheartened if you don’t know how to answer them yet!
Whilst you read …
As you work through the chapter, have another go at answering the questions to see how you are progressing. You can also answer the questions with the textbook open in front of you, in order to create model answers that can be used to refer back to later.
At the end …
Answer the questions once you have finished reading to see what you have learned. Check your responses against your model answers and use these to identify any gaps in your understanding.
DEFINITIONS:
In your own words, define ANY TWO of the following terms:
CRISPR comparative genomics intron DNA palindrome
restriction endonuclease DNA probe selective marker gene therapy
ESSAYS:
Answer any two of the following questions. Make sure to answer all parts of any question you choose.
- Outline the steps in the production of human insulin by bacteria.
- Explain (A) the relationship between ADA and SCID, and (B) how genetic engineering can be used to treat SCID.
- What is similar about the processes of transformation, transfection, and transduction, as described in this chapter, and what is different about them? In your answer, you should define each of these processes and explain how it pertains to genetic engineering.
PowerPoint Slides
Download Version A (Illustrations only)
Download Version B (Topic outlines also)
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