Unit 2 - 12. The Human Genome Project & Beyond

Question 1

Genomics

Answer 1

• comprehensive study of the genomes

Question 2

Proteomics

Answer 2

• study of all proteins present in a cell at a given time

Question 3

6 major Goals of the Human Genome Project

Answer 3

1. To develop a high resolution genetic map of each human chromosome
2. To develop physical maps of each chromosome
3. To determine the nucleotide sequence of the genome
4. To develop improved methods for DNA sequencing of the genome
5. ELSI= to identify and address the major ethical, legal, and social implication of the Human Genome Project
6. To sequence the genomes of other model organisms in order to study gene function and evolutionary relationships

Question 4

Facts we have learned from the Human Genome Project

Answer 4

• the human genome contains over 3 billion nucleotides and 21,000 genes
• only 1% of the human genome are exons
• many human genes share similarities with other organisms

Question 5

Genetic map

Answer 5

• shows order and relative distance between genes and genetic markers on a chromosome
• based on inheritance patterns
• uses the unit Centimorgan (cM); 1 cM = 1% chance that recombination will occur

Question 6

Physical map

Answer 6

• shows order and physical distance between genes and genetic markers, measured in bases, kilobases (kb), or megabases (Mb)

Question 7

SNP

Answer 7

• single nucleotide polymorphism

- a DNA seqeunce variation involving a single nucleotide base

Question 8

CNV

Answer 8

• copy number variations
• a large DNA segment that is found a variable number of times in the genome
• due to gene deletions and duplications

Question 9

Benefits of the Human Genome project

Answer 9

1. Gene testing - improve diagnosis of disease and detect genetic predispositions to disease
2. Gene therapy - treat patients with genes in which they are deficient
3. Pharmacogenomics
   - design custom drugs based on individual genetic profiles

Question 10

1000 Genomes Project

Answer 10

• a study to sequence the gnomes of at least 1000 people around the world to further refine the human genome map by establishing a detailed catalog of genetic variation (now planning to do this in 25 populations)

Question 11

Road Map Epigenomics Project

Answer 11

• goal is to identify regions of DNA methylation, histones modifications, chromatin accessibility, and small RNA transcripts associated with normal cells as well as human disease.

Question 12

Gene Function and Proteomics project

Answer 12

• finding proteins to target in drug development to treat genetic disorders and other diseases

Question 13

Human Microbiome Project

Answer 13

• identify and characterize microorganisms that are found on/in the human body
• compare/contrast finding in healthy vs. diseased individuals

Question 14

ENCODE project

Answer 14

= “Encyclopedia of DNA Elements”

- purpose is to identify all functional elements in the human genome

Question 15

Findings of the ENCODE project

Answer 15

• 80% of genome is functional
• many genes code for RNA (not protein) as the end product
• long noncoding RNAs (lncRNAs) play a role in gene regulation
• 90% of SNPs associated with human disease and other phenotypes fell outside of protein-coding regions