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Gene
Genetics
h2
CHAPTER OUTLINE
1.1 Why genetics is needed to answer the most fundamental questions of biology? (genetic variation and inheritance) 1.2 What is the molecular basis of genetic information? (the gene structure, organization, and function) 1.3 Why variation is important in genetic investigation? (evolution is a genetic change through time) 1.4 Which methodologies are used in genetic analysis? (transmission, molecular, and population) 1.5 Why and What type of model organisms are used? 1.6 How genes and the environment determine the final phenotype of an organism? P=G+E+GE
Chapte 1 Opener
Blue-green 2 Hazel 3
Light-brown 4 Brown 5
Dark-Brown 6
Figure 1-2
(1014 cells) 2n
In all cellular organisms, the genetic material is DNA. The genetic material
Must be able to replicate
Each DNA strand is the template for the production of a new strand
Figure 1-4
What is a Gene?
One gene-One polypeptide concept (Epigenetics) Genes are made of nucleic acids Nucleic acids are made of building blocks called nucleotides Nucleotides have three components Sugar molecule (ribose or deoxyribose) Phosphate molecule Nitrogen-containing molecule (adenine, guanine, cytosine, thymine, uracil) RNA is ribonucleic acid DNA is deoxyribonucleic acid
When the two parental strands are separated, the separated strands can serve as template for the synthesis of new strands.
New strands are assembled by incorporating nucleotides according to base-pairing rules.
At the end of replication, each template strand is paired with a newly synthesized partner strand. DNA replication is catalyzed by enzymes.
Figure 1-5
Figure 1-6
mRNA
Figure 1-7
Figure 1-8
Figure 1-9
Charles Darwin
Variation in the DNA sequence makes it possible for species to evolve over time. Organisms with similar DNA sequences are descended from a common ancestor.
Alfred Wallace
Figure 1-10
Reverse Genetics
A phylogenetic tree
The genomes of humans and chimpanzees differ by only a small percentage of nucleotides
Figure 1-11a
The genomes of humans and chimpanzees differ by only a small percentage of nucleotides
Figure 1-11b
A new study concludes that humans mated with Neanderthals 50,000 to 80,000 years ago, leaving traces of the Neanderthal genome in some modern human
Anatomically modern humans mated with Neanderthals, likely in North Africa or the Middle East as modern humans initially were moving out of Africa. The team came to that conclusion after comparing the Neanderthal genome with those of five humans today: one each from Europe, Asia, and Papua New Guinea, and two from different regions of sub-Saharan Africa. They found that from 1 to 4 percent of the DNA in the genomes of people from Eurasia and the southwestern Pacific were inherited from Neanderthals. Neanderthal-derived genes failed to show up in the African genomes.
7 MAY 2010 VOL 328 SCIENCE www.sciencemag.org
This picture shows the reconstruction of a Neanderthal woman at the Neanderthal Museum in Mettmann, Germany, on March 20, 2009.
Homo neanderthalensis
Figure 1-12
kb
11.5
5.1
NT-H
NT-Ru
Southern Blot
419
877 861 882 420 838
NT-H
202
205
141
108
302
23
BVLZ SoD1
Size marker
Northern Blot
BVLZ
92
87
160
933
968
905
NT-Ru
68
Western Blot
A small number of model organisms have been the focus of genetic research
Rod-shaped bacterium 4.6 106 base pairs (Mb) 4288 proteincoding genes Single circular chromosome Average gene size 1 Kb, no introns Genome sequenced in 1997 E. Coli x Phage Bacteriophage
(linear chromosome)
A small number of model organisms have been the focus of genetic research
Figure 1-13b
Neurospora
Genome size: 43 Mb Chromosomes: 7 autosomes (n=7) Number of genes: 10,000 Average gene size: 1.7 kb, 1.7 introns/gene Transposons: rare Genome sequenced in: 2003
A small number of model organisms have been the focus of genetic research
Arabidopsis
Figure 1-13c
Self-fertilizing Diploid, 5 autosomes (2n=10) Model for agriculturally significant plants 157 106 base pairs (Mb) 27,706 genes Average gene size 2 Kb, 4 introns/gene Genome sequenced 2000
Biomedical research Comparative genomics 2.9 109 base pairs 25,396 genes Chromosomes 19 autosomes, X and Y (2n=40) Average gene size 40 Kb, 8.3 introns/gene Genome sequenced in 2002
Key Points
The bacterium E. coli is the premier prokaryote for genetic analysis. Model eukaryotes include yeast (S. cerevisiae), a fruit fly (D. melanogaster), a round worm (C. elegans), the mouse (M. musculus), the zebrafish (D. rerio), and a fast-growing plant (A. thaliana). Techniques such as cell culture and DNA cloning have made it possible to study the genetic material of human beings and many other organisms.
Figure 1-14 pt 1
E1 E2
A1 A2 B1 B2
Figure 1-17
E1 E2
Figure 1-18
Genetics in Society
Economic impactbiotechnology industry, pharmaceutical industry.