Genetics

- Transfer of genetic information

1) Within families
2) Within and between cells
3) Within populations

Blending Theory: Hereditary Fluids

- Founding Father: Gregor Mendel

- Mendel carried out his experiments with pea plants
- Factors that control traits act like particles (genes) rather than
fluids
- When plants form sex cells/gametes only one gene enters the
reproductive cells
- One of Mendel’s experiments
- No blending in 1st generation offspring (“blending theory”)
- Genes that control flower color come in 2 variants or alleles
- The purple color was dominant over the white
- Gametes carry one gene copy and parents carry 2 gene
copies

Transmission of Genetic Information

- Transmission of traits from parents to offspring was addressed in Mendel’s work with
peas.
- He selected strains differing in defined traits (e.g., smooth or wrinkled seeds,
purple or white flowers)
- After making genetic crosses, he counted the appearance of traits in the progeny
and analyzed the results mathematically.
- He concluded that ​each organism contains two copies of each gene​, ​one
from each parent​, and that​ alternative versions of the genes (alleles) exist
(e.g., flower color alleles are purple, ​C, ​and white, ​c​).
- Allele is one of the different forms of a gene that can exist in a particular
locus
DNA, Genes, and Chromosomes

- Genes​ are ​specific sequences of nucleotides​ that​ pass traits from parents to
offspring
- Genetic material in cells is organized into chromosomes
a) Prokaryotes​ ​don’t have a nucleus, or membrane bound organelles, generally
have one circular chromosome.
b) Eukaryotes​ generally have:
i) Nucleus where chromosomes are located, with different species
having different numbers of chromosomes.
ii) DNA (Deoxyribonucleic acid)​ in organelles (e.g., mitochondria,
chloroplasts) that is usually a circular molecule
- Genetic material of both eukaryotes and prokaryotes is DNA. Many viruses also
have DNA, but some have RNA genomes instead.
- An organism’s full DNA sequence, or the DNA or RNA sequence of a virus, is its
genome
- DNA has​ two chains​, each made of ​nucleotides ​composed of a deoxyribose
sugar, a phosphate group, and a base. The chains form a double helix
- There are four bases in DNA:​ A (adenine), G (guanine), C (cytosine), and T
(thymine).
- In RNA, U (uracil) replaces T
- The four 4 DNA bases code for 20 different amino acids, which are the building
blocks of proteins.

Chromosomes

- Composed of ​DNA and protein

- Most​ prokaryotes have a single usually circular
chromosome
- In ​Eukaryotes, chromosomes have linear structure.
- Chromosomes ​differ in size and morphology.
- Each has a constriction called a ​centromere.

Chromosomal DNA

- DNA is very efficiently packaged in a

chromosome
- This is done by coiling the DNA around
molecular spools known as ​nucleosomes
- Each nucleosome is composed of ​eight
proteins known as ​histones
- DNA and associating nucleosomes​ are
called ​chromatin
Eukaryotic Chromosomes

- Ploidy​= number of sets of chromosomes.

- N= chromosome set
- 1N= 1 set of chromosomes
- 2N= 2 sets of chromosomes.
- Haploid organisms have 1N, while diploid organisms
have 2N.
- Diploid organisms have ​homologous pairs​; 2 versions
of each chromosome. One member in each pair
inherited from each parent

Chromosomes

- The number of chromosomes​ vary among organisms.

- Each species has a set number of chromosomes. Exceptions
exist.
- Most chromosomes are autosomes.
- There are also ​Sex chromosomes.
- In human, N = 23 and 2N = 46, including 22 pairs of
autosomes and 1 pair of sex chromosomes

Expression of Genetic Information

- Gene expression​ is the process by which ​a gene produces

its product ​and the ​product carries out its function.
- Gene products are proteins.
- Production of proteins requires 2 steps:
1) Transcription​- involves an enzyme (RNA polymerase)
making an RNA copy of part of one DNA strand .There
are four main classes of RNA.
2) Translation​- converts the information in mRNA into the
amino acid sequence of a protein using ribosomes,
large complexes of rRNAs and proteins.
Genes have regulatory and coding regions

Desirable qualities for an experimental organism include:

1) A ​well-known genetic history.

2) A ​short life cycle​ so that generations can be studied in a relatively short time.
3) Large number of offspring from each mating.
4) Ease of growing and handling.
5) Marked genetic variation.

Eukaryotes used in current genetic research include:

- Saccharomyces cerevisiae (a unicellular baking yeast).

- Drosophila melanogaster (fruit fly).
- Caenorhabditis elegans (nematode).
- Arabidopsis thaliana (a small weed in the mustard family).
- Mus musculus (mouse).
- Neurospora crassa (orange bread mold).
- Pisum sativum (garden pea).

Transmission of Genetic Information

- An organism that has the​ same alleles for a trait is ​homozygous ​(e.g., C ​ r ​cc​).
​ Co
- An organism with​ two different alleles​ (e.g., ​Cc​) is ​heterozygous.
- The ​complete genetic makeup​ of an organism is its ​genotype​.
- All ​observable traits​ of an organism are its ​phenotype.
- The ​genotype interacts​ with both​ internal and external environments ​of the organism
to ​produce the phenotype.
Sources of Genetic Variation

- Genetic differences​ between organisms arise from ​mutations, recombination, and

selection​. All three are necessary for the process of evolution. Recent evidence also
shows a big role for ​epigenetics in phenotypic variation.
1) Mutations​: heritable changes in the genetic material
a) may be ​spontaneous or induced​. Only those that escape the cell’s DNA
repair mechanisms are fixed in the genome and passed to the next
generation.
2) Recombination​: ​exchange of genetic material
a) is produced by enzymes that ​cut and rejoin DNA Molecules.
3) Selection​: favoring ​particular combinations of genes in a given environment
a) Was described by ​Darwin.​ Its main ​consequence​ is to ​change the
frequency of genes affecting traits under selection.​ Different
genotypes contribute alleles to the next generation in proportion to their
selective advantage.
4) Epigenetics​- c ​ hanges in phenotype​ ​in the absence of any underlying
change in the DNA sequence.

Classical and Modern Genetic

- Mutant analysis led to understanding of specific processes. This work has included:
- Analyzing heredity in populations.
- Analyzing evolutionary processes.
- Identifying genes that control steps in processes.
- Mapping genes.
- Determining products of genes.
- Analyzing molecular features of genes and regulation of gene expression.
- Recent important milestones in genetics include:
- Berg’s construction (1972) of the first recombinant DNA molecule in vitro.
- Boyer and Cohen’s first cloning (1973) of a recombinant DNA molecule.
- Invention by Mullis (1986) of the polymerase chain reaction (PCR) to amplify
specific DNA sequences
- Completion of genomic sequencing for an increasing number of organisms has spawned
the new field of genomics.
- Powerful new techniques in genetics raise important ethical, legal, and social issues that
will need thoughtful solutions
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