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Genetics Review

Chapter 5

Mendels Investigations

Gregor Mendel was the first to closely examine principles of heredity. Mendel chose peas to study inheritance because they possess several contrasting traits without intermediates.

Mendels Investigations
Mendel was not aware of the existence of chromosomes or genes. It is easier to get the big picture of heredity by combining Mendels results with what we know about chromosomes.

Meiosis is the special type of cell division that produces eggs and sperm. In meiosis, a diploid cell with two sets of homologous chromosomes will divide so that the daughter cells are haploid and have one set of chromosomes.

Chromosomes have replicated during interphase just as in mitosis. Meiosis actually consists of two separate divisions.

Meiosis I serves to separate the two versions of the chromosome (homologues). Meiosis II serves to separate the two replicas of each version (sister chromatids).


Because there is only one replication of DNA but two cell divisions, each of the four daughter cells is haploid has only one set of chromosomes.


reestablishes the diploid chromosome number.

of egg and sperm produces a zygote (single cell). Contains chromosomes of egg and sperm 2 sets of chromosomes (diploid).

Meiosis I

Prophase I Chromosomes become visible.

The 2 versions of each chromosome pair up and exchange segments. This is called crossing over. Late in prophase, the nuclear envelope disappears.

Meiosis I
Metaphase I Spindle apparatus forms. Chromosomes line up in the middle.

Which chromosome faces which pole is random. This is called independent assortment.

Meiosis I

Anaphase I The spindle is complete.

Homologues are pulled apart and move toward opposite poles. Sister chromatids NOT separated yet. Each pole has half as many chromosomes (one set rather than two) as the original cell.

Telophase I the chromosomes gather at the two poles and wait for the onset of meiosis II.

Meiosis II
After a brief interphase in which NO DNA synthesis occurs, meiosis II begins. Meiosis II is just like mitosis except that the sister chromatids are no longer identical due to crossing over.

Meiosis II
Prophase II nuclear envelopes break down as a new spindle forms. Metaphase II chromosomes line up in the middle of the cell and spindle fibers bind to both sides of the centromeres.

Meiosis II
Anaphase II spindle fibers contract splitting the centromeres and moving the sister chromatids to opposite poles. Telophase II The nuclear envelope reforms around the four sets of daughter chromosomes.

Meiosis II
The resulting 4 daughter cells are haploid. No 2 cells are alike due to crossing over. In animals, these cells develop directly into gametes (eggs & sperm). In plants, fungi & many protists they divide mitotically to produce greater numbers of gametes.

Meiosis Review

Sex Determination

Sex chromosomes vs. autosomes

Autosomes chromosomes present in both sexes, do not influence sex. In humans, females have 2 X chromosomes, while males have and X and a Y.

Sex Determination

Some species have XX females and X males. Others have ZZ males and ZW females. In others, sex is determined environmentally.

Mendels Laws

Mendels experiments with garden peas resulted in his two laws of inheritance.
Law of segregation Law of independent assortment

Mendels Peas

The peas can self-fertilize or outcross.

Mendel could control who the parents were.

Mendel always started with truebreeding parents.

E.g. self-fertilized white flowered parents always produced white flowered offspring.

Mendels Peas

He could cross true breeding white with true breeding purple this is the parental generation. Resulting in all purple offspring this is the F1 generation.

Mendels Peas

Allowing the hybrid F1 generation to self pollinate gives the F2 generation with 3 purple: 1 white offspring. He kept careful quantitative records that allowed him to find patterns.

Mendels Law of Segregation

Mendels explanation of the 3:1 ratio of purple (dominant) to white (recessive) flowers resulted in the Law of Segregation.

Mendels Law of Segregation

Alternative versions of genes account for variations in inherited characters.

Two versions of the flower color gene are purple & white. We now call these versions alleles.

Mendels Law of Segregation

For each character, an organism inherits two alleles, one from each parent.

Mendel deduced this without knowledge of chromosomes!

If there are two different alleles present only one of them the dominant allele determines the appearance.

Mendels Law of Segregation

Mendels Law of Segregation the two alleles for a heritable character separate during gamete formation and end up in different gametes.

Each egg or sperm will contain either one of the two alleles, but not both!

Genetic Terms

Homozygous both alleles are the same.

PP homozygous dominant purple flowers. pp homozygous recessive white flowers.

Heterozygous two different alleles.

Pp heterozygous, shows dominant, purple color.

Genetic Terms

Genotype the alleles that are actually present.

PP, Pp, pp

Phenotype the physical appearance of the organism.

Purple or white flowers.

Genetic Terms

Monohybrid cross crossing two individuals that are heterozygous for one particular trait.

Pp X Pp

Dihybrid cross crossing two individuals that are both heterozygous for two separate traits.

YyTt X YyTt

The Testcross

Given a purple flowered pea plant with unknown parents, we will cross it to a homozygous recessive (white) individual to determine its genotype.

The Law of Independent Assortment

Following two traits at once:

Yellow (Y) vs. green (y) Tall (T) vs. short (t)

Cross true-breeding yellow, tall (YYTT) with true-breeding green, short (yytt) to get F1 individuals that are dihybrids (het for both traits YyTt).

The Law of Independent Assortment

Each pair of alleles separates independently of other pairs during gamete formation.

At least as long as the pairs of alleles are on separate chromosomes.

Mendel was fortunate to have chosen a simple system for study. In reality, there are a number of complicating factors.

The Spectrum of Dominance

The traits that Mendel examined showed complete dominance.

The heterozygotes looked just like homozygous dominant individuals.

The Spectrum of Dominance

Codominance occurs when both alleles affect the phenotype in separate, distinguishable ways.
Both phenotypes are expressed. Not an intermediate. AB blood types

The Spectrum of Dominance

In incomplete dominance, the phenotype of a heterozygote appears to be intermediate to, or distinct from, the homozygous dominant and homozygous recessive conditions.

Multiple Alleles

Most genes actually have more than two different alleles.

Human Blood Type 3 different alleles.

I A, I B,

i I AI A, I A i I BI B, I B i I AI B ii

Type A blood Type B blood Type AB blood Type O blood


Pleiotropy is a property where a gene has more than one effect on the phenotype of an organism.

The gene that causes sickle cell disease also conveys some resistance to malaria.


Epistasis (from the Greek word for stopping) one gene can alter the phenotypic expression of another gene.

Polygenetic Inheritance

Polygenetic inheritance - Some traits have more than one gene contributing to a phenotype like skin color in humans.

Alleles have a cumulative effect.

Environmental Effects

Some traits can be affected by the environment.

Exposure to sunlight affects skin color in humans. Nutrition affects height in humans. Soil acidity affects color in hydrangea flowers.

Mendel & Modern View of Heredity

Mendels fundamental principles of heredity can be expanded to understand the more complex issues. These principles can be applied to any living organism.

The Chromosomal Theory of Inheritance

Genes have specific positions (loci) on chromosomes.

Chromosomes undergo independent assortment and segregation.

Sex-Linked Genes

Genes located on the sex chromosomes (X or Y usually X) are called sex-linked genes.

Fathers pass on a sex-linked genes only to daughters (sons only receive the Y).

Sex-Linked Genes

Color-blindness is a sex-linked trait in humans.

Much more common in males.

Males only need to inherit one recessive allele Females need to inherit two one from each parent.

Experimental Evidence

T.H. Morgans experiments provided the first evidence of the association between a specific gene & chromosome.

Experimental Evidence

White eyes in fruit flies are recessive to red eyes. White eyes found only in males in F2 Eye color gene located on X chromosome.

Autosomal Linkage

Linked genes are located close together on the same chromosome.

They are usually inherited together. They do not follow the rule of independent assortment!

Linked Gene Experiment

Two recessive mutant traits:

Black rather than grey bodies Vestigial rather than normal size wings Grey, normal wings Black, vestigial wings

Parental phenotypes:

Linked Gene Experiment

Testcross produced mostly the parental phenotypes.

Linked Gene Experiment

Some non-parental phenotypes were produced. Genetic recombination Crossing over explains how this happens.

Linkage Mapping

A genetic map of the sequence of genes on a chromosome can be made using the frequency of recombination data for a number of traits.

Crossing over more likely to separate genes that are further apart.

Alterations in Chromosome Number

Errors in meiosis or mitosis may lead to one extra or one less chromosome.

This is called aneuploidy.

Trisomic 3 copies of a chromosome Monosomic only 1 copy

If the organism survives, it usually has symptoms relating to the increase or decrease in proteins coded for by the extra (or missing) chromosome.

Alterations in Chromosome Number

Euploidy An addition or deletion of a whole set of chromosomes. Polyploidy is the condition where there are more than 2 complete sets of chromosomes.

Triploid 3 sets Tetraploid 4 sets Common in plants Having an entire extra set is not as detrimental as having one extra chromosome.

Alterations of Chromosome Structure



gene product

phenotypic expression

Gene products = proteins

Beadle & Tatums experiments using bread mold led to the idea that one gene produces one enzyme. Todays version: a nucleic acid sequence (usually DNA) that encodes a functional polypeptide or RNA sequence.

Nucleic Acids

DNA and RNA both built of nucleotides containing

Sugar (deoxyribose or ribose) Nitrogenous base (ATCG or AUCG) Phosphate group

Nitrogenous Bases

Nitrogenous bases can be double ringed purines or single ringed pyrimidines.

Nitrogenous Bases

A purine will always pair with a pyrimidine.


The phosphate group and sugar make up the backbone of the DNA molecule.


The DNA backbone:

Phosphate groups and pentose sugars.

The 5' end of each strand has a free phosphate group attached to the 5' carbon of the pentose sugar. The 3' end has a free hydroxyl group attached to the 3' carbon of the pentose sugar.


DNA consists of two complementary chains connected by hydrogen bonds.



DNA synthesis occurs in the 5' to 3' direction in both strands. The DNA strands are antiparallel

5' end of one is associated with the 3' end of the other.

The DNA ladder is twisted into a double helix

Ten base pairs occur per turn.


RNA exists as a single polynucleotide chain.

Ribose Uracil

DNA Replication

DNA must replicate itself prior to cell division. Enzymes are responsible for each step of replication, including proofreading. The helix unwinds, separates, and each half acts as a template for the formation of a new complementary strand.

Reaction catalyzed by DNA polymerase.

Gene Expression

Gene expression the use of information in DNA to direct the production of particular proteins.
Transcription first stage of gene expression. A messenger RNA (mRNA) is synthesized from a gene within DNA. Translation second stage mRNA is used to direct production of a protein.

DNA Coding

DNA codes for the sequence of amino acids in a protein. A codon is three base-pairs long and is a segment of mRNA that codes for an amino acid.


Messenger RNA (mRNA) transcribes the DNA and transports it out of the nucleus.


Before leaving the nucleus, segments of mRNA called introns are removed and the exons are spliced together.

Exons contain the information coding for the protein that will be synthesized.

Transcription Review

Translation occurs on ribosomes outside the nucleus. mRNA attaches to a ribosome and protein synthesis begins.


Transfer RNA (tRNA) collects free amino acids from the cytoplasm and delivers them to the polysome (mRNAribosome complex) where they are assembled into a polypeptide.

tRNA has a triplet the anticodon that is complementary to the codon of mRNA.

Translation Review

Regulating Gene Expression

Cells control the expression of genes by saying when they are transcribed, not how fast. Some regulatory proteins block the binding of the polymerase, and others facilitate it.

Storage and Transfer of Genetic Information


of Gene Expression in


tissues differentiate, they use only a part of the genetic instruction present every cell. In a particular cell or tissue most genes are inactive at any given moment.

Gene Mutations

Gene mutations result in an alteration of the sequence of bases in the DNA.

Harmful Neutral Beneficial

The Importance of Genetic Change

Evolution begins with alterations in the genetic message.

Mutation creates new alleles Gene transfer alters gene location Recombination shuffles these changes Chromosomal rearrangement alters the organization of entire chromosomes.

The Importance of Genetic Change

Changes that result in the organism leaving more offspring are often preserved. Other changes result in fewer offspring these changes are usually lost. Genetic changes can only be inherited if they occur in germ-line tissue!

The Importance of Genetic Change

Genetic change through mutation and recombination provides the raw material for evolution.