Inheritance

Mendel’s Principles of Inheritance

 Blending inheritance: genetic material in sperm and eggs fused and formed a new
substance each generation.
 Inheritance of acquired characters: changes in an organism’s phenotype were acquired
due to events that occurred during its lifetime. These phenotype changes would be
passed on to offspring.

Mendel’s Garden Peas:

1. He crossed individuals with different traits. He crossed true-breeding parents (From a
lineage that only expressed one version of a trait). Each parent only had information for
making one version of the trait.
2. He grew seeds produced by this mating and recorded the phenotypes of the offspring (F 1
generation or first-filial).
3. He mated F1 individuals at random, grew the resulting seeds, and recorded the
phenotypes of the offspring (F2 generation).
4. He repeated these steps with different parents and 7 different traits.

 When Mendel recorded the phenotypes of the F1 generation across all of the iterations
of all the traits he was studying, one of the traits seemed to disappear.
o Ex. In the crosses between purple-flowered and white-flowered parents, all of
the F1 offspring had purple flowers.
o This data didn’t provide anything for the blending inheritance hypothesis or the
inheritance of acquired characters hypothesis.
 However, the traits that disappeared in the F1 generation returned to the F2 offspring.
o The phenotype reappeared in about 25% of the offspring.

 Key Insight 1 (Particulate Inheritance): Genes don’t blend. They maintain their physical
integrity and, thus, the integrity of their information. This explained the reappearance of
some traits.
 Key Insight 2: Each pea plant has two copies of the genetic information for each trait
(Alleles). This explained why F1s (Purple flowers) could pass along the information for
making white flowers in F2s.
 Key Insight 3 (principle of Segregation): The two copies of the genetic information
present in a parent separate from each other when sperm and eggs form. Each sperm
and each egg carry one copy of the genetic information for each trait (One allele of each
gene). Half the sperm in F1 had the allele for white flowers while the other half had the
allele for purple flowers. When sperm and egg came together, 75% of the offspring had
at least one copy of the information for purple flowers while 25% didn’t (They got
information for white flowers and no information for purple flowers).
 Key Insight 4: Some gene versions are recessive to the dominant ones. If an individual
had two copies of the recessive allele of a gene, it had the phenotype associated with
the recessive allele.
  Homozygous: two copies of the same allele at a gene.
 Heterozygous: two different alleles at a gene.
 Dominant: if heterozygotes only show the phenotype associated with one allele.
 Recessive: the other allele present in the heterozygote whose phenotype does not show.

Punnett Square:
1. Start with notation for the gene and alleles in question (Ex. Capital A for the dominant
allele and lowercase a for the recessive allele).
2. Draw a chart or table. The number of rows and columns equals the number of unique
genotypes in the gametes from each parent (If the mother has the genotype Aa, she
would make equal numbers of A and a eggs).
3. To predict offspring genotypes, you fill in the table's cells with the gamete from each
column and each row.
4. Summarize the predicted results by listing the offspring genotypes and giving either their
frequencies or their relative abundance as a ratio.

 Example: Aa mother x AA father (Egg: ½ A, ½ a)(Sperm: all A). Frequencies: ½ Aa, ½ AA

(1:1 ratio).

2-Trait Experiments:
1. Parents were homozygous for either two dominant traits or two recessive traits. He
crossed homozygous parents for the dominant round-seeded and yellow-seeded alleles
with homozygous parents for the recessive wrinkle-seeded and green-seeded alleles.
2. He recorded the phenotypes observed in the F1 offspring and then crossed the F1s at
random.
3. He recorded the phenotypes observed in the F2 offspring.

 Two hypotheses: alleles from different genes are physically linked, so they will segregate
into gametes together, or they are not physically linked, so the alleles from different
genes would fit into gametes independently of each other (Independent assortment).

 R: allele for round seeds.

 R: allele for wrinkled seeds.
 Y: allele for yellow seeds.
 Y: allele for green seeds.
  Mendel concluded that alleles from different genes go into gametes independently of
each other. This is the principle of independent assortment.
o Two alleles of each gene present in a parent separate from each other before
gamete formation. One allele goes into each sperm or egg. The parent is diploid,
and the gametes produced are haploid (Principle of Segregation).
o Alleles of different genes assort independently of each other, meaning that an
allele of one gene can end up with any allele of other genes when gametes form
(Principle of Independent Assortment).

 Genes are found on chromosomes (Chromosome Theory of Inheritance).

 During meiosis I, homologous chromosomes line up in the middle of the cell and then
separate into different daughter cells, before gamete formation.

In-Class Notes:
 True breeders get the same phenotype every time since they are homozygous.
 Phenotype: what something looks like (Phenotype = Physical).
o The environment can change it.
 Genotype: hereditary information in the actual DNA sequence (Genotype = Genes).
o Heterozygous – two different alleles.
o Homozygous – two of the same traits.
 Segregation of alleles makes gametes have different alleles (YY and yy parents would
make a Yy offspring).
 Phenotypic ratios separate physical traits while genotypic ratios separate heterozygous
and homozygous alleles.
 Each diploid individual had two alleles for each gene. Each gamete is haploid and gets
one allele for each gene. It cannot have two of the same letters.
 Column and arrows method for multiple gene crossings.
 Independent assortment: each pair of alleles of a gene segregate independently of each
other pair of alleles of a different gene.

Probability and Patterns of Inheritance

 Mendel worked with populations that had just two alleles of each gene. However, most
large populations have many alleles for each gene.
 Mendel studied alleles that had a simple recessive-dominant relationship, yet this is
rare. Most alleles are co-dominant, meaning that heterozygous individuals express the
phenotype associated with both alleles.
 Recessive alleles are associated with the loss of function of the gene products they
encode. In heterozygotes, though, one allele that codes for a functional enzyme can
produce enough growth hormone that individuals have the dominant phenotype.
Hence, that allele is dominant.
 If someone is homozygous for recessive alleles that produce proteins with extremely low
or no function, the condition is fatal.
  Sex-determination systems are extremely variable. In humans, one chromosome in each
haploid set is associated with the individual's sex. These are called X and Y. Females are
XX and males are XY.
 X and Y are called sex chromosomes. The other 22 are termed autosomes. Genes found
on sex chromosomes are referred to as sex-linked genes.
 Even though the X and Y chromosomes are different sizes and contain different genes,
they act like homologs during meiosis. X and Y synapse at the start of meiosis I, go to the
middle of the cell together, and pull apart into separate daughter cells at the end of
meiosis I.
 Life scientists often use special notation to indicate that a gene is on the X chromosome.
 When you are doing crosses involving X-linked traits, it’s important to report the
predicted genotypes and phenotypes separately for males and females.

 Linked genes: genes that are found on the same chromosome.

 T and t for height and R and r for seed shape. A gamete genotype with both dominant
alleles would be written TR; a gamete genotype with both recessive alleles would be
written tr. To write a parental or F1 genotype, where two copies of each chromosome
are present, you would write TR//tr.

 The principle of independent assortment only happens sometimes. It is correct for genes
that are located on different chromosomes, but genes located on the same chromosome
do, in fact, segregate gametes together.

Vocab List:
 Wild type: the typical or most common version of allele or phenotype, as opposed to
novel, unusual, or low-fitness forms.
 Co-dominant alleles: heterozygotes have the phenotype associated with both alleles.
 Loss-of-function alleles: alleles that lead to a protein or RNA product that cannot
function normally or is completely absent.
 Sex chromosome: associated with the sex of the individual.
 Autosome: any chromosome that is not a sex chromosome.
 Sex-linked genes: genes found on a sex chromosome.
 Linked gene: genes found on the same chromosome.

Polygenic Inheritance and Pedigrees

 Histograms can show that many traits do not occur in discrete states.
 Traits that show continuous and normally distributed variation instead of discrete states
are called polygenic traits.
o Many different genes influence polygenic traits. These traits often have a wide
range of phenotypes that are normally distributed.
  The polygenic model is based on two claims: many genes are involved, and the effects of
each allele contribute to the trait sum (Effects add up).
o Example with wheat kernel color: Just three genes contribute to the redness of
wheat kernels. There are just two alleles at each gene. One allele contributes
nothing to redness and the other contributes a single redness dose. The genes
assort independently, meaning that they are on different chromosomes or are so
far apart that crossing over always occurs. Therefore, every combination of
alleles is possible in gametes.
o Alleles of many genes, each with a relatively small average effect, can contribute
to a single trait.
 Herman Nilson-Ehle crossed the F1s together and recorded the phenotypes of their
offspring (White and red kernel example). The Punnett square that predicts the F 2
phenotypes only shows how many redness alleles are present.

Understanding which genes contribute to polygenic diseases in humans would help in three
areas:
1. Identifying potential drug targets.
2. Early detection of disease.
3. Drug selection.
 Researchers study a large group of individuals who are members of the same
population, making them relatively similar genetically, making the disease allele stand
out among people without it. Then, they genotype the individuals throughout the
genome. The most common markers are single-nucleotide polymorphisms (SNPs). Lastly,
they will analyze the genotypes to test whether certain markers are associated with the
diseased state.
o Genome: Entire collection of genes in an individual.
o Loci: individual locations (Singular is Locus).
 Human height studies suggest that as many as 2500 genes are involved. People who
have the same height can have very different sets of alleles. Non-genetic factors also
play a role. The variation observed among people in polygenic traits like height is about
50% due to variation in genotype and 50% due to variation in the environment that each
person has experienced.

 To track historical information on the incidence of phenotypes in a family, researchers

can use a type of diagram called a pedigree.
o Researchers who are investigating poorly understood genetic diseases can use
pedigrees to infer how the traits are inherited. Phenotypes due to autosomal
recessive alleles show a different pattern of inheritance than phenotypes due to
autosomal dominant alleles.
 o Genetic counselors can use information on the family history of a specific disease
to advise individuals who intend to have children about the risk of those
offspring having the disease phenotype.
 Pedigrees use the following conventions:
o Generations are shown as rows, with the oldest individuals at the top.
o Males are indicated with squares and females with circles.
o Two individuals that reproduce are connected with a horizontal line.
o Generations are connected with vertical lines.
o Individuals with the phenotype of interest are shown with filled shapes.

General Trends:
 The loss-of-function alleles that are located on the X chromosome are rare. It is more
common in males because they only have to have one copy of the recessive allele to
have the recessive phenotype. The occurrence of X-linked recessive phenotypes tends to
skip a generation. This is because half of a female’s male offspring will be affected.
 Autosomal dominant phenotypes show up in every generation. Every offspring with the
phenotype must have had a parent with the trait. There is no sex bias, as the gene is
autosomal (Both males and females are equally likely to have it).
 Males and females are equally likely to have an autosomal recessive trait, and
individuals with the phenotype must be homozygous. An offspring with the phenotype
can have parents who are not affected. Both parents were heterozygous (Carriers of the
trait) and didn’t show the phenotype, but they passed on the recessive allele to their
offspring. The phenotype is typically rare and almost all affected offspring will have
unaffected parents.

In-Class notes:
 Multiplication rule: the probability that two or more independent events will occur
simultaneously is the product of their individual probabilities (AND).
 Addition rule: the probability that either of two independent events that cannot occur at
the same time is the sum of their individual probabilities (OR).
 Incompletely dominant: combines the two traits (Ex. Red/white combine to make pink).
 Co-dominant: both traits are present (Ex. Red/white pattern).
 In epistasis, one gene affects the phenotype of another due to the interaction of their
gene products. The ABO blood group is one set of blood antigens. There is a separate
locus (H) that controls the production of these antigens. Individuals who are
homozygous, hh, cannot produce antigens of the ABO type and appear to be O-type.
 Tay-Sachs disease is fatal (A dysfunctional enzyme causes an accumulation of lipids in the
brain).
o Organismal: unaffected allele is completely dominant.
o Biochemical: the phenotype is incompletely dominant.
o Molecular: the alleles are codominant.
 Dominant alleles are not necessarily more common in populations than recessive alleles.
 Most genes have multiple phenotypic effects, a property called pleiotropy.
 Quantitative characters are those that vary in the population along a continuum.
 Quantitative variation usually indicates polygenic inheritance, an additive effect of two
or more genes on a single phenotype.
 Traits that depend on multiple genes combined with environmental influences are called
multifactorial.
 Recessively inherited disorders show up only in individuals homozygous for the allele.
 Carriers are heterozygous individuals who carry the recessive allele but are
phenotypically normal.

 Female: XX in diploid gametes (Contains 1100 X-linked genes). Male: XY in diploid

gametes (Contains 78 Y-linked genes). SRY gene on the Y chromosome codes for a
protein that directs the development of male anatomical features.
 X-Y system (Female XX, Male XY), X-0 system (Female XX, Male X), Z-W system (Female
ZW, Male ZZ), Haplo-Diploid system (Female diploid, Male haploid).
 X chromosome is much larger than Y (Encodes more genes).
 Most genes on the X chromosome have no counterpart on the Y chromosome. A
recessive mutation in an X-linked gene is expressed in males; Most X-chromosome genes
are unrelated to sexual traits.
 One of the two X chromosomes in each cell is randomly inactivated during embryonic
development (X-inactivation). This will condense into a Barr body.
o The entire chromosome gets covered in XIST (X-Inactive-Specific-Transcript).
o No genes are expressed from this X chromosome in the cell.
o In a neighboring cell, the opposite X chromosome may be inactivated.
o If a female is heterozygous for a particular gene located on the X chromosome,
she will be mosaic for that character.
 Large-scale chromosomal alterations in humans often lead to miscarriages or cause a
variety of developmental disorders. Plants tolerate genetic changes better than animals.
 Meiotic nondisjunction: chromosomes don’t separate properly, so the daughter cells
either have too many or too few chromosomes/chromatids.
 Aneuploidy results from the fertilization of gametes in which nondisjunction occurs.
o Offspring have an abnormal number of a particular chromosome.
o A monosomic zygote has only one copy. A trisomic zygote has three.
 Polyploidy is a condition in which an organism has more than two complete sets of
chromosomes. This is common in plants. They are more normal in appearance.
o Triploidy: three sets of chromosomes.
o Tetraploidy: four sets of chromosomes.
 Translocation: Moves a segment to a nonhomologous chromosome.
 Deletion: Removes a chromosomal segment.
 Inversion: Reverses a segment within a chromosome.
 Duplication: Repeats a segment.
 Autosomal dominant: Equal trait distribution; at least one parent has the trait.
 Sex-linked recessive: most are male; possibly neither parent has the trait; females with
the trait always have male offspring with the trait.
 Trains with continuous variation typically have polygenic inheritance. When graphed, the
phenotypic distribution of these traits follows a normally distributed curve.