Chapter 14: Mendel and the Gene
Gregor Mendel’s Contribution to Genetics
Gregor Mendel is known as the father of genetics. He was the first to study
how traits are inherited from one generation to the next. He used pea
plants to explore inheritance patterns. His key contributions were:
Law of Segregation: Every individual has two copies of each gene,
one from each parent. These copies "segregate" (separate) during
reproduction, so each parent passes only one copy to their offspring.
Law of Independent Assortment: Different genes are inherited
independently of each other. This means that the inheritance of one
trait (like flower color) doesn’t affect the inheritance of another trait
(like seed shape).
Key Terms in Genetics
Punnett Square: A tool used to predict the possible genetic outcomes
in offspring from a specific cross.
Monohybrid Cross: A genetic cross that looks at the inheritance of a
single trait (e.g., flower color).
Dihybrid Cross: A genetic cross that looks at two traits at once (e.g.,
flower color and seed shape).
Gene: A section of DNA that controls a specific trait (like eye color).
Allele: Different versions of a gene (e.g., blue or brown for eye color).
Phenotype: The physical expression of a gene (e.g., brown eyes).
Genotype: The genetic makeup of an individual (e.g., Bb or BB for eye
color).
Homozygous: Having two identical alleles for a gene (e.g., BB or bb).
Heterozygous: Having two different alleles for a gene (e.g., Bb).
Dominant: An allele that will show its trait even if only one copy is
present (e.g., the "B" allele for brown eyes).
Recessive: An allele that only shows its trait when two copies are
present (e.g., "b" for blue eyes).
Parental Generation: The first set of parents in a genetic cross.
F1 and F2 Generations: The offspring of the parental generation (F1)
and the next generation (F2).
Polygenic Inheritance: When multiple genes control a trait (like skin
color or height).
Qualitative Traits: Traits that can be categorized (e.g., flower color:
red or white).
Quantitative Traits: Traits that vary in degrees (e.g., height, weight).
Complete Dominance
This occurs when one allele completely masks the effect of the other. For
example, if a "B" allele (dominant) for brown eyes is paired with a "b" allele
(recessive) for blue eyes, the person will have brown eyes because brown is
dominant.
X-Linked Inheritance
X-linked inheritance refers to traits that are carried on the X chromosome.
Since men have one X and one Y chromosome, they are more likely to
express X-linked disorders because they only have one X chromosome.
Women, with two X chromosomes, can be carriers if they have one affected X
chromosome but may not show the disorder.
Human Genetic Disorders
Recessive Disorders: These are disorders that only show up when a
person inherits two copies of the defective gene (one from each
parent):
o Cystic Fibrosis: A disorder that affects the lungs and digestive
system, causing difficulty breathing and poor digestion.
o Hemophilia: A condition where blood doesn't clot properly,
leading to excessive bleeding.
Dominant Disorders: These disorders show up when a person
inherits just one copy of the defective gene:
o Huntington Disease: A neurodegenerative disorder that leads
to the breakdown of nerve cells in the brain.
o Achondroplasia: A type of dwarfism caused by a mutation in a
gene that controls bone growth.
Gene Expression and the Environment
The environment can influence how genes are expressed. For example, a
person may have the genetic potential for a certain trait (like height), but
factors like nutrition and health can affect how tall they grow. Similarly,
sunlight can influence the expression of skin color.
Transmission of Gene Disorders
Most genetic disorders are inherited through autosomal inheritance,
meaning they are passed down through non-sex chromosomes. They can
follow patterns of dominant or recessive inheritance, depending on the
disorder. X-linked disorders are passed through the X chromosome, so they
affect males more frequently.
Human Gender Determination
Humans have two sex chromosomes: XX for females and XY for males. The
male's Y chromosome determines the gender of the baby, because if the
sperm carries an X, the baby will be female (XX), and if the sperm carries a
Y, the baby will be male (XY).
Sex-Linked Inheritance
This refers to traits or disorders that are carried on the X chromosome.
Since males only have one X chromosome, any gene on that X will be
expressed, whether it is dominant or recessive. Females have two X
chromosomes, so they might be carriers of X-linked disorders without
showing symptoms.
How is Hemophilia Transmitted?
Hemophilia is an X-linked recessive disorder. It is more common in males,
who only have one X chromosome. Females can be carriers if they inherit
one affected X chromosome, but they usually don’t show symptoms because
they have a second, healthy X chromosome. If a male inherits the affected X
from his mother, he will have hemophilia.
Chapter 17
1) Protein Synthesis
Protein synthesis is the process by which cells build proteins. It happens in
two main stages: transcription and translation.
Transcription: DNA is copied into messenger RNA (mRNA) in the
nucleus.
Translation: The mRNA is used as a template to build a protein at the
ribosome in the cytoplasm.
2) Gene Expression
Gene expression refers to how a gene's information is used to make a
functional product, usually a protein. It involves two main steps:
transcription (copying DNA to RNA) and translation (making a protein
from RNA).
3) Gene Regulator
Gene regulators are proteins or other molecules that help control gene
expression. They can turn genes on or off by interacting with the promoter
region of DNA or the mRNA.
4) Intracellular Receptor
An intracellular receptor is a protein inside a cell that binds to a molecule
(often a hormone) and influences gene expression. For example, steroid
hormones like estrogen bind to these receptors, triggering changes in gene
transcription and protein synthesis.
5) Enzyme Receptor
An enzyme receptor is a protein on the cell membrane or within the cell that
binds to a molecule (like a hormone or neurotransmitter) and causes an
enzymatic reaction inside the cell. This can activate or inhibit pathways that
regulate gene expression.
6) Central Dogma of Molecular Biology
The central dogma explains how genetic information flows in cells:
DNA → RNA → Protein.
It’s the pathway through which information in DNA is used to make
proteins that perform most cellular functions.
7) Codon and Anticodon
A codon is a sequence of three nucleotides (the building blocks of
RNA) in mRNA that codes for a specific amino acid during translation.
An anticodon is a sequence of three nucleotides in tRNA that pairs
with the mRNA codon, ensuring the correct amino acid is added to the
growing protein chain.
8) Where Protein Synthesis Takes Place (Transcription and
Translation)
Transcription occurs in the nucleus, where DNA is used to create
mRNA.
Translation happens in the cytoplasm, specifically at the ribosome,
where the mRNA is translated into a protein with the help of tRNA.
9) Important Events and Enzymes in Each Stage
Transcription:
o Enzyme: RNA polymerase reads the DNA and builds the mRNA
strand.
o Events: The DNA unwinds, RNA polymerase matches RNA bases
with the DNA bases, and the mRNA is formed and exits the
nucleus.
Translation:
o Enzymes: Ribosomes read the mRNA, and aminoacyl tRNA
synthetase helps attach amino acids to tRNA.
o Events: The ribosome reads mRNA codons, tRNA brings the
corresponding amino acids, and a polypeptide chain is formed.
10) mRNA, rRNA, and tRNA in Protein Synthesis
mRNA (messenger RNA): Carries the genetic instructions from DNA in
the nucleus to the ribosome for protein synthesis.
rRNA (ribosomal RNA): Makes up part of the ribosome and helps
facilitate the translation of mRNA into protein.
tRNA (transfer RNA): Delivers the correct amino acids to the ribosome
during translation based on the codons in mRNA.
11) DNA vs. RNA
DNA: Double-stranded molecule that stores genetic information. It has
four nucleotide bases: A (adenine), T (thymine), C (cytosine), and G
(guanine).
RNA: Single-stranded molecule involved in protein synthesis. It has A,
U (uracil replaces thymine), C, and G as its bases.
12) Nucleotides in mRNA and Codon Length
mRNA is made of nucleotides, and each codon (group of 3
nucleotides) codes for one amino acid.
13) Intracellular Receptors Regulate Gene Transcription
Intracellular receptors are proteins inside the cell that bind to
signaling molecules (like hormones) and enter the nucleus. Once in the
nucleus, they can bind to DNA and either activate or repress the
transcription of specific genes.
14) Monomers That Join to Produce a Polypeptide Chain
The monomers that join to make a polypeptide (protein) are amino
acids. These amino acids are linked by peptide bonds during
translation.
15) Importance of Mutations in Evolution
Mutations are changes in DNA that can result in different traits. Some
mutations may be beneficial, leading to new traits that help
organisms survive or reproduce better. These beneficial mutations are
passed on to future generations, driving evolution.
16) Role of Chaperonins in Protein Synthesis
Chaperonins are helper proteins that assist newly made proteins in
folding correctly. If a protein doesn’t fold properly, it might not work
correctly, so chaperonins help ensure that proteins take their correct
shape, which is crucial for their function.
Summary
Protein synthesis involves:
Transcription: Making mRNA from DNA in the nucleus.
Translation: Using mRNA to assemble proteins at the ribosome in the
cytoplasm. Key molecules include mRNA (carries instructions), tRNA
(brings amino acids), and rRNA (part of the ribosome). Mutations can
drive evolution, and chaperonins help proteins fold correctly to
function properly.