Genetics Notes
Mendel's Law of Segregation states that a diploid organism passes a randomly selected allele for a trait
to its offspring, such that the offspring receives one allele from each parent.
Mendel’s Law of Dominance states that in a heterozygote, one trait will conceal the presence of
another trait for the same characteristic. Rather than both alleles contributing to a phenotype,
the dominant allele will be expressed exclusively.
Mendel’s Law of Independent Assortment states that the alleles of two (or more) different genes get
sorted into gametes independently of one another. In other words, the allele a gamete receives for one
gene does not influence the allele received for another gene.
In his monohybrid crosses, Mendel found a 3:1 ratio between dominant and recessive phenotypes.
In dihybrid crosses, he found a 9:3:3:1 ratio.
Epistasis - the phenotypic expression of a gene at one locus alters that of a gene at a second locus.
Polygenic Inheritance - an additive effect of two or more genes on a single phenotypic character.
Genes located near each other on the same chromosome tend to be inherited together.
If the genes are not linked the inheritance will follow the dihybrid pattern.
Linked genes are not independently assorted. The phenotypic ratio will be like a monohybrid cross.
Linkage Map is based on recombination frequencies and shows the order of genes along a chromosome,
but not precise locations.
Genomic imprinting occurs during gamete formation and results in the silencing or activating of
expression of a particular allele of certain genes. The imprints are transmitted to all the body cells.
Not all DNA is in the nucleus, there are extranuclear genes or cytoplasmic genes. Mitochondria,
chloroplasts, and plastids in plants contain small circular DNA. Mitochondria is passed on from the
mother. Defects to mitochondrial DNA can cause issues with the electron transport chain.
• Swiss physiological chemist Friedrich Miescher first identified what he called "nuclein" (later
called nucleic acid) inside the nuclei of human white blood cells.
• Levene proposed that nucleic acids were composed of a series of nucleotides, and that each
nucleotide was composed of just one of four nitrogen-containing bases, a sugar molecule, and a
phosphate group.
Griffith and Avery worked with smooth (S) and rough (R) bacteria in mice to show something in the S
strain was transferred to the R strain to make it kill the mice.
• Griffith showed that heat killed S strain did not infect the mice, but when that was mixed with
the R stain it did.
• Avery removed each component step by step to show that DNA was the transforming factor.
Hershey and Chase tagged viral DNA and protein with different radioisotopes and checked which
material was inserted into bacteria.
Chargaff found that the amount of A = T and the amount of C = G (purines and pyrimidines are
nearly equal)
Rosalind Franklin took the X-ray diffraction image of DNA.
After seeing her image Watson & Crick put it together with Chargaff’s rules and other information to
propose the 3D model of DNA.
An operon is a unit of DNA with a cluster of genes under the control of a single promoter. Operon
structural genes are turned on or off together due to a promoter or operator upstream.
The trp operon is repressible. Transcription normally takes place. Corepressors bind to
repressors to activate which results in binding to the operator and prevents transcription.
The lac operon is inducible. The lac operon has three adjacent structural genes (lacZ, lacY,
and lacA), a promoter, terminator, regulator, and an operator.
o RNA Polymerase with CAP binds to the promoter.
o The lacI gene produces a protein that blocks RNA Polymerase.
o Allolactose inhibits the repressor and allows RNA Polymerase to express the lac ZYA
genes until there is no more allolactose.
Histone Modification - Addition or removal of specific chemical groups, such as acetyl (¬COCH3),
methyl, and phosphate groups can regulate gene expression.
DNA Methylation - Enzymes can methylate (usually cytosine) DNA, which inactivates expression.
Methylation patterns are passed on to daughter cells.
Transcription of Coding Genes
Prokaryotes
• RNA Polymerase has two α subunits, β and β’ and σ (sigma factor) for promoter recognition.
• Promoter sequences
• First binds -35 5’-TTGACA-3’
• Then untwists 17 base pairs of DNA around -10 (Pribnow box) 5’-TATAAT-3’
• Elongation occurs at transcription bubble 30-50 nt per second.
• Terminators signal Termination
• rho-dependent uses rho (ρ) protein
• rho-independent - RNA Polymerase detects 16-20 bp sequence upstream of termination
point.
Eukaryotes
• Regulatory Elements up and downstream
• TATA box at -30 helps to indicate start point.
• CAAT box at ~-75 important for initiation
• GC box at -90 (often more than one) and helps bind RNA polymerase to the start point.
• Enhancers and silencers increase or repress transcription.
• RNA Polymerase Transcription Factors
• TFI for RNA Polymerase I, TFII for RNA Polymerase II and TFIII for RNA Polymerase III.
Each TF can have A,B,C, etc
• Some bind DNA and others bind RNA Polymerase
General Transcription Factors
• Essential for the transcription of all protein-coding genes.
• Some bind to the DNA (TATA box)
• Many bind proteins like RNA polymerase
Specific Transcription Factors
• Many activator proteins have DNA binding domains.
• They bind other proteins to assemble and position the initiation complex on the promoter.
• Repressors can bind control elements in DNA or the activator to prevent its binding.
Post-Transcriptional Regulation
RNA Processing, Translation Initiation, mRNA degradation, Protein processing, Protein
degradation
Noncoding RNAs
• The RNAi pathway creates small, interfering RNA (siRNA) that results in gene silencing.
• miRNA – binds to sections of mRNA and target it for degradation.
• Long noncoding RNA – silences part of chromatin.
• Small RNA (sRNA) –found in bacteria to down-regulate translation.
Cell Differentiation - The process of how a cell attains its determined fate.
Morphogenesis
The egg’s cytoplasm, which contains both RNA and proteins encoded by the mother’s DNA, has
the information for development. Signals from the environment also influence development.
Body plan development follows positional information, which is provided by cytoplasmic
determinants and inductive signals.
