Final Exam pt. 2 (from computer notes) Flashcards
True or False: the environment can modify the expression of phenotypes?
True.
In the mid-1900s, many scientists assumed proteins carried the information for inheritance, why?
Because of the greater complexity of proteins as compared to nucleic acids. Proteins have a much more varied 3-D structure as compared to the relatively uniform structure of DNA
What is the One-Gene-One-Enzyme hypothesis?
The first hypothesis surrounding genetics that each gene coded for a particular enzyme
What is the definition of a gene?
A unit of heredity on a chromosome that contains either:
1. The code for a protein molecule or one of its parts
2. The code for structural RNA molecule such as tRNA or rRNA
What is the One-Gene-One-Protein hypothesis?
The intermediate hypothesis of the idea that genes can code, not only for enzymes, nut also for types of proteins
What is the One-Gene-One-Polypeptide hypothesis?
The most recent hypothesis where some genes code for just of one the several polypeptides that make up a functional protein
In addition to genes that code for mRNAs, it was realized some genes code for structural ____
RNAs such as tRNAs and rRNAs
What is a mutation?
It is a permanent heritable change in genetic materal
True or False: mutations are the only source of new alleles?
True
What are the factors supplying variation in populations upon which natural selection can act?
o Independent assortment
o Recombination
o Mutations
o Random fertilization
True or False: Mutations are normally common events and exert little to no immediate effect on allele frequencies in populations?
False: Mutations are normally rare events and exert little to no immediate effect on allele frequencies in populations. But over evolutionary time scales, they are significant, as mutations have been accumulating for millions of years in all biological lineages
In many animals, mutations must affect cells in the _______ to be passed on to subsequent generations
Germ line
Somatic mutations do not have evolutionary significance in animals unless..?
It’s an animal capable of reproducing by cloning
Why do somatic mutations have a greater evolutionary significance in plants?
Because so many plants can reproduce vegetatively
True or False: Mutations are random events (unpredictable)?
True
True or False: all mutations are harmful?
False: Most mutations are harmful, but occasionally a beneficial one occurs
How do species reduce mutations?
Most species have mechanisms to repair damaged DNA, these mechanisms greatly reduce the prevalence of mutations
True or False: Mutations can occur both during DNA replication and after replication
True
What kind of mutation is a point mutation?
A small scale mutation
Describe point mutations
- Affects only one base pair in DNA
- They are base substitution mutations
- An incorrect base is submitted which then results in a change in the base sequence on both strands
What are the types of point mutations
- Silent mutations
- Missense mutations
- Nonsense mutations
- Deletions/insertions
Describe silent mutations
- If the amino acid coded for by a substitution is the same as the one coded for by the original codon
- This can happen because of the degenerate nature of the genetic code (i.e., more than one codon can code for the same amino acid)
- Silent mutations are also neutral mutations because the function of the encoded protein is not affected by the mutation
Describe missense mutations
- A base substitution
- Causes a change in a single amino acid in the encoded polypeptide
- This could also be a neutral mutation if there is no alteration in function of the encoded polypeptide
- Some have a dramatic deleterious effect on the function of the encoded protein
Describe nonsense mutations
- A substitution which converts a normal codon to a stop codon. This will cause translation to stop before the complete polypeptide encoded for by the normal allele is synthesized
- Results in a shortened polypeptide
- Very unlikely this shortened polypeptide will be functional
Describe deletions/insertions
- Addition or deletion of a nucleotides in a gene
- Results in a frameshift mutation
- Mutation shifts the reading frame on mRNA resulting in a completely different amino acid sequence on the polypeptide
- The seriousness of this type of mutation depends one where it occurs in the gene
- Less severe if one complete codon is added or deleted because this will not upset the reading frame downstream from the mutation.
What are the two possibilities that genes can code for?
- Messenger RNAs which code for proteins
- Functional RNA such as transfer RNAs and Ribosomal RNAs
What is the flow of gene expression?
DNA codes for mRNA (transcription) –> mRNA codes for proteins (translation) –> Proteins do not code for DNA or RNA
What is the role of helicase?
- DNA helicase unwinds the double helix by breaking H-bonds between the complementary nitrogenous base pairs in the rungs between the two strands
- This allows the two parental template strands to separate from each other
- As DNA helicase does its work, it causes the DNA double helix to twist more tightly in front of the moving replication fork
What is the role of topoisomerase (gyrase) and single-stranded binding proteins
- Alleviates the tightened coiling in front of the replication fork caused by helicase
- Breaks, swivels, and rejoins the DNA strands ahead of the moving replication fork, easing the tension
- Separated strands are prevented from coming together again behind DNA helicase by single-stranded binding proteins which bind to each separated parental strand
What is the role of primase?
- Synthesizes a short RNA primer to initiate a new DNA strand
- Builds an RNA primer in the 5’ to 3’ direction, the primer is antiparallel to the parental template strand, and it does have an exposed 3’ end
- Primase must remove the single-stranded binding proteins from the template strand before it can make the primer
- So initially, at a replication fork, primases make an RNA primer along each of the exposed parental template strands towards the expanding replication fork beside the leading strand template and away from the expanding replication fork beside the lagging strand template
- Once the primer is completed, primase detaches from the template strand and a DNA synthesizing enzyme called polymerase III attaches to the exposed 3’ end of the RNA primer
What is the role of ligase?
- Completes the covalent phosphodiester bond of the sugar-phosphate backbone that will repair the nick left by DNA polymerase I
- Then releases and leaves
- Adds nucleotides to a daughter strand that are complementary to the nucleotides on the parental template strand according to the AT/GC rule
DNA synthesis involves the formation of newly replicated DNA strands according to what rule?
The AT/GC rule
What were the three proposed models of DNA replication?
- Conservative mechanism
- Semiconservative mechanism
- Dispersive mechanism
What was the conservative mechanism in terms of DNA replication?
After the 1st replication of the two DNA molecules produced, one retains the two old parental strands, and the other is made up of the two newly synthesized replicated strands
What was the semiconservative mechanism in terms of DNA replication?
- Involves the complete separation of the two parental strands, which allows each parental strand to act as a template directing the synthesis of new complementary replicated strands
- The 1st replication results in two new DNA molecules, each with one old parental and one new replicated strand
What was the dispersive mechanism in terms of DNA replication?
The 1st replication results in both strands in each of the two DNA molecules produced made of segments of new DNA interspersed between segments of the old parental DNA
Which mechanism for DNA replication was found to be correct?
Experimental results supported the semiconservative mechanism model of DNA replication
Define epistasis
Epistasis is an interaction between two or more genes to control a single phenotype
In epistasis, alleles of one gene can ____ the expression of the alleles of another gene, with that come expected phenotypes will not appear among the offspring
Mask
Using planned crosses to study patterns in human inheritance is not possible, why?
Because mating can’t be controlled, and offspring sample sizes are too small. Also, human generation times are very long
Define/describe a pedigree chart
- Used to determine if a human trait is dominant or recessive and, also, if it is autosomal or X - Linked
- Is a family tree that displays members of a family affected by a genetic trait controlled by a single gene
- Used to track the inheritance of rare genetic diseases in humans
Describe the legend components of pedigree charts (what each symbol represents)
- Roman numerals stand for a generation in the family tree, digits stands for an individual
- Circles represent females, squares males
- Darkened circles/squares indicate an individual affected by the studied trait.
- Horizontal lines are used between a mated male/female pair
- A heterozygous individual may not be indicated or are indicated by ½ shading of the inside of a circle or square.
True or False: expected Mendelian ratios are not necessarily observed in individual human families because of small sample sizes
True
What is the common first step in analyzing whether the mode of transmission of a deleterious allele is autosomal or X-linked?
Determining whether males are most severely affected by the genetic disease.
Describe multiple alleles
When some genes have three or more alleles
What is a common example of a situation of multiple alleles
The human ABO blood group is an example of a trait controlled by a gene with three alleles, I^A, I^B, and i.
* I^A and I^B alleles are dominant to i
* A blood type is produced by I^AI^A and I^Ai
* B blood type is produced by I^BI^B and I^Bi
* AB blood type is produced by I^AI^B
* O blood type is produced by ii
Define codominance
Alleles have approximately equal effects in individuals making alleles equally detectable in the phenotypes of heterozygotes
What is the difference between codominance and incomplete dominance?
Codominance differs from incomplete dominance in those heterozygous individuals express both alleles simultaneously without any blending
Define incomplete dominance
- Incomplete dominance can occur because neither of the two alleles is fully dominant over the other
- This results in a phenotype in heterozygotes that is different from the phenotypes of both homozygotes, appearing to be a mixture intermediate between those of the two
Describe Testcrosses
- A cross involving an individual that shows a dominant phenotype but there is uncertainty about its genotype with another that is homozygous recessive for the trait being considered
- Testcrosses are also used to determine if two genes involved in a dihybrid cross are on the same chromosome or on different chromosomes
Describe blending inheritance
- Parents make equal genetic contributions to their offspring and that their genetic materials blend in their offspring
- Inherited traits of offspring were determined randomly, from a range bound by the traits found in their parents
- Freely mating populations over a period, should give rise to a genetically uniform population of individuals. Such an outcome is contradicted by every-day observations.
- Blending inheritance also fails to explain reappearing fully developed after skipping one or more generations
What are the factors that influence enzyme activity?
- Temperature
- pH
- Concentration of enzyme and substrates
- Other molecules, like inhibitors and activators
True or False: Proteins/enzymes assemble at high temperatures
False: Proteins/enzymes denature at high temperatures
What is a phototroph?
A type of autotroph, uses sunlight for energy
What is an autotroph?
Gets energy from light or inorganic chemicals
What was the Great Oxygenation Event (GOE)?
- Atmosphere accumulated oxygen over millions of years
- This oxygen was toxic to the anaerobic cells present
- This created one of the great extinctions in the history of the earth, but it also paved the way for eukaryotes
Describe modern day metabolism
- Respiration (catabolic), in the mitochondria (Sugars + O2 ATP + H2O)
- Photosynthesis (anabolic), in the chloroplasts (CO2 + H2O Sugars + O2)
Describe the ancient hypothesis for the start of metabolism
- Deep sea alkaline vents are porous chimneys form by precipitation of calcium carbonate. Warm nutrient rich alkaline vent water encounters acidic ocean water.
- Gradients of H2 create potential energy.
*Free energy from H+ flow used to make ATP
*Evidence of iron-sulfur proteins - Fe-S clusters are enzyme co-factors for Fe-S proteins. Fe-S proteins are crucial in all of today’s energy metabolism. Fe-S cluster bound to peptide chain
- Ancient bacteria pump H+ out of the cell to achieve the gradient. This mechanism still exists in some primitive prokaryotes
What was the likely scenario of abiogenesis?
Habitable world -> probiotic synthesis -> polymers, vesicles -> protocells (aka protobionts)
Describe a reciprocal cross
- Involves a set of mating where the mother’s phenotype in the first cross is the father’s phenotype in a second cross and the father’s phenotype in the first cross is the other’s phenotype in a second cross
- In Mendel’s pea plant crosses it did not matter which sex was providing the allele in the parental generation
what kind of sex determination system do humans have?
The X-Y system of sex determination
Which sex is heterogametic?
Males are the heterogametic sex – produce gamete with two types of sex chromosomes
Which sex is homogametic?
Females are the homogametic sex – produce gametes with only on type of sex chromosome
Which chromosome is larger, Y or X?
X
Which chromosome has more genes on it, Y or X?
X
Sex-linked genes on the X chromosome are said to be ____?
X-linked
The other 44 chromosomes in human cells are referred to as ______?
Autosomes
What is a Barr body?
In the cells of women, one of the X chromosomes is always inactivated to form a Barr body
True or False: it is random which X becomes inactivated?
True
What is the SRY gene?
Sex-determining region of the Y chromosome
All humans have the genes to produce both the male and female reproductive systems, but which system will develop is determined by?
Whether or not the protein produced by the SRY gene is expressed in the somatic cells of the embryo early in the embryo’s development
True or False: the SRY gene is an example of a pleiotropic gene?
True
What is hemophilia?
- The blood does not clot normally
- Women heterozygous for hemophilia are called carriers because they do not suffer from the disease but can pass the disease to their offspring
- Males are most severely affected by genetic diseases associated with genes on the X chromosome
Where and when does DNA replication take place?
Replication of DNA takes place in the nucleus in eukaryotes and in the cytoplasm in prokaryotes; takes place in the S phase of interphase in eukaryotes
Who carried out experiments in 1958 to confirm that DNA replication was semiconservative?
Matthew Meselson and Frank Stahl
What is polygenic inheritance?
Involves two or more genes affecting the outcome of a single trait
Traits subject to polygenic inheritance exhibit ..?
Continuous variation over a range of phenotypic expression
Phenotype in a population tends to have a normal ______ curve of continuous variation distribution pattern
Bell-shaped
What are some examples of human polygenic features?
Height
Weight
Skin colour
What kinds of effects during infancy and childhood can influence height in a population?
Nutrition and disease
True or False: Environmental factors typically can influence the expression of the phenotype in polygenic inheritance?
True
True or False: many different genotypes can produce the same expressed phenotype
True
True or False: alleles in polygenic inheritance so not have any additive effects?
False: there are additive effects of alleles in polygenic inheritance
Describe Sickle Cell Anemia
- The recessive deleterious allele for sickle cell anemia affects the structure of human hemoglobin molecules inside red blood cells
- Red blood cells in individuals homozygous for the recessive abnormal allele will develop a sickle shape when the cells enter the lower dissolved O2 levels within tissue capillaries
- Sickle cell disease has wide ranging pleiotropic effects on the human body
Define pleiotropy
The determination of several seemingly unrelated phenotypic traits by a single gene in a multicellular organism
The underlying mechanism of pleiotropy is that the pleiotropic gene codes for 1. _____ or 2. _____
- Product that is used in more than one cell type
- The product of the gene has a signaling function on various target cells (i.e., gene that codes for the insulin receptor protein on cell membranes)
True or False: Most single genes affect more than one observable trait
True
True or False: In humans a deleterious allele in just one gene will never cause widespread problems throughout the body
False: in humans a deleterious allele in just one gene can cause widespread problems throughout the body