The rest: Chapters 6, 7, 10, 11, 12, 13 Flashcards
Sickle cell anemia is caused by:
Recessive gene for malfunctioning hemoglobin
Mendel’s pea plant experiments:
1860s.
Studied 7 characters and traits (variations on characters)
Observed that many traits passed on to offspring unchanged and some were masked then reappeared in later generations
Heterozygote:
An individual with two different alleles of a gene
Test cross results:
If all offspring display dominant trait, unknown must be homozygous
If offspring are half dom half rec, unknown must be heterozygous
Dihybrid:
A zygote produced from a cross involving 2 characters
Dihybrid cross ratio:
9:3:3:1
Mendel’s second law: principle of independent assortment
Alleles of genes that govern different characters segregate independently during gamete formation
Mendel’s first law: law of segregation
Pairs of alleles that control a character segregate as gametes are formed. Half of the gametes carry one allele and the other half carry the other.
Sutton’s chromosome theory of inheritance:
Genes are their alleles are carried on chromosomes.
Parallels between chromosomes and genes:
Both occur in pairs
Both are separated and delivered singly to gametes
Independently assorted
Derived half from mother, half from father
Locus:
The site on a chromosome at which a gene is located
Incomplete dominance definition:
Effects of recessive alleles can be detested to some extent in heterozygotes.
Incomplete dominance notation:
Superscript to denote characters of incompletely dominant genes
Example of incomplete dominance in humans:
Sickle cell:
Heterozygotes will have sickle cell trait, a milder form of sickle cell anemia. Normal allele still produces normal hemoglobin.
Co-dominance:
Both alleles are expressed equally.
Multiple alleles:
Though an individual can only have two alleles, the gene may exist in many forms, caused by slight differences in DNA sequence.
ABO blood types: type, antibodies, accepted types
A - anti B - accepts A, O
B - anti A - accepts B, O
AB - none - accept A, B, AB, O
O - anti A, B - accepts O
Antigen:
Carbohydrate parts of glycoproteins on surface of red blood cells
Epistasis:
The interaction of genes with one or more alleles at one locus masking the effects of one or more others at a different locus.
If E is epistatic to B…
B is dependent on E.
Epistatic ratio:
9:3:4
Polygenic inheritance:
Several genes contribute to the same character
Continuous distribution:
More or less even gradation of character types. Ex: height.
What kind of plot does a quantitative trait give?
Bell curve. Quantitative traits are easily affected by environment. Ex: CHINESE GRANDMOTHERS
Pleiotropy:
A single gene affects more than one character. Ex: sickle cell
Linkage:
Genes are located on the same chromosome - no independent assortment.
Unit of linkage:
Map unit (mu) or centimorgan (cM) - relative unit
If 2 genes are 50 mu apart…
They will assort independently even though they are linked
Can 2 genes be more than 50 mu apart?
Yes, but test results max out at fifty. Distance can still be measured by adding the distances to a gene that lies between them.
Y chromosome has ___ so it can pair with X during meiosis.
A short region of homology
SRY gene:
Sex-determining region of Y.
Gene on Y that controls development toward maleness
After 6-8 weeks of embryonic development, SRY produces a protein that regulates expression of genes for testes. It also secretes hormones to degenerate female structures.
Hemizygous:
Having only one copy of a gene. Males are hemizygous for sex-linked genes.
Inactivation of one X-chromosome:
Since females have double the X but don’t need twice the products…
Expression of male X must be doubled
Expression of female X must be halved
Expression of 1 female X is “turned off”
Barr body:
Inactive, condensed X that is visible in nucleus as a dense mass of chromatin; forms during embryonic development
Who made the first structural model for DNA?
Watson and Crick, those thieving fuckers
DNA as hereditary molecules: Griffith
1928
Smooth S strain with capsule was virulent
Rough R strain without capsule was avirulent
Heat-killed S strain was avirulent
Heat-killed S strain plus live R strain is virulent
Conclusion: R can be converted to S with some factor from dead S cells
DNA as hereditary molecules: Avery
Heat-killed S treated with enzyme that breaks down RNA can still convert R to S
Heat-killed S treated with enzyme that breaks down DNA cannot make R virulent
Conclusion: DNA is the transforming principle
DNA as hereditary molecules: Hershey and Chase
Tagged proteins and DNA with radioactive label
Studied bacteriophages
DNA wins or something
Nitrogenous bases:
Adenine, guanine, thymine, cytosine
Purines:
A and G - carbon and nitrogen
Pyramidines:
T and C - carbon only
Chargaff’s rules:
A=T, G=C
Structures of AGTC
- diagram
At the 5’ end is a ___ group. At the 3’ end is a ___ group.
Phosphate, hydroxyl.
Sugar-phosphate backbone:
Polynucleotide chain of deoxyribose sugars and phosphate group
Each phosphate bridges the 5’ of one sugar to the 3’ of the next
Phosphodiester bond:
The linkage of 2 sugars and 1 phosphate group. Holds sugar-phosphate backbones together.
X-ray diffraction:
X-ray diffracts and exists a crystallized molecule as definite angles, which are visualized on a photographic film
Method of observing positions of atoms and Franklin:
She saw X-shaped diffraction pattern of DNA and deduced that it had a helical structure
Double-helix model of DNA:
2 backbones separated by a regular distance (0.34 nm), the perfect width for a purine and pyramidine to fit together
One full twist is 3.4 nm and contains 10 base pairs
Complementary base-pairing:
Chargaff’s rules.
A and T are stabilized by 2 hydrogen bonds; G and C are stabilized by 3
DNA can only be chemically stable if…
They are antiparallel, with the 5’ of one being complementary to the 3’ of the other
Replication model: semiconservative replication
Parental DNA unwinds and each strand serves as a template for the synthesis of a new molecule.
Results in 2 full helices with one new and one old strand each.
Replication model: conservative replication
2 original parental strands rewind together and the 2 newly created strands separate from template strands and wind up together.
Results in 2 helices, one old and one new.
Replication model: dispersive replication
Original helix splits into double-stranded segments, new double-stranded segments form on the originals, then everything matches up like puzzle pieces
Results in 2 helices with old and new DNA dispersed between.
Proof of semiconservative replication:
1958 Meselson and Stahl
Tagged parental DNA with N-15, a nonradioactive “heavy” isotope
Observed that DNA banding patterns matched only semiconservative model’s results
CsCl forms a density gradient when centrifuged and DNA moves to where it matches density
Kinds of DNA polymerases:
Deoxyribonucleoside triphosphates: substrates for polymerization reaction
Nucleoside triphosphate: nitrogenous base bound to sugar, which is bound to a chain of 3 phosphate groups
Deoxyribonucleoside triphosphate: uses deoxyribose sugar instead of ribose
DNA polymerase shape:
Several polypeptide subunits arranged to form different domains.
Shaped like a human hand: template DNA droops into the groove formed by fingers and thumb. Thumb and fingers close to facilitate binding of incoming nucleotide.
Compare DNA polymerase of bacteria/archaea/eukaryota:
Palm domain is evolutionarily related between; fingers are different for each of the three.
Sliding DNA clamp:
A protein that encircles DNA and binds to rear of DNA polymerase to tether it to the template strand.
Without clamp, polymerase would go away after tens of polymerizations. With it, it hangs on for tens of thousands.
Key molecular events of DNA replication:
Strands unwind.
DNA polymerase adds nucleotides to template chain in 5’ to 3’ direction, antiparallel to the template strand.
Nucleotides are added according to complementary base-pairing rules.
ORI:
A specific sequence on the chromosome where unwinding of DNA begins
DNA helicase:
Brought in by specific proteins bound to ORI to further unwind the strands.
Replication fork:
Y-shaped structure of unwinding DNA
Single-stranded binding proteins:
Proteins that coat the unwound segments to stabilize DNA the prevent them from rewinding
They are displaced when replication enzymes come in
Topoisomerase:
Prevents the yet-to-be-unwound DNA from becoming twisted by cutting, untwisting, and rejoining the double-strand ahead of the replication fork.
RNA primers:
Short chain of RNA nucleotides synthesized by enzyme primase, allowing DNA pmase to add onto the primer’s 3’ end to overcome the issue of DNA only being able to work from 5’ to 3’
Leading strand:
Synthesized continuously in the direction of unwinding
Lagging strand:
Discontinuously synthesized.
Okazaki fragments:
Short lengths of DNA that are later covalently bound into a single continuous chain.
Primase, DNA pmase 3, DNA pmase 1, ligase
Primase puts a buncha little primers on the lagging strand. DNA pmase 3 synthesizes backward as much as it can, then DNA pmase 1 comes in and replaces primer RNA with DNA. Ligase connects the fragments.
Replication bubble:
2 Y forks joined from ori extending in opposite directions.
Bacteria and archaea only have one ORI; eukaryotes can have hundreds so synthesis is much faster.
Replication problem with linear DNA:
DNA synthesis can’t reach the extreme ends of a molecule, so DNA gets shorter with every replication.
Telomere:
A region of very repetitive non-coding DNA at the ends of chromosomes that can afford to be lost
Telomerase:
A kind of DNA pmase that determines telomere length.
Contains its own template so it can add a telomere to the 3’ end of DNA without having to read a template
Usually only active in early embryos and germ cells
One gene-one enzyme hypothesis:
The direct relationship between genes and enzymes