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85 Cards in this Set

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What is the general structure of nucleotides?
1 Nitrogenous Base
1 Pentose (Sugar)
1 Phosphate group
What is the function of NUCLEOTIDES?
Nucleotides are building blocks of nucleic acids such as DNA or RNA.
Distinguished the difference between RIBONUCLEOTIDE (RNA) and DEOXYRIBONUCLEOTIDE (DNA)?
DNA and RNA are holders of genetic information, however RNA has an OH group on the 2' carbon, whereas DNA has an H group on the 2' Carbon of the pentose
What is the difference between a PURINE and PYRIMIDINE?
A purine is a nitrogenous base which as two carbon nitrogen bases. Pyrimidine only has one carbon nitrogen ring.
Name the two PURINES, presents in DNA and RNA?
Adenine
Guanine
Name the three PYRIMIDINES present in DNA and RNA?
Cytosine
Thymine (DNA) /Uracil(RNA)
How can purines and pyrimidines be modified?
Some contain minor bases, which are the methylated forms of the major bases, these minor bases have roles in regulating and protecting genetic information
Describe the phophodiester linkage in the covalent backbone of DNA and RNA?
Bridge between the 5' phosphate group and 3' hydroxyl group between 2 nucleotides. Both backbones are hydrophilic and therefore the backbone are alternating pentose and phosphate group. The 5' end lacks a nucleotides at the a nucleotide at the 5' position, and the 3' end lacks a nucleotide at the 3' position
Know the hydrogen bonding patterns in base pairs
Adenine interact with Thymine/Uracil through 2 hydrogen bonds

Guanine interact with Cytosine through triple hydrogen bonding
Know the structure of DNA?
Consist of two helical DNA strands that runs in an complemetnary antiparrallel direction.

Hydrophilic backbones of alternating deoxyribose and phosphate groups are on the outside of the double helix facing water. Whereas the purine and pyrimidine bases are stacked inside the double helix. The offset pairing of the two strands creates a major groove and a minor groove.

Hydrophobic
What occur with DNA strands during cell divison?
1 parent strand splits into 2 and each parent strand combines with a new daugher strand to form a new strand.
DNA can occur in 3 different dimenensional for, which are?
B FORM
A FORM
Z FORM
Between the DNA forms, which one is the most stable?
B FORM
Between the DNA forms, which one is the longest, zigzag, skinny, and is 12 base pairs per turn?
Z FORMS
Between the 3 DNA forms, which one is favored in many solution that doesn't have water and it's wider and has 11 base pair per turn?
A FORM
Between the 3 DNA forms, which one is tilted at a 20 degree and usually crystallized in A form?
Z FORM
Define GENOTYPE and PHENOTYPE?
Genotype is the genetic constitution of an organism, as distinct from its physical characterisitcs. (Aa, AA, or aa)

Phenotype is the observable characteristics of an organism
Define MUTATION?
An inheritable change in the nucleotide sequence of a chromosome
Define HOMOZYGOUS and HETEROZYGOUS?
Homozygous is when an organism have both copies of a given gene

Heterozygous is when an organism have two different alleles og a given gene
Define ONE GENE-ONE ENZYME?
Gene is a segment of genetic material that determines or codes one enzyme
Who theroized the ONE GENE ONE ENZYME theory?
Beadle and Tatum
What is ONE GENE-ONE POLYPEPTIDE?
One gene-one polypeptide is a theory that evolved about MANY GENES CODE FOR A PROTEIN TAHT ISN'T AN ENZYME OR ONE POLYPEPTIDE
Define GENE?
Gene is all the DNA that encodes the primary sequence of some final gene product
Define REGULATORY SEQUENCES?
Regulatory sequences provide signals that may denote the beginning or end of genes.
What functions does REGULATORY SEQUENCES served?
Provide signals taht may denoted the beginning or the end of genes

Inluences the transcription of genes

Function as initiation points for replication or recombination
Define ALLELE?
Different version of the same gene
Be able to perform a simple mednelian pedigree analysis?
Look at HW #2
What is the difference between PROKARYOTIC and EUKARYOTIC gene structure?
Prokaryotics (bacteria)
- large, single, doubled stranded, circular DNA

- contains free, extrachromosomal DNA molecules called plasmids in the free cytosol

- Few bacteria contains introns

Eukaryotics
- More complex
- 46 chromosomes
- Contains introns and exons, typically more introns than exons
What are PLASMIDS?
Plasmids are extrachromosomal DNA molecules separate from the chromosomal DNA, which is capable of replicating independently from the chromosmal DNA.
What is the difference between introns and exons?
Introns are intervening sequences or nontranslated DNA segments in genes

Exons are coding segments

Few bacterias have introns

Eukaryotics typically have more introns than exons
How many total DNA base pairs are in E.coli (prokaryotes)? humans?
4,700,00

3,100,000,000
Approximate number of genes in E.coli (prokaryotes)? humans?
4,435

29,000
Know the important structural elements of a eukaryotic chromosome?
Their nucleotide sequences contain one or more intervening segments of DNA that do not code for the amino acid sequence of the polypeptide product, called introns as opposed to prokaryotic that rarely have introns. They have one gene per cell. Highly repetitive sequences in the human genome
What are other terms for HIGH REPETITIVE SEQUENCES?
SIMPLE SEQUENCE DNA

SIMPLE SEQUENCE REPEATS

SATELLITE DNA
What role does TRANSPOSONS play in human evolution?
Movement of transposons can lead to the redistribution of other genomic sequences
Define CENTROMERE and TELOMERES?
Centromere is a sequence of DNA that functions during cell division as an attachment point for proteins that links the chromosome to the mitotic spindle.

Telomeres are sequences at the end of eukaryotic chromosomes that help stabilize the chromosome
What is so important about CENTROMERES?
This attachment is essential for the equal and orderly distribution of chromosomes sets to daughter cells .
Does mitochondria have DNA, and if so list them?
mtDNA
Define mtDNA?
mtDNA is replicated each time the mitochondrian divides before cell division by simple binary fission.
Can mtDNA be genetic?
Yes mtDNA can only passed from mother to child, in the cytoplasm of fertilized egg.

Believed to have been once an independent bacteria, later became part of the modern cell
Define KARYOTYPE?
Karyotype is a map of chromosome in the nucleus of a single cell.
What is another term for KARYOTPE?
Chromosome analysis
What purpose does KARYOTYPE or CHROMOSOMAL ANALYSIS served?
Used to diagnose some types of genetic disease

Observed charcteristics (number, type, shape) of the chromosomes of an individual or species
What purpose does KARYOTYPE or CHROMOSOMAL ANALYSIS served?
Used to diagnose some types of genetic disease

Observed charcteristics (number, type, shape) of the chromosomes of an individual or species
What kind of species possess mtDNA?
Eukaryotics
Know roughly what percentage of our genome is exon vs introns vs transposons?
Exons 1.5%

Introns 30%

Transposon 45 %
What kind of species possess mtDNA?
Eukaryotics
What purpose does KARYOTYPE or CHROMOSOMAL ANALYSIS served?
Used to diagnose some types of genetic disease

Observed charcteristics (number, type, shape) of the chromosomes of an individual or species
Know roughly what percentage of our genome is exon vs introns vs transposons?
Exons 1.5%

Introns 30%

Transposon 45 %
What is the HUMAN GENOME PROJECT?
Human genome project was an international scientific research project with the primary goal was to determine the sequence of chemical base pairs which make up DNA and to identify and map the out genes of the humane genome from both a physical and functional standpoint.
What kind of species possess mtDNA?
Eukaryotics
What is the HUMAN GENOME PROJECT?
Human genome project was an international scientific research project with the primary goal was to determine the sequence of chemical base pairs which make up DNA and to identify and map the out genes of the humane genome from both a physical and functional standpoint.
What kind of species did the HUMAN GENOME PROJECT use in their investigation?
E.coli
Fruit flies
Mouse
Know roughly what percentage of our genome is exon vs introns vs transposons?
Exons 1.5%

Introns 30%

Transposon 45 %
What kind of species did the HUMAN GENOME PROJECT use in their investigation?
E.coli
Fruit flies
Mouse
What is the HUMAN GENOME PROJECT?
Human genome project was an international scientific research project with the primary goal was to determine the sequence of chemical base pairs which make up DNA and to identify and map the out genes of the humane genome from both a physical and functional standpoint.
What kind of species did the HUMAN GENOME PROJECT use in their investigation?
E.coli
Fruit flies
Mouse
The genome of any given individual is unique, with the exception of which individual?
Identifical twins
Cloned individuals
True or False; mapping human genome only require one copy of each gene?
False: human genome involves sequencing multiple variation of each gene
What are some of the projects that the human genome research allows us to perform?
Most of the current effort in identifying differences among individuals involves single nucleotide polymorphisms. Understanding how these genes express themselves will provide clues to how diseases are caused. This could mean all humans are descended from a single mother. Improved our understanding of how we evolved as humans and diverged from apes 25 millions years ago. It also tells how our body works, including the mystery behind how the sense of taste works
List in order the phases of INTERPHASE?
G1
S
G2
List the stages of MITOSIS and what is happening during it stage?
Prophase: DNA condense more

Metaphase: Line up at the meta plate

Anaphase: Separates

Telophase: cells divison completes
What occurs in the S phase of INTERPHASE?
DNA repicates and each chromosome producing two sister chromosomes (sister chromatids) remains associated with each other until after replication is completed.
DNA are so long, how do they maintain compaction?
DNA in the chromosome are very tightly associated with histones, which packag e and order the DNA into structural units called nucleosomes
Who theroized that DNA strands are SEMICONSERVATIVE?
Meselson-Stahl
Define SEMICONSERVATIVE REPLICATION?
Each DNA strand serves as template for the synthesis of a new strand, producing two new DNA molecules each with one new strand and one old (parent) strand.
What did Meselson-Stahal do in the experiment to yield SEMICONSERVATIVE REPLICATION?
Grew E.coli in both heavy nitrogen 15 and light nitrogen 14 in a medium and switch the E.coli in the opposite nitrogen medium and allow the population to grow. Results concluded both E.coli had hybrid DNA strand, one from the nitrogen 14 and one from the nitrogen 15
List the 3 stages of DNA replication?
Initiation
Elongation
Termination
What needs to happen to ACYCLOVIR before it can be active?
THYMIDINE KINASE needs to active and phosphorylate acyclovir to inhibit herpes
How DNA replication is so accurate and why is it important for DNA replication to be accurate?
The active site of DNA polymerase I can only accommodate certain base pair with the same geometry and will be rejected before the phosphodiester bond is form.

Proofreading: if the polymerase has added the wrong nucleotide, translocation of the enzyme to the position where the next nucleotide is to be added is inhibited. The 3'-->5' exonuclease activity removesthe mispaired nucleotide and the polymerase begins again. (Reverse of the polymerization reaction)


Proofreading
Base selection
E.coli has at least how mayny DNA polymerases?
5
Function of DNA Polymerase I, II, and III?
DNA Polymerase I: clean up functions during replication, recombination and repair

DNA Polymerase II: enzyme needed for DNA repair

DNA Polymerase III: enzyme needed for replication in E.coli
Of the 5 DNA polymerases, which is mainly use?
DNA Polymerase I
What are Klenow fragment or Large fragment?
Left over fragments that retains polymerization and proofreading activities
Why are DNA repair systems so important?
Mismatch Repair
Base Excision Repair
AP endonuclease
Describe Mismatch Repair in board terms?
DNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion, and mis-incorporation of bases that can arise during DNA replication and recombination as well as repairing some forms of DNA damage
True or False: Mismatch repair is strand specific?
True
Describe BASE EXCISION REPAIR?
Base excision repair is a cellular mechanism taht repairs damage to DNA througout the cell cycle.
Identify the responsibilities of BASE EXCISION REPAIR?
Responsibile for removing small, non-helix distorting base lesions from the genome
What is so important about Base Excision Repair?
It is important for removing damaged bases that could otherwise cause mutations by mispairing or lead to breaks in DNA during replication
Which enzyme initiates BASE EXCISION REPAIR that recognize and remove specific damaged or inappropriate bases forming AP sites
DNA glycosylases
Describe NUCLEOTIDES EXCISION REPAIR?
DNA repair mechanism that constantly requires repair due to damage that can occur to bases from a variety of sources like chemicals or UV.
Why is NUCLEOTIDES EXCISION REPAIR important?
Cell can prevent unwanted mutations by removing the vast majority of UV induced DNA damage
Define Direct Repair?
Repair without removing a base or nucleotide
Define DNA photolyases?
Direct photoreactivation repair