unit 2 learning objectives
DNA, Genes, and Biotechnology
Describe the structure and classification of nucleotides and their role in nucleic acid formation.
DNA- deoxyribose sugar (1 oxygen), phosphate group, nitrogenous base (adenine, guanine, cytosine, thymine), double helix, double stranded
RNA- ribose sugar (2 oxygen), phosphate group, nitrogenous base (adenine, guanine, cytosine, uracil), single stranded
hydrogen bonds between base pairs, covalent between molecules in phosphodiester backbone
Describe and interpret the molecular processes underlying the flow of genetic information, as defined by the Central Dogma of Molecular Biology (DNA → RNA → Protein).
DNA
Transcription
helicase unwinds DNA double helix
RNA polymerase starts at promoter region to decode one gene of DNA
uses uracil instead of thymine
result is pre-mRNA: RNA splicing by enzymes; cut out introns (stay in nucleus), leave extrons in (to exit nucleus to be decoded into proteins)
mRNA ready to leave the nucleus
RNA
Translation
now in cytoplasm or RER
initiation
tRNA anticodon binds to mRNA, binds to small ribosomal subunit, binds to large ribosomal subunit
elongation
A Site: amino-acyl site, tRNA anticodon binds to mRNA codon
P Site: peptidyl site, holds the growing polypeptide chain
E Site: where tRNA exits
when a protein binds or releases a ligand, the shape changes so that is how the ribosome moves along the mRNA
polysome: when multiple ribosomes working on the same mRNA
GTP needed for building proteins because it provides the energy for the peptide bonds between amino acids to form
termination
when mRNA stop codon
there is no complementary tRNA anticodon
so releases and polypeptide strand either stays in cytoplasm or goes to ER to be modified then sent out of the cell
Protein
Identify the key enzymes and molecular components involved in transcription and translation, and explain their functions.
Transcription:
helicase- unwinds DNA double helix
RNA polymerase- makes RNA polymers (mRNA)
spliceosome- in charge of RNA splicing
Translation:
small ribosomal subunit: makes the polypeptide chain
large ribosomal subunit: holds the polypeptide chain, acts as enzyme for it being made
GTP- provides energy for peptide bonds to be made
Apply knowledge of the Central Dogma to accurately transcribe and translate a given DNA sequence by hand.
GAC TTG CCG AAT CAG
transcribe into RNA: CUG AAC GGC UUA GUC
translate into amino acids: Leu Asn Gly Leu Val
Differentiate and characterize the four primary types of genetic mutations and their potential effects on gene expression.
Frameshift: deletions and insertions, may cause wrong amino acids bc entire frame shifts
Silent: base pair substitution but codes for the same amino acid, no effects
Missense: base pair substitution that codes for a different amino acid, may be a big deal or not a big deal, just depends
Nonsense: base pair substitution that codes for a stop codon, gonna make the polypeptide chain too short so not functional
Cell Reproduction and Cancer
Describe the stages of the cell cycle and explain the major events that occur during each phase.
Interphase
cell’s normal function
G1: cell is growing
S: DNA replication
G2: preparing for cell division
Prophase
nuclear membrane breaks down
chromosomes condense
prometaphase: spindle fibers penetrate nuclear membrane, attach to chromosomes
Metaphase
chromosomes line up at metaphyseal plate
Anaphase
sister chromatids pulled apart by spindle fibers
spindles pushing to stretch cell membrane and separate
Telophase
chromosomes at opposite poles, start to unwind
nuclear membranes form
cleavage furrow
microtubules also pulling cell membrane in
Cytokinesis
cells completely separated
Compare and contrast mitosis and meiosis in terms of purpose, processes, outcomes, and biological significance.
Identify the types of cells that undergo mitosis and meiosis, and explain the significance of each process in growth, repair, and reproduction.
Recognize and describe key intracellular events (e.g., chromatin condensation, spindle formation, crossing over), specify when and where they occur, and explain their biological consequences.
Mitosis
to replace and repair tissues
somatic cells
makes diploid cells
all identical
1 DNA replication for 1 division
Meiosis
to reproduce
germ cells/ gametes
makes haploid cells
all genetically different
1 DNA replication for 2 divisions
crossing over in prophase I, independent assortment in anaphase I and II
chromosomes do NOT unwind in telophase I because they go right into prophase II
Differentiate spermatogenesis and oogenesis in terms of timing, location, number of gametes produced, and cellular differentiation.
Explain the mechanisms and consequences of X chromosome inactivation and the role of the SRY gene in sex determination.
Spermatogenesis
starts at puberty, in seminiferous tubules (from periphery to lumen), finishes meiosis II in epididymis
spermatogonia (stem cells) go through mitosis to make one daughter stem cell and one daughter spermatocyte
spermatocyte goes through meiosis to make 4 sperm
Oogenesis
starts as an embryo, stops in prophase I, begins again at puberty, stops at metaphase II, finishes meiosis at fertilization
in ovaries, cells at different stages throughout
1 egg/ovum ovulated per month
meiosis makes one ovum and 3 polar bodies (become dumping ground for extra chromosomes)
X Chromosome Inactivation
one X chromosome IN FEMALES is turned off
covered in special RNA and becomes a Barr body
about half cells have paternal X turned off, about half cells have maternal X turned off
SRY gene
gene on Y chromosome
contains TDF gene (testis determining factor)
determines gender
Describe the molecular basis for cancer and how it develops
tumor suppressor gene must be mutated
mutagenic environment
become immune to apoptosis
Describe the 4 types of point mutations and their consequence
frameshift: insertion or deletion
silent: codes for same amino acid
missense: codes for a different amino acid
nonsense: codes for a stop codon
Understand important terminology related to cancer (apoptosis, cell-cycle checkpoint, oncogene/protooncogene, tumor, tumor suppressor, angiogenesis, malignant, benign)
apoptosis: programmed cell death, cells shrink away
cell cycle checkpoints
G1: check DNA is intact and environment is good to divide
S and G2: check DNA replicated correctly
Metaphase: check microtubules attached correctly and chromosomes aligned
oncogene: mutated proto-oncogene, doesn’t cause cancer just increases risk
proto-oncogene: encourages cell division
tumor: bunch of cancerous cells packed together
tumor suppressor: stops cell cycle is there is an issue, initiates apoptosis
angiogenesis: tumor secretes angiogenin which encourages blood vessels to grow near it and supply the tumor with nutrients instead of supplying healthy cells
malignant: tumor spreads
benign: tumor doesn’t spread
Genetics and Biotechnology
Know the common methods used in biomedical research
model research organisms: similar to human genes, cheap and fast experiments, shorter life spans
gene sequencing: DNA polymerase uses regular and modified nucleotides, when modified stops sequence, run through gel, shine light through to see which nucleotide, see order
gel electrophoresis: restriction enzymes in with DNA, SNPs so may cut may not, run through agarose gel, DNA runs to positive cathode away form negative anode, large chunk gets caught so can’t travel as far, compare to ladder to see base pair amounts
immunohistochemistry: assess and locate specific proteins
polymerase chain reaction: increases by exponential amplification
denaturation: 95 Celsius, strands come apart
annealing: 55 Celsius, primers attach
extensions: DNA polymerase attaches nucleotides to strands
fluorescence in situ hybridization: identify and locate specific DNA sequences
Understand and be able to apply important terminology ( e.g. model organism, aneuploidy, homologous structures, analogous structures, divergent vs convergent evolution, etc. ) .
model organisms: test subjects
aneuploidy: chromosome number not multiple of 23
trisomy (2n+1)
monosomy (2n-1)
homologous structures: divergent evolution, share same shape or function
analogous structures: convergent evolution, share same shape or function
divergent evolution: from same common ancestor
convergent evolution: developed same thing independently
Understand and be able to apply important terminology from both Genetics chapters (e.g. linkage, carrier, karyotype, nondisjunction, pleiotropy, codominance, etc.).
linkage: genes close together very likely to be inherited together
carrier: heterozygous for a less than optimal gene
karyotype: pic of chromosomes, colchicine freezes in metaphase
nondisjunction: chromosomes don’t separate properly
pleiotropy: wide ranging effects of one gene
codominance: both alleles expressed fully
incomplete dominance: blended dominance, heterozygote somewhere in between two homozygotes
polygenic traits: affected by many genes like eye or hair color
multifactorial traits: affected by one or more genes and environment
sex influenced: genes are same in both genders but your sex determines how it’s shown
sex limited: only genes appropriate for your gender are expressed
sex linked: on X chromosome, like colorblindness
Be able to use a Punnett square to predict offspring genotypes and phenotypes (autosomal and sex linked)
yep I can do that
Identify instances of Non-Mendelian inheritance in humans
codominance
pleiotropy
polygenic traits
incomplete dominance
linkage