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Genetics Review Part I: Cell Division

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Page 1: Unit C Genetics Diploma Review - Biology 30 DIploma Prepbio30diplomaprep.weebly.com/uploads/1/3/2/9/13290043/... · 2018-08-30 · Cell Cycle • The “life cycle” of a cell oThe

Genetics ReviewPart I: Cell Division

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Cell Cycle• The “life cycle” of a cell

o The M phase includes

mitosis and cytokinesis.

o Interphase accounts

for 90% of the cell

cycle.

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DNA organized as chromosomes

• Before mitosis each chromosome is replicated in S phase.

o two sister chromatids

o chromatids connect at

the centromere.

• Mitosis will separate the chromatids into new cells.

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Interphase

• Cell carries out its regular functions

• Grows, replicates organelles, replicates DNA

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Prophase - early

• Chromatin becomes chromosomes

o sister chromatids

• mitotic spindle begins to form

o centrioles move to poles

• (animal only).

o Or Anchor to cell wall

• (plant only)

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Fig. 12.5b

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Prophase – late (or prometaphase)

• Nucleus dissolves

• centrioles move to poles

• spindle attaches centromere (kinetochore) to centrioles.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Fig. 12.5c

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Metaphase

• sister chromatids are all arranged at the metaphase plate.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Fig. 12.5d

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Anaphase

• centromeres divide, separating the sister chromatids.

• these are pulled toward the pole.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Fig. 12.5e

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Telophase• two nuclei begin to form

• DNA becomes less tightly coiled –back to chromatin.

• followed by Cytokinesis.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Fig. 12.5f

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Cytokinesis in animals

• Division of the cytoplasm

• A cleavage furrow forms that pinches the cell in two

Cytokinesis in plants

• A cell plate made up of cell-wall components gradually forms in the middle of the cell.

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Memory Tool• I = Rest and Replicate

• P = Appear

• M = Line up

• A = Pull apart

• T = Half and hide

**You need to be able to explain what happens with

the DNA, nuclear envelope, centrioles and spindle

fibers during each stage

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Terminology

• Haploid (n) – contain one set of chromosomes (not

paired)o The 23 different kinds of chromosomes in humans

• Diploid (2n) – DNA is in homologous chromosome

form. Two sets of chromosomeso i.e., the 46 chromosomes of humans (23 pairs)

• Polyploid (more than 2n) – more than 2 sets of

chromosomes.

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Cancer• Uncontrolled cell growth forms tumors

• Very little time in interphase

• Unspecialized cells – non-functional

• Metastasize as no adhesion to other cells

• A Mutation can affects the regulation of cell division

and thus uncontrolled mitosis, and cancer result

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Cloning• Mitosis

• Budding (yeast)

• Vegetative propagation (plant runners)

• Identical twins (monozygotic)

• Adult stem cells e.g.: bone marrow produces blood

cells

• Embryonic stem cells from blastula inner mass are

totipotent (can produce entire organism)

• Blastula nucleus transplanted

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Why form gametes (non-somatic cells)

• Diploid somatic (2n) �

Haploid Gamete (n)

• Union produces zygote

• Genetic recombination

of genes from both

parents for natural

selection

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MeiosisKey Terms:� Homologous chromosomes� Tetrads� Synapsis� Crossing over� Segregation

General IPMAT & RALPHStill applies to the phases

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Meiosis• Prophase 1 = crossing over

• Metaphase 1 = chromosomes line up side by side

• Only 1 interphase, no further growth or DNA

replication between Meiosis I and Meiosis II

• Meiosis 1 cells go from (2n) to (n) (still replicated in

sister chromatid form)

• Meiosis II cells go from replicated (n) to a single

copy (n)

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Gametogenesis:

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Nondisjunction

• Trisomy – 1 extra chromosome• Monosomy – 1 less chromosome

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21

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Comparison

Mitosis Meiosis

• Somatic cells

• 2 identical cells

produced

• 2n�2n or n�n

• No pairing or crossing

over of homologs

• For growth and repair

• Gonads

• 4 different cells

produced

• 2n�n

• Pairing of homologous

chromosomes

• Crossing over

• Produces gametes

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Alternation of Generations• Some organisms alternate between sexual and asexual

reproduction

• You will be asked to either identify the areas of Mitosis and/or Meiosis or what structures are haploid or diploid

• Important Processes:o Fertilization = n + n → 2n

oMeiosis = 2n → n

oMitosis (maintains chromosome #)

• 2n → 2n or n → n

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Genetics ReviewPart II: DNA and Molecular Genetics

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DNA Structure

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History• Only need to know Watson & Crick – deduced

structure of DNA (1953)

• Used x-ray diffractin pattern of Rosalind Franklin

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DNA Composition

• Nucleotide = sugar, phosphate & nitrogen base

• 4 Nitrogen bases: Adenine, thymine, guanine, cytosine

• Antiparallel strands

• Sequence of bases on one strand determines sequence of other (A with T, C with G)

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Base Pairing Rule

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Example:• Species X has 20% Adenine in their DNA sample.

How much Cytosine do they have?

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Central Dogma of Molecular Genetics….basics

• Replication

o DNA is copied (DNA→ DNA)

• Transcription

o A message is made from the DNA template (the gene is transcribed) (DNA→ mRNA)

• Translation

o mRNA is “read” and an amino acid sequence (protein) is

made (mRNA→ Protein)

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DNA Replication• Each chromosome = long DNA strand, must be

replicated precisely

• During what phase of the cell cycle?

• Location?

• Enzymes involved:

o Helicase – opens DNA Strands

o DNA Polymerase – adds new nucleotides to growing strand

• Semi-conservative replication

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Biotechnologies: PCR• Polymerase Chain Reaction

• Making millions of copies of a DNA sample using

laboratory equipment, heat resistant polymerase

enzyme and nucleotide supply• Cause replication to happen at a very rapid rate

• Used for DNA analysis

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Transcription:• Occurs in nucleus

• One side of DNA

• DNA to mRNA

• RNA – Uracil, ribose,

single stranded

• Enzyme: RNA

Polymerase

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• Amino acid chain = polypeptide chain = Protein

• Protein functions: hormones, enzymes, antibodies, structures

• Function of a protein is COMPLETELY dependent on its shape

• Shape is determined by sequence of amino acids which is determined by sequence of mRNA codons• Sequence of mRNA codons determined by base sequence of DNA in the

gene

• Defective (mutant) or missing gene = altered protein function

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Translation (cytoplasm) one gene = one protein

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RNA• Messenger – mRNA

• Transfer - tRNA

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Process of Translation:• A ribosome moves along the mRNA, tRNAs

sequentially bring in the appropriate amino acids

which are then bonded together in a polypeptide

chain (protein)

• The tRNAs are then free to pick up another amino

acid in cytoplasm

• When ribosome reads a stop codon on the mRNA,

the amino acid chain is released as a protein and

the ribosome releases the mRNA

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For the Details…

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Mitochondrial DNA

• mtDNA

• Small number of bases (70 000 versus 6 billion in

genome)

• Mitochondria is from mother exclusively

• Trace lineage maternally

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Mutations• Gene mutation – DNA sequence altered

• Chromosome – missing portions or entire

chromosome leads to huge alterations

• Mutagens – spontaneous error, radiation chemicals

• Types of mutations: substituition, deletion, insertion…

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Types of mutations

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Genetic Engineering• DNA can be artificially recombined in the lab to

have specific gene combinations and

characteristics

• Requires:

o Restriction Enzymes – cut DNA (scissors)

oDNA Ligase – glues backbone back together

• Can produce transgenic organisms that contain

foreign DNA. Why?....o Bacteria can make human proteins (insulin)

o Modify plants to withstand disease, harsh conditions

o Animals with increased growth or to serve as organ donors.

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DNA

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Gel Electrophoresis• Separation of DNA fragments based on size

• Restriction Enzymes cut DNA

• Apply to gel, electric current

• Smaller fragments move farther/faster

• Paternity testing, gene presence, court evidence

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Genetics ReviewPart III: Classical Genetics (Mendel & Beyond)

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Genes – Units of Heredity

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Heredity

• Genes – determine a protein and hence a trait

• Polygenic – 2 or more genes determine some traits

e.g.: height, intelligence

• Genome – all the genes of an organism in DNA

• Alleles – forms of a gene

• Law of Dominance

o Dominant

o Recessive

o Homozygous (pure)

o Heterozygous (hybrid, carrier)

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Law of Segregation

Pairs of alleles separate during meiosis

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Phenotype and Genotype

What it looks likeWhat alleles it carries

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Testcross• To determine the genotype of a dominant

phenotype

• Unknown mated with HOMOZYGOUS RECESSIVE

• If all offspring are dominant the parent is pure =

homozygous dominant

• If ANY offspring are recessive the parent is

heterozygous

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Law of Independent Assortment

• Genes on separate chromosomes assort

independently (randomly) during gamete formation

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Dihybrid Cross

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Steps to Solving a dihybrid Question:

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Alternatively…

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Incomplete Dominance Codominance

• Alleles are equally

dominant and create a

blend

• Use superscript symbols

instead of capital and

small letters

• Both alleles are

expressed in the

heterozygote

• Use same superscript

symbols as incomplete

dominance

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Multiple Alleles – blood groups

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Blood Groups• The diploma often asks questions about blood groups

o Multiple alleles for ABO

• 4 phenotypes: A, B, AB, O

o Dominant/recessive for + or –

• 2 phenotypes + or -

o Codominance for MN group

• 3 phenotypes: MM, MN or NN

• Sometimes questions are dihybrid crosses, sometimes

“What offspring are possible from parents”, etc

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Epistasis• One gene affects the expression of another gene

• E.g.: Coat color

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Sex-linked Traits

• If traits are carried on the

X Chromosome (most):

o Only female carriers

o Never passed from father to

son

• If carried on the Y

chromosome (rarely):

o Only affect males

o Passed from father to sonNote: males and females are already considered so don’t multiply by half when answering question

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Linked Genes

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Gene Mapping

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Pedigrees

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Pedigree AnalysisPossible modes of inheritance you need to identify, interpret,

calculate probabilities

• Autosomal – equal male and female

o Dominant – affected child has affected parent

o Recessive – 2 unaffected parents have affected child

• X-linked – more males

o Dominant – no transmission from father to son, affected

males produce only affected daughters

o Recessive – affected female has affected father

• Y-linked – only males, from father to son

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