MidTerm 1 Flashcards

1
Q

Evolution

A

development of a population of living organisms over time with changes in their form; populations not individuals; over generations

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2
Q

Evidence for Evolution

A

Scientific Method
Age of Earth
Adaptation
Descent with Modification

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3
Q

Scientific Method

A

belief/idea; observations; hypothesis; testable predictions; data gathering; refine; develop theories

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4
Q

Age of Earth

A

4.6 Billion years old; radiometric/relative dating

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5
Q

Adapation

A

traits that make organism capable of dealing with environment

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6
Q

Darwin’s Finces

A

Beaks changes over time according to available food source (evidence of adaptation)

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7
Q

Speciation

A

formation of new/distinct species in course of evolution

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8
Q

Artificial Selection

A

breeder chooses individuals with specific characteristics

i.e Dog breeding; Russin Fox experiment; Corn domestication

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9
Q

Phylogeny

A

Evolutionary development/diversification of species/ group/ feature; ancestral traits and structures can be used to explain evolutionary relationships

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10
Q

Homologous Structurs

A

similar in form, not function

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11
Q

Vestigial Structures

A

parts without function

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12
Q

Transitional Structures

A

species with mix of current and past traits

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13
Q

Embryology

A

similar embryonic structures due to shared ancestry

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14
Q

Paleontology

A

study of fossils

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15
Q

Robert Hooke

A

Invented microscope/ “cell”; studies fossilized & living cork. Proved continuity between past and present fossil forms

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16
Q

George Cuvier

A

Studies fossils in the Paris Basin; Catastrophism; extinction events (Mastodon v African Elephant)

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17
Q

Catastrophism

A

cataclysmic events responsible for geological/fossil formation changes

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18
Q

Taxonomy

A

classification of past and living fossils/organisms

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19
Q

Linnaeus

A

Created Linnaen taxonomy; taxonomic order which allowed grouping of similar organisms

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20
Q

Linnaeus Taxonomy

A

Species; genus; family; order; phylum; kindgom

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21
Q

Geology

A

study of Earth and natural forces

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22
Q

James Hutton

A

Studies how land surfaces changed due to forces; studies geological strata; uniformitarianism

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23
Q

Uniformitarianism

A

natural process today as it was in past

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24
Q

Demography

A

study of influences which illustrate changing structure of human population

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25
Thomas Malthus
human population is limited by food supply
26
Development of Evolutionary Theory
Paleontology, Taxonomy ,Geology, Demography, Biology
27
Jean-Baptist Lamark
believed higher level organisms could acquire positive changes in form; Inheritance of Acquired Characteristics; differential body parts; environment affects organisms traits leading to a different behavior
28
Inheritance of Acquired Characteristics
traits acquired over lifetime and passed down
29
Alfred Russel Wallace
Wrote to Darwin, encouraging Darwin to publish
30
Charles Darwin
``` Theory Of Evolution by Natural Selection Trait variation is random Traits are heritable Over population/ competition Differential reproductive success ```
31
Science
Change over time/ Descent with Modification Common Ancestor Earth is about 4.6 billion years old Organisms aren't perfect
32
Religion
``` Religious doctrine/ Creationism Earth is only around 6,000 years old Great Chain of Being Species Unchanged and fixed Intelligent Design ```
33
Intelligent Design
Complex beings such as humans cannot have been due to random chance, must have had a creator
34
Gregor Mendel
Discovered basic principles of heridity
35
Generations: P, F1, F2
P: true breeding F1: first level offspring F2: second generation
36
Heritable
transmission of traits from one generation to next
37
Gene
unit of inheritance, codes for protein, located on chromosome
38
Genotype
genetic/ allele of orgamisn
39
Phenotype
Physical expression of gene
40
Locus
location of a gene on a chromosome
41
Allele
Alternative version of a gene
42
Dominant
allele that is fully expressed
43
Recessive
Allele that is not expressed
44
Mendel's Experiment Conclusions
Law of Dominance; Law of Segregation; Law of Independent Assortment
45
Law of Dominance
when two different alleles for a gene are present, the allele that is dominant will be phenotypically expressed
46
Law of Segregation
Each allele segregates into separate gametes, each carrying one allele for each gene; each gamete only carries one allele for each gene
47
Law of Independent Assortment
Random orientation of homologous chromosomes during Metaphase 1, each pair of alleles on separate chromosomes segregate independently
48
Complete Dominance
dominant trait always fully expressed
49
Incomplete dominance
neither allele is completely dominant; phenotype is between both parents; genotype distinct
50
Codominance
Both alleles expressed separately
51
Blending Inheritance
offspring characteristics are a blend of both genotypes
52
Polygenetic Inheritance
additive effect of more than one gene; affect phenotypic expression; multigenes for one effect
53
Pleiotyophy
when one gene effects more than one phenotypic character
54
Epistasis
Phenotypic expression of one locus alters effect on a second locus
55
Mendelian Genetics and Disease
``` single gene variability autosomal dominant/recessive minimal environmental influences due to complications in either the gene or protein function ```
56
Complex Genetic Disease
Polygenic common variable modes of inheritance affected by environmental influences
57
Autosomal Recessive Disease
recessive allele of gene that causes genetic disorder; common (aa - disease; Aa - carrier; AA - no disease)
58
Autosomal Dominant Disease
only one copy of allele needed to express disease; rare (AA - disease; Aa - disease; aa - no disease)
59
Cystic Fibrosis (autosomal recessive)
1/2500 Europeans 4% carriers; Defective gene on chromosome 7 - CFTR and causes a 3 base pair deletion; causes mucus buildup
60
Huntington's Disease
1/1000 in US 50% chance of inheriting if parent is affected; deterioration of nervous system with late onset (autosomal dominant); 2 repeats of CAG on chromosome 4
61
Genetic Counseling
genetic testing developed for most simple Mendelian genetic disease
62
Pedigre analysis
displays family tree and affected family members
63
Amniocentesis
prenatal diagnosis of chromosomal abnormalities and fetal infection; amniotic fluid
64
Chorionic Villus Samplig
prenatal tests that show/diagnose chromosomal abnormalities; placenta
65
From Darwin/Mendel to DNA
Watson, Crick, and Franklin
66
Watson
bacterial genetics
67
Crick
Physicist
68
Franklin
x-ray and chemist; allowed us to look at structure of DNA
69
DNA Structure/Found/Bases
Structure: double helix; sugar-phosphate backbone Found: in nucleus Bases: Adenine to Thymine; Guanine to Cytosine
70
Human Genome
All chromosomal DNA; 3.2 billion bases
71
Central Dogma of Molecular Genetics
DNA - RNA - Protein
72
Modern Evolutionary Synthesis
Julian Hurley Genes responsible for inheritance Pop. not individuals evolve Speciation due to gradual accumulation of small changes multiple mechanisms for evolution: nat select, genetic drift, mutation, migration DNA basis of heredity and variation
73
Darwin's Evolutionary
Mechanisms for evolution: natural selection | Didn't know basis of heredity or variation
74
Nuclear DNA
``` located in nucleus; contains two sets of 23 chromosomes Biparental inheritance Double Helix Chromatic structure Crossing over/ recombination ```
75
Chromosomal DNA
Autosomal 3.2 billion base pairs 22 pairs of chromosomes
76
Mitochondrial DNA
``` plasmid 16000 base pairs no chromatin circular no crossing over or recombination each mitochondria can have several copies of the same mtDNA ```
77
Human Genetic Material
Chromosomal and Mitochondiral DNA
78
Chromosome
made of two identical chromatds
79
chromatid
2 per chromosome identical split during replication
80
Telemore
ends of chromosome; contain Tandem repeats (repeating sequences: TTAGGG) which don't get coded
81
Human Genetic Structural
Linear Nucleosome: first level of compaction; mainly histones Solenoid: helix with 6 nucleosomes per turn Higher Order: loops of 30 nm fiber around central scaffold
82
Heterochromatin
Highly compact | transcriptionally inactive
83
Euchromatin
less compact | more heavily transcriptionally active
84
Mitochondrial DNA Mutation rate
higher mutations found than nuclear DNA due to higher levels of oxidative damage from energy production 37 genes 16589 base pairs
85
Endosymbiotic Theory
mtDNA was once independent prokaryotes that were englufed
86
Haplotype
group of mutations
87
Haplogroup
groups of similar patterns of haplotypes
88
mtDNA Summary
``` found in mitochondria each can have several copies of same mtDNA maternal inheritance circular no chromatin no crossing over/recombination ```
89
Nuclear DNA Summar
``` found in nucleus 2 sets of chromosomes biparental inheritance chromatic structure crossing over and recombination ```
90
RNA
single stranded nucleic acid
91
mRNA
carries instructions to make proteins
92
tRNA
3 base pair anti-codon sequence with corresponding amino acid attached; assembles amino acids based on mRNA sequence
93
RNA Bases
G, C, A, U (A - U) (T - A) (G - C)
94
RNA Polymerase
binds to DNA template strand
95
Introns
noncoding sections of RNA; gene expression
96
Exons
coding sections of RNA
97
RNA Splicing
Introns removed; produces final mRNA sequence
98
Alternative Splicing
exons spliced; can have different arrangement of exons
99
Proteins
chains of amino acids
100
Amino Acids
building blocks of cells; translated from RNA codons
101
RNA Codons
transcribed from DNA sequence
102
Codons
Series of three nucleotides in a row which code for one amino acid Used by mRNA in transcription 64 different combinations
103
Anti-Codons
complimentary nucleotide sequence of three base pairs | Used by tRNA
104
Polypeptide
chain of amino acids
105
Start Codon
Begin translation; AUH, GUG, UUG
106
Stop codon
End translation: UGA, UAA, UAG
107
From DNA to Amino Acid
DNA is transcribed to RNA which is translated to a protein
108
Process of Transcription
Carrying a message of protein instructions 1. DNA strands separate 2. RNA polymerase binds to DNA template strand 3. Produces pre-messenger RNA (mRNA) (Complimentary pairing; U instead of T) 4. RNA splicing 5. mRNA exits nucleus
109
Translation
Creation of polypeptide chains of Amino Acids 1. Ribosomes bind to mRNA in cytoplasm 2. Ribosomes match mRNA codons to anti-codons 3. Two tRNA enter ribosome 4. Amino acids attached to tRNAs connect tRNAs without amino acids and mRNA codons exit ribosome At end of mRNA strand, ribosome detaches
110
Genetic Variation
``` Structural Variants Transposons Minisatellites Microsatellites Single Nucleotide Polymorphisms ```
111
Structural Variants
variation in gene number (copies/deletions/insertions)
112
Amylase (AMY 1) Gene Copy; ex. of structural variants
enzyme acids in starch digestion; correlated with amylase protein production; populations with higher starch diets have more enzymes
113
Transposons
Mobile and can move to other sections of genome; important for understanding human genetic diversity; more diversity = longer existence
114
ALU Insertion; ex. of transposon
300 bases long; more than 1 million in human genome | small part of its polymorphic has changes
115
Minisatelites
repeating segments of DNA nucleotides (6-100 in length) | variable between humans and populations
116
Telomere Tandem Repeats; ex. of minisatellites
can measure many locations in genome
117
DNA Fingerprint
identifying individuals by DNA Patterns
118
Microsatelities/ Short Tandem Repeats
repeating nucleotides; 2-3 bases long Variability in number of repeats relatedness and diversity
119
Single Nucleotide Polymorphism
changes in single nucleotide (deletion/ insertion/ mutation); serve no effect
120
Straitgraphy
different colors of rocks; showing relative position of strata and their relationship to the geological time scale
121
Darwin's Theory of Evolution by Natural Selection
Variation in traits in a population; random Traits are heritble Overpopulation & Competition Differential reproductive success
122
Descent with Modification
speciation | artificial selection
123
Special Creationism
``` species are immutable each created individually species all present at the beginning and now no common ancestor Earth is less than 10,000 years old ```
124
Analogous Structures
forms differ in anatomy but are similar in function
125
Heritability
transmission of traits from one generation to the next
126
Chromatin
Unwoven DNA/ protein complex
127
Karyotypes
arrangement of chromosomes by size and structure
128
Centromere
region where mitotic spindles attach to the homologous chromosome
129
Metacentric
centromere near middle
130
Telocentric
centromere near the end
131
Telomere
ends of chromosomes (contain tandem repeats)
132
Histones
small basic proteins
133
Mutation
any heritable change in structure or amount of genetic material; only source of new genetic material
134
Selection
Individuals with advantageous characteristics will survive in higher number and produce more offspring; acts on phenotypes not genotypes
135
Chromosome
long stand of tightly coiled DNA
136
5 Forces of Evolution
``` Mutation Selection Genetic Drift Gene Flow/Migration Assortative Mating ```
137
Assortative Mating
Non-random mating; purposefully selecting mates based on presence or absence of traits
138
Positive Assortative Mating
choosing mates based on similar phenotypes
139
Negative Assortative Mating
Choosing mates based on dissimilar phenotypes
140
Point Mutation
Change in a single base pair
141
Synonymous Point Mutation
point mutation that does result in an amino acid change
142
Non-Synonymous Point Mutation
Point mutation that does not result in an amino acid change
143
Frameshift mutations
insertion or deletion of base pair that results in a rearrangement of sequencing triplets
144
Transposable Elements; Insertion into non-coding
no effect
145
Transposable Elements; Insertion into coding
can lead to non-functioning proteins
146
Sexual Selection
adaptations to make an organism more likely to attract a mate
147
Zygote
produces variation through meiosis; offspring have unique combination of genes inherited by both parents
148
Mitotic Spindle
Microtubules that attach to chromosomes to separate them
149
Kinetochore
protein shell that forms around a centromere where microtubules attach
150
Nuclear Envelope
membrane that forms around genetic material
151
Cohesion Proteins
divide sister chromatids
152
Somatic Cells
Body cells that are produced by mitosis (DNA copies into two exact copies of daughter cells)
153
Diploid
Cell contains two complete sets of homologous chromosomes (2N = 46 chromosomes)
154
Haploid
contain a single set of unpaired chromosomes (N = 23 chromosomes)
155
Gametes
Sex cells produced by meiosis; haploid cells
156
Sexual Reproduction
Male and female gametes combine, forming zygote, produces variation through meiosis
157
Centrosomes
Organizes microtubules (proteins); center point
158
Chaisma
site where crossing over occured
159
Independent Assortment of Chromosomes
random orientation of homologous chromosomes during metaphase 1; chromosome pairs separate and move to opposite sides of cell
160
Random Fertilization
independent assortment and crossing over are random, produces multiple combinations of chromosomes and zygotes
161
Founder Effect
Type of genetic drift When a small group of large population migrates to a new region Represents a subset of the total parent population diversity
162
Bottleneck Effect
Type of genetic drift When a population size is reduced very quickly Surviving population can have different allele frequencies Consequences: can dramatically reduce genetic variation of future populations to adapt to new selection pressures
163
Allele Loss
no individual in the population has the allele 0% gene frequency Allele not passed down to next generation
164
Allele Fixation
All individuals in population have the allele state 100% gene frequency; no variation will continue to produce the same
165
Crossing Over
exchange of genetic material; occurs during prophase of meiosis chromosomes connect along their length and are aligned with corresponding gene
166
Cytokinesis
division of the cytoplasm
167
Helicase
separates two DNA Strands
168
Binding
stabilizing each strand
169
Primase
creates RNA strands for DNA polymerase to bind
170
DNA Polymerase
assembles nucleotides onto stands
171
Exonuclease
removes RNA primers
172
Ligase
joins DNA strands together
173
Semi-Conservative
conserves half of its DNA to make a copy from one strand
174
Partiocality and mtDNA
if bride settles with grooms family then it increases the mtDNA diversity
175
Matrilocality and mtDNA
groom settles with brides family then the mtDNA diversity stays the same
176
Examples of Assortative Mating in Human Populations
height, redheads, IQ
177
Modern Evolutionary Synthesis
(Neo-Darwinism) Multiple mechanisms for evolution DNA is basis of heredity and variation Small changes in DNA (microevolution) lead to larger changes (macroevolution)
178
How DNA replication occurs
Occurs during interphase; chromatids copied 1. Helicase separates and unwinds DNA which creates a DNA replication fork 2. Binding proteins prevent strands from rejoining 3. Primase makes RNA templates 4. DNA polymerase binds to RNA templates and adds nucleotides to DNA strand 5 - 3 direction Leading strand (5 - 3) Lagging strand ( 3 - 5) Primase creates RNA primer DNA polymerase binds to RNA primer, building small fragments 5. Exonuclease - removes RNA primers 6. DNA polymerase fills in gaps from RNA primers in 5 to 3 direction 7. Ligase - joins DNA strands together
179
Okazaki Fragments
sequenced from the template DNA on the lagging strand which goes from 3’-->5’ but because the direction of sequencing always has to go from 5’-->3’ the direction of sequencing for the NEW complimentary Okazaki fragment sequence is in the 5’-->3’ sequence. Sequencing direction always goes from 5’-->3’ direction but the sequencing direction refers to direction that the complementary strand that is being produced NOT the template strands.
180
Synapsis
is the pairing of two homologous chromosomes that occurs during meiosis. It allows matching-up of homologous pairs prior to their segregation, and possible chromosomal crossover between them. Synapsis takes place during prophase I of meiosis.
181
Klinefelter's Syndrome
nondisjunction (homologous chromosomes do not separate correctly during meiosis) of sex autosomes, results in XXY of males
182
Directional Selection
favors extreme forms of trait and causes an allele frequency shift in one direction
183
Disruptive Selection
extreme versions of the trait favors (results in deviant allele frequencies)
184
Stabilizing Selection
favors average versions of trait; less allele frequency variation and deviance trait expression)
185
Balancing Selection
``` Two traits favored; balancing two or more forms of a trait in a population; maintaining polymorphism frequencies Heterozygote advantage (Aa has higher fitness) ```
186
Cell Cycle
allows multicellular organisms to grow from one cell; replace old cells; renew cell supply
187
Mitosis
Prophase; Prometaphase; Metaphase; Anaphase; Telophase
188
Barriers to Gene Flow
Environmental Reproductive timing Cultural barriers
189
Gene Flow
movement of alleles between two populations through breeding
190
Sickle Cell Anemia
mutation that results in improper hemoglobin proteins reduce capacity to bind to oxygen; being a carrier helps prevent malaria
191
Genetic Drift & Population Size
Depends on population size Smaller population: greater effect of genetic drift Larger population: less effect of genetic drift
192
Genetic Drift
Random change in allele frequency over time due to chance; can lead to random allelic fixation/loss
193
Gene Flow & Migration
movement of alleles between two populations through breeding; caused by migration
194
Insertions/Deletions
insertion of deletion of a base pair
195
Fitness
fitness of a phenotype depends on how common it is in a population; a higher fitness level = a higher chance at survival to reproduce; 1 is highest
196
Neutral Theory of Evolution: Kiumura
Most mutations are neutral so selection does not act upon them