Exam 3 Flashcards

(64 cards)

1
Q

Y chromosome

A

found only in males and carries a gene called Sry

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2
Q

Sry

A

sex-determining region Y
this gene triggers male sex determination in mammals
it activates the process that turns undifferentiated gonads into testes

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3
Q

Sox9

A

once Sry is active, it boosts Sox9, which further promotes testis development and supports male pathway progression

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4
Q

Wnt4

A

this gene is key for female sex determination
it suppresses male pathways and promotes ovarian development

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5
Q

Sry vs Sox9 vs Wnt4

A

Sry starts male devleopment
Sox9 supports it (Sry)
Wnt4 promotes female development by blocking the male pathway

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6
Q

without Sry and male hormones…

A

the body naturally develops as female

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7
Q

XX

A

female

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8
Q

XY

A

male

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9
Q

environmental sex determination (ESD)

A

a process that determines an organism’s sex based on environmental factors, rather than genetics

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10
Q

environmental sex determination (ESD)
example 1: temperature-dependent sex determination (TSD)

A

when the temperature of an embryo determines the sex of the offspring
lower temps = male
higher temps = female

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11
Q

environmental sex determination (ESD)
example 2: social factors

A

social factors affect some fish species; if the dominant male in a group dies, a female can change into a male to take its place

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12
Q

temperature-dependent sex determination (TSD) in red-eared slider turtles (using Kdm6b, Dmrt1, Stat3)

A

Kdm6b: at cooler temperatures, this gene is activated and helps trigger Dmrt1
Dmrt1: this gene promotes the development of testes
Stat3: active in warmer temperatures, supporting ovary development

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13
Q

Kdm6b vs Dmrt1 vs Stat3

A

Kdm6b at cool temperatures leads to Dmrt1 activation (male)
while Stat3 at warm temperatures promotes ovaries (female)

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14
Q

melanin

A

the pigment responsible for color in skin, hair and eyes

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15
Q

process of melanin pigmentation in mammals

A

neural crest cells become melanocytes that make melanin in melanosomes and then share it with other cells for pigmentation

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16
Q

neural crest cells

A

they are special cells that start near the spinal cord and then migrate throughout the body, turning into different cell types

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17
Q

melanocytes

A

pigment cells in the skin and hair

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18
Q

melanosomes

A

“pigment packets”
tiny structures inside melanocytes (pigment-producing cells) where melanin is made and stored

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19
Q

tyrosine

A

an amino acid use to make melanin

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20
Q

albinism

A

caused by genetic mutations that prevent melanin production leading to very light skin, hair, and eyes

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21
Q

lightening/darkening

A

different levels of melanin production lead to lighter or darker pigmentation across the body

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22
Q

white patches

A

caused by cells that lack melanocytes or produce less melanin in specific areas

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23
Q

Asip (Agouti Signaling Protein)

A

a gene that plays a key role in controlling coat color in mammals by influencing melanin production
makes pheomelanin

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24
Q

Mc1r (Melanocortin 1 Receptor)

A

a gene that regulates the type of melanin produced in mammals and plays a key role in determining coat color
makes eumelanin

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25
Mc1r and Asip in switching between eumelanin and pheomelanin production
they work together to control whether eumelanin (dark pigment) or pheomelanin (light pigment) is produced in melanocytes Mc1r promotes eumelanin when active Asip inhibits Mc1r, leading to pheomelanin production
26
eumelanin
produces dark colors (black and brown)
27
pheomelanin
produces light colors (yellow and red)
28
how are stripes, shading, and patterns produced?
it forms from variations in when and where Asip and Mc1r are active
29
Asip gene expression
changes across the skin, creating areas of different colors
30
reaction-diffusion patterns
chemical reactions and diffusions in the skin create repeating patterns, like stripes or spots
31
activator (in reaction-diffusion models)
increases pigment production in a small area
32
inhibitor (in reaction-diffusion models)
limits pigment production nearby, creating a balanced pattern like stripes or spots when they interact
33
cDNA
made from mRNA through reverse transcription, creating a DNA copy of active genes
34
application of cDNA
used to study which genes are active by analyzing mRNA in a sample
35
describe the polymerase chain reaction through the 2 cycles
cycle 1: - denaturation: DNA is heated to separate into two single strands - primer annealing: short DNA primers attach to each DNA strand - DNA synthesis: DNA polymerase makes a new strand by adding complementary bases cycle 2: - repeats the steps from Cycle 1, doubling the DNA each cycle
36
explain the process of DNA amplification in vivo
1. restriction enzyme: cuts DNA at specific sites 2. ligation: links DNA to a plasmid (circular DNA in bacteria) 3. transformation: bacteria take up the plasmid DNA 4. colonies: grow on plates, each with the plasmid 5. liquid culture: bacteria multiplying, producing large amounts of recombinant DNA, which is then purified
37
vivo vs vitro
vivo: within the living vitro: in the glass
38
ectopic insertion
DNA is added randomly, ideal for adding extra genes
39
CRISPR
a technology that allows scientists to alter the DNA of living organisms directly targets specific DNA sequences, making precise edits, better for studying specific gene functions
40
the 2 methods of making transgenic plants
1. agrobacterium-mediated transfer 2. gene gun
41
agrobacterium-mediated transfer
bacteria transfer DNA into plant cells
42
gene gun
shoots DNA into plant cells on tiny metal particles
43
Sanger method
a DNA sequencing technique that identifies the order and type of nucleotide bases in a DNA segment uses special bases ddNTPs to stop DNA synthesis at specific points resulting DNA fragments are separated to reveal the DNA sequence
44
dideoxynucleotides (ddNTPs)
modified nucleotides that are used in DNA sequencing
45
Illumina sequencing
a DNA sequencing technique that uses a next-generation sequencing (NGS) technology called sequencing by synthesis (SBS) DNA is cut into short segments, attached to a slide, and copied many times
46
Sanger vs Illumina
Sanger is preferred for precise, small-scale sequencing, while Illumina excels in large-scale sequencing projects where speed and high data yield are essential Sanger: - gives longer reads (1,000 bp) - suited for targeted sequencing - more expensive Illumina: - produces shorter reads (50-300 bp) - better for high-throughput sequencing of large genomes - more cost-effective
47
next-generation sequencing (NGS)
a collection of technologies that rapidly sequence DNA or RNA to determine the order of nucleotides in a genome or specific DNA or RNA regions
48
challenges of assembling Illumina sequence reads into chromosome-length contigs
short reads are hard to assemble into full chromosomes, especially in repetitive regions, so there may be gaps in the sequence
49
recognize how genomes are annotated for sequence conservation
conserved regions between species suggest important gene functions, helping researchers identify key genes
50
RNA-Seq
measures gene activity and finds which genes are turned on
51
ChIP-Seq
finds where specific proteins bind to DNA, helping locate regulatory genes
52
ChIP-Seq vs RNA-Seq
ChIP-Seq tells you where proteins bind DNA, while RNA-Seq tells you which genes are being used ChIP-Seq focuses on DNA-protein interactions RNA-Seq focuses on gene expression (active genes and RNA levels)
53
base substitutions
a type of gene mutation that occurs when a single nucleotide in a DNA sequence is swapped out for another during replication
54
two types of base substitution
transitions: a purine (A or G) or pyrimidine (C or T) is replaced by another purine or pyrimidine transversions: a purine is replace by a pyrimidine or a pyrimidine by a purine
55
indels
or insertion-deletion mutations a type of DNA mutation that occurs when one or more nucleotides are added or removed from an organism's genome
56
naturally occurring mechanisms by which indels arise
1. DNA replication errors 2. transposable elements 3. DNA repair mistakes indels often happen due to replication errors, transposons, or faulty repair
57
naturally occurring mechanisms by which base substitutions arise
1. spontaneous chemical changes 2. DNA replication errors 3. oxidative damage base substitutions can results from spontaneous chemical changes, replication errors, or oxidative damage
58
list a few mutagens
1. chemical mutagens 2. radiation 3. viruses
59
chemical mutagens
substances like tobacco can cause base changes
60
radiation
UV light and X-rays can create DNA breaks or fusions
61
viruses
some insert their DNA into host genes, potentially causing mutations
62
contigs
a set of overlapping DNA segments that represent a DNA region
63
transgenic
when an organism has been given a gene from another species
64
Dkk4
interacts with Wnt4