Cycle 5 Flashcards by Diya Vyas

Are transposable Elements
Present in plant cells? Do they undergo transposition?

YES

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When they do, they can interfere with a gene for example one that is involved in the ____________ of pigment production, and so the pigment is either produced or not produced (that is how u get different colors in the corn or kernel)

biosynthetic pathway

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___-____% of human genes contain TEs (up to 1000 per gene)

70-80

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TE: In the ______ region

intron

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Not interfering with ______

splicing

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Most TE are “____” due to inactivating mutations (cannot undergo transposition)

dead

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The effect varies from _______ to ______

negligible to disease

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Active TEs have evolved to insert into “____ ____” in the genome

safe havens

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Genes produce ______ that inhibit jumping

proteins

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The host _____ (inactivates) most active TEs

silences

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What do transposable Elements do (what happens if they jump)? (2)

-TE lands in non-coding (safe haven) regions
-TE lands in a protein-coding gene:

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Insertions can lead to disease-causing mutations (ex: _____ when no one in the family has a history)

hemophilia

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HOW?

-Transposable element interferes with factor 8 gene
-This factor produces a protein involved in clotting your blood
L1 (type of TE that goes and inserts itself in the factor 8 gene by a transposition event)
-Therefore clotting gene is not funcitinobale

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Insertions can also lead to gene ______

shuffling

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HOW?

-Each gene has its own promoter
One promoter can activate more than one gene
Ex: promoter one is specific for Gene 1 and Gene 2, it activities they, promoter two is specific for Gene 3 and Gene 4
When TE lands in the region
Can leave part of its sequence in that original region and jump
The second thing it can do is take part of the sequence with it
OR third, take the entire gene with it
Inference causes nonfunctional protein
If TE is cut and pasted then gene 1 will be in control of the wrong promoter
Promoter determines expression
Gene 1 is now regulated under a different promoter
Now gene is transcribed and translated at the incorrect rate

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___ elements cause disease
Most common TE
Has the ability to jump

Alu

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List of mechanisms to generate genomic variation

DNA polymerase
Non-homologous End Joining
Slippage
Tautomeric shifts
Transposition

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__________ makes errors as it adds bases during DNA synthesis

DNA polymerase

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Sloppy mechanisms to repair double-strand breaks caused by ionizing radiation

Non-homologous End Joining

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InDel mutation
Forward ______ on the template strand leads to deletion
Backward ______ on synthesized strand leads to insertion

Slippage

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Spontaneous shift in the chemical form of nitrogenous bases changes preferential pairing
T and G shift from dominant keto form to rare enol form
A and C shift from domina amino to rare imino form

Tautomeric shifts

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Cut/copy and paste transposable elements mostly between genes
More transposable elements are found in larger genomes

Transposition

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______ was the first to pioneer how phenotypic expression is a result of different genes or alleles interacting with one another

Gregor Mendel

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he used pea plants because (3)

-Fast generation time
-Easy to manipulate the peas
-Didn’t have scientific tools back in the day, relying on the naked eye (observable phenotype)

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he concluded: You need ___ alleles for one trait (mendelian form of inheritance)

Most of our inehetricen now are nonmendelian, but in fact, are ______ (many genes give rise to a specific phenotype)

polygenic

_______: The dominant one will express the phenotype

Heterogsyous

At the genetic level, what is the difference between a dominant vs receive allele?

At the DNA level: the sequence is different

______ in DNA means the gene is being transcribed and RnA is being made

Expression

Expression in _____: whatever is happening in the cell, the phenotype being expressed on the organism (color, shape, etc)

phenotype

T/F A recessive allele means it is not being expressed in the cell

FALSE: A recessive allele doesn't mean it is not being expressed in the cell

Phenotypic expression is being masked by the gene, therefore _____

dominant

Neither one of them is dominant and recessive, both are dominant Both fully express their phenotype Bloodtype is example

Codominance

Neither allele can express its complete phenotype

Intermediate expression

Gregor Mendel used _____ Crosses

Controlled

Mendel’s Conclusions: Variation in traits is due to _____ alleles Alleles segregate _____ into gametes Organisms inherit ___ alleles for each trait Appearance of heterozygous is determined by _____ alleles

different randomly (Law of random segregation) two dominant

_______ Crosses Consider One Trait and Predict Distribution of Offspring

Monohydbrid

_____: Is a form of non-Mendelian inheritance in which one gene is capable of interfering with the expression of another

Epistasis

Alleles of two Genes Assort Indepnendlty in _____ Crosses

Dihybrid

Depending on the _____ that your alleles express will determine what it can do in the cell which will determine the phenotype

version

The _____ Gene plays a Role in Eye color

OCA2

An example of ________ inheritance and interaction of different genes to produce a phenotype is eye color

non-mendelian

OCA2 allele has different versions, One gets transcribed and translated into “__ protein”

P protein is involved in the maturation of:

melanosomes

Melanosomes are organelles inside your cell (in stroma) that produce and store ____

melanin

_____ is a pigment that gives the dark color appearance

Melanin

Less melanin = ____ phenotype

lighter

People with brown eyes are producing more __ protein

If you have blue eyes, then you have a different verison of OCA2 which results in ____ production of P protein

less

Absorb light and reflect in specific ways (how ____ scatters light why eye color can change in the sun)

protein

____ activates OCA2 Nonfunctional in blue eyes Black and red are two extremes

HERC2

People have different colored eyes based on whether you're making melanin or not and the ____ of melanin

degree

Another part is the other genes that are involved in eye color They produce protein which absorbs _______ from visible light in a very specific way

wavelength

_____ Disease is an Example of Incomplete Dominance in Humans

Tay Sachs

T/F Sometimes melanocyte maturation can continue after birth that's why eye color can change through the years

TRUE

Two Incompletely Domainnt Allee Lead to an _________ Expression

Intermediate

__ cannot make Hex A, therefore rr enzyme cannot work

_____ is a key enzyme that lysosome in brian depends on

Hex A

Fatty structures accumulate in the brain, All molecules in the cell have to _____

recycle

______: organelle that does the recycling

Lysosome

We all have the same except the last ________, which determines blood type

terminal sugar

______ Alleles are Equally Expressed in Heterozygotes

Codominant

_______ is the enzyme Forms glycosidic bonds Add specific types of sugars

Glycocyltrangerase

Alleles are located in the ___ chromosomes

sex

Blood type is an example of:

Codominant alleles

We code for the ____ that adds the last terminal sugar

enzyme

______ Characteristics Follow Different Inheritance Patterns in Males and Females

Sex-Linked

_______: a gene that you will inherit/cause the disease is on the x chromosome

X-linked disorder

_____can be carriers because they can have one still that is fully functioning

Females

If X linked ______ then one would be enough

dominant

X linked Recessive means you’d need two ______ to be affected

bad copies

____ cannot be carriers because if they have affected X then they have the trait

Females

If trait is _____: then both will behave similarly

dominant

FOR _______ (nonsex chromosomes), the probability is half (25% compared to 50%)

AUTOSOMAL

Sex-linked chromosomes have a higher probably of appearing in offspring than _____ disorders

autosomal

-Colour blindness is _____, men have more chance

x - linked

Monohydbrid: __:___ phenotypic ratio

3:1

Dihybrid: _:_:_;_phenotypic ratio

9:3:3:1

ABO blood types based on surface ______

antigens