Gene Expression Flashcards

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1
Q

The DNA binding domain is located on the ___________ where as the DNA binding element is located on the ____________

A

Protein; DNA strand

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2
Q

__________ is the most important mechanism for determining whether or not genes are expressed.

A

The first step, the transcription initiation

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3
Q

What is the TATA box?

A

Determines transcription initiation and direct binding of RNA polymerase II

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4
Q

Where is the site where general transcription factor’s bind?

A

The TATA box

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5
Q

_____________ are generally located 200 base pairs upstream of the transcription site and help regulate in a cell-type specific manner. __________ also help regulate in a cell-type specific manner yet can be very far upstream or down stream from the promoter

A

Promoter proximal elements; enhancers

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6
Q

Beta-Thalassemia is an inherited anemia caused by a mutation on the _____________, reducing the amount of __________

A

Beta-globin promoter; beta globin mRNA

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7
Q

Why does the effects of hemophilic beta Leyden decrease in puberty?

A

The lack of clotting factor is affected by an inherited mutation in promoter of factor IX. At puberty, the androgen receptor becomes active and can bind to the promoter site through overlap.

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8
Q

Fragile X syndrome is caused by an expansion in ___________ in the 5’ region, silencing the FMRI gene.

A

CGG repeats

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9
Q

The two classes of activators and repressors are ________ and ____________

A

Sequence specific DNA binding proteins; Co-factors

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10
Q

Sequence specific DNA binding proteins bind to ____________, inserting their alpha helixes in the ___________ of DNA, allows for contact between the amino acid chains and bases of the DNA

A

Promoter or enhancer elements; Major groove

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11
Q

Co-factors bind to ______________

A

Sequence specific DNA binding proteins

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12
Q

The _________ of DNA binding proteins is highly structured, conserved and folded where as the __________ is very unstructured until they bind to co-factors

A

DNA binding domain; activation domain

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13
Q

Describe the structure of the homeodomain proteins (helix-turn-helix)

A

Has a 60 amino acid domain called a homeodomain; has 3 helices; the second two helices makes the helix-turn-helix motif

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14
Q

Describe the structure of the zinc finger protein.

A

Made of four cystine residues/ or two cystine residues and two histone residues; the fingers recognize and bind to DNA; includes androgen, estrogen and glucocorticoid

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15
Q

Describe the structure of the basic leucine receptor protein.

A

Has a helical structure which allows the protein to dimerize and form zippers; the tail of amino acids interacts with the DNA; involved in the growth and proliferation of cancer

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16
Q

Describe the basic helix-loop-helix motif.

A

This is the basic leucine zipper protein with the loop.

17
Q

Craniosynostosis involved mutation in the __________, MSX2. The mutation has one amino acid mutation which causes the protein to bind more strongly to the DNA, causing hyperactive suture closing.

A

Homeodomain protein

18
Q

Androgen insensitivity syndrome, which causes feminization of the external genetalia at birth is caused by a mutation in the ______________

A

Zinc finger binding protein

19
Q

Waardenberg syndrom Type II, which causes deafness and pigment abnormalities is due to a mutation in the _________

A

Basic helix-loop-helix binding protein

20
Q

Leucine zipper binding proteins can demonstrate combinatorial control by forming __________ or ____________

A

homodimers; heterdimers

21
Q

The two classes of chromatin remodeling factors include __________ and ____________

A

DNA dependent ATPases(disrupt histones); HATs and HDACs (reversible)

22
Q

The N-termini of histone are rich in __________ residues.

A

Lysine

23
Q

What is a HAT?

A

Histone acetyltransferase; acetylates the n-termini of histones and neutralize the positively charged ends of the lysine rich tail; co-activator

24
Q

What is a HDAC?

A

Histone deacetylases; removes acetyl groups from the histones and aids in DNA remaining wound; co-repressor

25
Q

In Rubinstein-Taybi syndrome, which involves growth and mental retardation and craniofacial dimorphism, there is a mutation in the _____________ which is a ___________

A

CREB binding protein; HAT

26
Q

_________ is the more accessible form of chromatin, whereas __________ is always repressed because the DNA is inaccessible

A

Euchromatin; Heterochromatin

27
Q

The conformation of the DNA-binding protein can be altered by ligand binding such as when __________ transcription factors bind to the steroid hormone.

A

Zinc finger

28
Q

__________ is normally held in the cytoplasm by binding to an inhibitor, yet when the inhibitor is phosphorylated and degraded, this protein gets the nuclease localization signal and performs activity involved in inflammation

A

NFkB

29
Q

High intracellular calcium activate calcinurin’s phosphotase activity, dephosphorylating _______, allowing it to travel into the nucleus, where is affects transcription of genes involved in immune response in heart function.

A

NFAT

30
Q

In the absence of Wnt signaling, ___________ is targeted for degradation.

A

beta-catenin

31
Q

In the presence of Wnt signaling, the Axin-APC-GASK3 is destabilized, preventing_____________

A

The phosphorylation of beta-catenin

32
Q

p53 is down regulated by binding to the ____________ which masks its activation domain and target it for destruction

A

MDM2

33
Q

__________ negatively regulate DNA by causing a lack of a basic domain

A

ID proteins