Regulation of Gene Expression

Question 1

A gene is defined as a…

Answer 1

segment of DNA that is
transcribed into RNA and its associated
transcriptional control regions

Question 2

All letters in a gene name is

Answer 2

italicized

Question 3

Human gene names are designated with (2)

Answer 3

all

capitalized and italicized letters

Question 4

Mouse gene names are designated with the

Answer 4

first letter capitalized and all letters italicized

Question 5

General Requirements: (1)

Answer 5

Transcriptional machinery

Question 6

Gene Specific Requirements (4)

Answer 6

Intracellular hormone-receptor complexes
Intracellular second messengers
Gene specific (class specific) transcription factors
Gene regulatory sequences

Question 7

Intracellular second messengers

Answer 7

Peptide hormones that bind to cell membrane receptors

Question 8

Intracellular hormone-receptor complexes

Answer 8

Steroids (estrogen, testosterone, Vit D3, etc.) and their cognate receptors

Question 9

Proteins Involved in Regulating Gene

Expression (7)

Answer 9

• Activators / coactivators
• Repressors / corepressors
• Mediators and DNA binding proteins
• Chromatin remodeling proteins
• Histone acetylase / deacteylase
• Histone methylation
• DNA methylation (selective CpG dinucleotides to 
produce 5-meC)

Question 10

Helix-loop-helix

Answer 10

common in transcription factors and consists of α helices bound by a looping stretch of amino acids

Question 11

DNA binding Zinc Finger Motifs

Answer 11

multiple types, but all have a bound zinc metal ion(s) associated with the protein. Some have an α-helix plus β-sheet structure, others have a more helix-turn-helix structural motif. Can be monomers or dimers

Question 12

Helix-turn-helix

Answer 12

DNA binding motif consisting of two α helices joined by a short stretch of amino acids

Question 13

Leucine Zipper

Answer 13

Two proteins each with an α-helix (formed largely by consecutive leucine residues) form a Y-shaped coiled-coil structure. Results in both protein and DNA binding

Question 14

The majority of DNA binding proteins function as (2)

Answer 14

dimers or tandem clusters

Question 15

The leucine zipper is capable of

Answer 15

promoting both DNA binding

and dimerization

Question 16

In prokaryotes, the repressor and activator binding sites

are generally closely juxtaposed to the

Answer 16

RNA Polymerase

binding site

Question 17

In eukaryotes the experimental evidence has shown that

DNA regulatory sequences can be

Answer 17

located at great
distances relative to the start site of transcription, be
found in the 5’- or 3’-flanking regions, and in introns

Question 18

TATA Box

Answer 18

located ~25-30 bp 5’ of the start site of

transcription, binds TBP subunit of TFIID

Question 19

INR

Answer 19

Contains start site of transcription for many RNA Pol II

genes, binds TFIID

Question 20

DPE

Answer 20

located at +30 (3’) of the start site, binds TFIID

Question 21

BRE

Answer 21

located at -35 (5’) of the start site, binds TFIIB

Question 22

DNA is not a

Answer 22

rigid linear structure

Question 23

Many approaches available today from (2)

Answer 23

GWAS to linkage analysis to DNA sequencing

Question 24

Linkage Analysis (old school approach) (2)

Answer 24

– The autosomes and X-chromosome are amenable to linkage mapping studies because they undergo recombination.
– The Y-chromosome with the exception of the psuedoautosomal region does not undergo recombination

Question 25

The most commonly use current technology is the rapid DNA/RNA sequencing coupled with software and databases to identify

Answer 25

mutations in genes

Question 26

Exome sequencing allows us to identify

Answer 26

causal mutations in those cases where a large family suitable for linkage analysis is not available

Question 27

DNA Sequencing (4)

Answer 27

• Genome sequencing
• Exons (Exomic sequencing)
• mRNA (Transcriptomic sequencing or RNA-
seq)
• Epigenomics

Question 28

Epigenomics (3)

Answer 28

– DNA methylation
– ChIP sequencing
– Ribosome profiling

Question 29

rare bone diseases (3)

Answer 29

osteoporosis pseudoglioma sindrome (OPPG)
high bone mass (HBM)
sclerosteosis/van buchem disease

Question 30

Human mutations in LRP5 give rise to (2)

Answer 30

low or high bone

mass

Question 31

Loss-of-function Mutations:

Answer 31

Osteoporosis

Pseudoglioma Syndrome

Question 32

Gain-of-function Mutations:

Answer 32

High Bone Mass and

other increased bone mass phenotypes

Question 33

Sclerosteosis & Van Buchem’s Disease are

caused by Mutations in the

Answer 33

SOST Gene

Question 34

sclerostin Binds LRP5/6 and Inhibits

Answer 34

Wnt/β-catenin Signaling

Question 35

Sclerostin is Expressed in

Answer 35

Osteocytes

Question 36

Romosozumab (EVENITY) is used for treatment of

Answer 36

post menopausal osteoporosis in when at a high risk for fracture

Question 37

potential risks of Romosozumab (3)

Answer 37

myocardial infarction, stroke and cardiovascular death