Regulation of gene expression Flashcards

1
Q

describe gene nomenclature

A

-all leters in a gene name are italicized
- human gene names are all capitalized
-mouse gene names are only first letter capitalized

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2
Q

what are some gene specific requirements

A

-intracellular hormone receptor complexes (steroids)
- intracellular second messengers (peptide hormones)
- gene specific transcription factors
- gene regulatory sequences

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3
Q

what is a helix loop helix

A

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

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4
Q

what are DNA binding zinc finger motifs

A

multiple types, but all have a bound zinc metal ion associated with the protein. some have an alpha helix plus beta sheet structure, others have a more helix-turn-helix sstructural motif
- generally binds over larger stretch of DNA

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5
Q

what are helix turn helix

A

DNA binding motif with 2 alpha helices form a Y shaped coiled coil structure, results in both protein and DNA bindinf

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6
Q

what do the majority of DNA binding proteins function as

A

dimers or tandem clusters

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7
Q

what does the leucine zipper do

A

promotes both DNA binding and dimerization

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8
Q

in prokaryotes where is the start of transcipriton in relation to the location of the control sequences

A

the repressor and activator binding sites are generally closely juxtaposed to the RNA polymerase binding site

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9
Q

in eukaryotes where is the start of transcription in relation to the location of the control sequences

A

DNA regulatory sequences can be located at great distances relative to the start site of transcription, be found in the 5’ to 3’ flanking regions and in introns

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10
Q

where is the TATA box located and what does it bind

A

~25-30 BP 5’ of the start site of transcription and binds TBP subunit of TFIID

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11
Q

what does the INR contain and what does it bind

A

start site of transcription for many RNA pol II genes and binds TFIID

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12
Q

where is DPE located and what does it bind

A

located at +30 3’ of the start site and binds TFIID

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13
Q

where is BRE located and what does it bind

A

located at -35 5’ of the start site and binds TFIIB

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14
Q

what are the steps of activatino of transcription at a specific promotor

A

gene activator protein binds to chromatin -> chromatin remodeling -> covalent histone modification -> addition activator proteins bound to gene regulatory proteins -> assembly of pre-initiation complex at the promoter -> transcription initiation

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15
Q

what controls the mRNA in the cytosol

A

microRNA

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16
Q

what is linkage analysis

A

-the autosomes and X chromosome are amendable to linkage mapping studies because they undergo recombinaiton
- y chromosomes does not undergo recombination

17
Q

what is the most common used technology for identifying disease causing genes

A

DNA/RNA sequencing coupled with software and databases to identify mutations in genes
- exome sequencing

18
Q

what does genome sequencing invole

A

entire genome sequences

19
Q

what does exons sequencing involed

A

only protein coding regions

20
Q

what does transcriptomic sequencing or RNA sequencing involve

A

genes that are being sequences

21
Q

what do epigenomics involve

A

-dna methylation
-ChIP sequencing
-ribosome profiling

22
Q

what are some rare bone diseases

A

-osteoporosis pseudoglioma syndrome
- high bone mass
-scleroteosis / Van buchem disease

23
Q

what gene is identified in many bone trait diseases

A

LRP5

24
Q

what bone diseases are loss of functino mutations

A

osteoporosis pseudoglioma

25
Q

what bone diseases are gain of function mutations

A

high bone mass

26
Q

describe the Wnt/beta catenin signaling pathway

A
  • Wnt binds to LRP5 and frizzled protein
  • release of beta catenin and it goes into nucleus where it binds to TCF
27
Q

what mutation causes sclerosteeosis and van buchems disease

A

SOST gene

28
Q

what is the mechanism of action of sclerostin

A

binds LRP5 and inhibits Wnt/beta catenin signaling