Mct Block Ii

Front 1

Microsatellites

Back 1

Tandom nucleotide repeats

Front 2

Transposons

Back 2

Mobile DNA elements

Front 3

Function of transposase

Back 3

Makes cuts around donor DNA and target DNA as a part of transposon movement

Front 4

Robertson translocation

Back 4

Translocation in acrocentric centromeres

Front 5

Result of Robertson translocation

Back 5

Two chromosomes combine into one; one long arm from each and no short arm

Front 6

Ploidy of 47,XXX

Back 6

Aneuploid

Front 7

Ploidy of 92,XXXX

Back 7

Tetraploid (polyploid)

Front 8

Ploidy of 47,XY + 22

Back 8

Aneuploid (trisomy of 22)

Front 9

Ploidy of 45, XY - 3

Back 9

Aneuploid (monosomy of 3)

Front 10

46,XX/47,XXX

Back 10

Mosaic

Front 11

Folic acid in embryos

Back 11

Important for neural tube development

Front 12

Folic acid in adults

Back 12

DNA replication

Front 13

Use of N10-Formyl-FH4 (tetrahydrofolic acid)

Back 13

Purine synthesis

Front 14

First derivative of FH4

Back 14

Tetrahydrofolic acid (N10-Formyl-FH4)

Front 15

Use of N5,N10-methylene FH4

Back 15

DNA synthesis (dUMP to dTMP)

Front 16

Second derivative of FH4

Back 16

N5,N10-methylene FH4 77

Front 17

Use of N5-methyl-FH4

Back 17

Homocysteine to methionine in methionine cycle

Front 18

Function of B12 in the methionine cycle

Back 18

Removes methyl group from methyl-FH4 and uses it to methylate homocysteine (now methionine)

Front 19

Function of SAM in the methionine cycle

Back 19

SAM is a product of methionine and ATP. Donates methyl group for many reactions

Front 20

Function of folic acid in methionine cycle

Back 20

Derivative of folic acid donates a methyl group so homocysteine can be converted to methionine

Front 21

First step of purine synthesis

Back 21

Start with PRPP, then assemble the purine base

Front 22

Second step of purine synthesis

Back 22

Rate limiting step; amine group is added

Front 23

Third step of purine synthesis

Back 23

IMP separates into 2 branches that end with GTP and ATP

Front 24

Regulation of purine

Back 24

Feedback inhibition

Front 25

Allosteric inhibitor

Back 25

Inhibitor binds at site that is different from the substrate binding site

Front 26

FirsPyramidine synthesis

Back 26

Pyrimidine ring is synthesized, then ribose is attached

Front 27

Function of methotrexate

Back 27

Blocks conversion of folate into FH4 (blocks DNA synthesis)

Front 28

Initiation of DNA replication

Back 28

Helicase is recruited to ORI by ORC, then unwinds DNA

Front 29

Elongation in DNA replication

Back 29

Leading primer synthesis, unwinding, lagging primer synthesis

Front 30

Termination in DNA replication

Back 30

Strand ligation

Front 31

DNA Pol Alpha

Back 31

Finished making primer after RNA primase

Front 32

DNA Pol Delta

Back 32

Synthesizes lagging strand

Front 33

DNA Pol Epsilon

Back 33

Synthesizes leading strand

Front 34

What clamps DNA Pol to the DNA

Back 34

PCNA

Front 35

Function of Replication Protein A (RPA)

Back 35

Binds to ssDNA to maintain uniform conformation

Front 36

What binds to ssDNA at the replication for to ensure it doesn't aggregate

Back 36

Replication Protein A (RPA)

Front 37

Two components that make the RNA Primer

Back 37

RNA Primase and DNA Pol Alpha

Front 38

What opens PCNA

Back 38

RFC

Front 39

Function of PCNA

Back 39

Clamps DNA pol to DNA

Front 40

Function of RNAase

Back 40

Removed primer

Front 41

Function of telomerase

Back 41

Adds Tel sequence to end of the lagging strand after the primer is removed (ensures that strand does not shorten)

Front 42

Type I Topoisomerase

Back 42

Nicks one strand, then rejoins them

Front 43

Blocks Type I Topoisomerase

Back 43

Camptothecins

Front 44

Function of Camptothecins

Back 44

Blocks Type I Topoisomerase

Front 45

Type II Topoisomerase

Back 45

Nicks both strands of DNA, then rejoins them

Front 46

Blocks Type II Topoisomerase

Back 46

Quinolones and fluoroquinolones

Front 47

Function of quinolones and fluoroquinolones

Back 47

Blocks Type II Topoisomerase

Front 48

Tautomerism

Back 48

Balance between keto and enol form (allows for atypical base pairing)

Front 49

Depurination

Back 49

No base to pair with

Front 50

Deamination

Back 50

Causes bases to mispair

Front 51

What type of damage does ATM regulate

Back 51

dsDNA breaks

Front 52

What type of damage does ATR regulate

Back 52

dsDNA breaks, stalled replication forks, DNA mismatches, and nucleotide damage

Front 53

Function of p21

Back 53

Arrests cells in G1 phase

Front 54

Function of Cdc25

Back 54

Arrests cells in G2 phase

Front 55

What does p53 (Tumor Supressor gene regulate)

Back 55

Apoptosis and activation of p21

Front 56

What does direct reversal repair

Back 56

Reversible DNA damage, like alkylation

Front 57

Function of MGMT

Back 57

Involved in direct reversal repair; removes alkylation from DNA

Front 58

What does base excision repair

Back 58

Incorrect base pairing

Front 59

How does base excision repair work

Back 59

Base is removed by DNA Glycosylase. Endonuclease cuts back bone, lyase cuts other side.

Front 60

What does nucleotide excision repair

Back 60

Thymine-thymine dimers

Front 61

Process of nucleotide excision repair

Back 61

TFIIH opens DNA helix, endonucleases cleave the dimer, then the gap is repaired

Front 62

What does mismatch repair do

Back 62

Repairs error in the daughter strand

Front 63

Process of mismatch repair

Back 63

MSH6 recognized mutation, MSH2 stabilizes the binding. Helicase unwinds, endonuclease cleaves

Front 64

What mutation is linked to HNPCC (Lynch's Syndrome)

Back 64

Mutations in MSH2 and MLH1 (mismatch repair)

Front 65

What mutation is linked to xeroderma pigmentosum

Back 65

Nucleotide excision repair process

Front 66

What mutation is linked to BRCA-I Associated Breast Cancer

Back 66

Double strand break reapair (BRCA I produces tumor supressor proteins)

Front 67

Cause of double strand break

Back 67

Ionizing radiation

Front 68

Two methods the repair double strand breaks

Back 68

Non-homologous end joining (NHEJ) and Homologous recombination

Front 69

Class I trinucleotide repeat disorders: Caused by

Back 69

Expansion of noncoding repeats

Front 70

Class I trinucleotide repeat disorders: Results in

Back 70

Loss of protein expression

Front 71

Class II trinucleotide repeat disorders: Caused by:

Back 71

Expansion of noncoding repeats

Front 72

Class II trinucleotide repeat disorders: Results in:

Back 72

Novel properties on the RNA

Front 73

Class III trinucleotide repeat disorders: Caused by:

Back 73

Expansion of codon

Front 74

Class III trinucleotide repeat disorders: Results in

Back 74

Novel properties on the affected protein

Front 75

Anticipation

Back 75

Disease develops at earlier age and is more severe each generation

Front 76

Cause of anticipation

Back 76

Expansion of trinucleotide repeats (greater the expansion, greater the severity)

Front 77

Parental transmission bias

Back 77

Anticipation only occurs when the mutant allele is transmitted by a specific parent

Front 78

Fragile X Syndrome Class

Back 78

Class I

Front 79

Transmission of Fragile X Syndrome

Back 79

X-linked dominant

Front 80

Sx of Fragile X Syndrome

Back 80

Mental retardation, large/protruding ears, large testicles

Front 81

Mental retardation, large/protruding ears, and large testicles indicate:

Back 81

Fragile X Syndrome

Front 82

Myotonic Dystrophy class

Back 82

Class 2

Front 83

Transmission of Myotonic Dystrophy

Back 83

Autosomal dominant

Front 84

Sx of myotonic dystrophy

Back 84

Progressive muscle weakness/wasting and cataracts

Front 85

Progressive muscle weakness/wasting and cataracts indicate:

Back 85

Myotonic Dystrophy

Front 86

Class of Huntington disease

Back 86

Class 3

Front 87

Huntington Disease transmission

Back 87

Autosomal dominant

Front 88

Huntington Disease sx

Back 88

Neurodegeneration, and uncoordinated, jerky body movements

Front 89

Neurodegeneration, and uncoordinated, jerky body movements indicate

Back 89

Huntington Disease

Front 90

Function of PCR

Back 90

Amplifies DNA fragment

Front 91

Advantages of PCR

Back 91

Fast and simple

Front 92

Disadvantages of PCR

Back 92

Stutter bands

Front 93

Stutter bands

Back 93

Other repeats are cut that are not the repeat/section of interest

Front 94

Southern blot

Back 94

Restriction enzyme cuts DNA at specific sites, but cannot cut if the site is methylated

Front 95

Initiation of transcription

Back 95

Pol binds to core promoter in dsDNA (closed complex). It melts dsDNA near the start site, forming a bubble (open complex)

Front 96

Elongation of transcription

Back 96

Pol advances 3'->5' down the template strand, melting dsDNA and adding rNTPs to the RNA strand

Front 97

Termination of transcription

Back 97

Pol releases completed RNA and dissociates from DNA once it hits the stop codon

Front 98

Phosphorylation of C-terminal does what

Back 98

Activates transcription

Front 99

Function of 5' capping

Back 99

Stabilizes mRNA, nuclear export, and translation initiation

Front 100

Function of poly-A tail

Back 100

Essential for RNA export to the cytoplasm

Front 101

Splicesome

Back 101

Complex of proteins that binds to the mRNA strand to remove introns and reconnect exons

Front 102

Mediators

Back 102

Protein complexes that help anchor RNA Pol II; acts as a bridge between TF and basal TFs

Front 103

What do mediators determine

Back 103

When and where a target gene is expressed

Front 104

Four DNA-Binding domains of TFs

Back 104

Homeodomain, Leucine Zipper, Helix-Loop-Helix, and Zinc Finger

Front 105

Structure of homeodomain

Back 105

Helix-turn-helix (side chains stick out to allow for binding)

Front 106

What are activators

Back 106

Nuclear receptors that have bound to a ligand

Front 107

What are repressors

Back 107

Nuclear receptors with no ligand

Front 108

Homodimers of nuclear receptors

Back 108

Binding site flanked by inverted repeats. Inactive form is in cytoplasm

Front 109

Heterodimers of nuclear receptors

Back 109

Binding site flanked by direct repeats. Inactive form is in nucleus

Front 110

Process of imprinting

Back 110

All imprints are erased during gamete formation, genes in sperm are rewritten with paternal imprint (opposite for eggs)

Front 111

Prader-Wili cause

Back 111

Deletion on paternal chromosome (maternal genes are imprinted, so not expressed), results in no gene in the pt

Front 112

Angelman Syndrome cause

Back 112

Deletion on maternal chromosome (paternal genes are imprinted), results in no gene in the pt

Front 113

Molar pregnancy

Back 113

Benign tumor; egg is fertilized then develops into abnormal mass of cysts

Front 114

Two types of molar pregnancy

Back 114

Complete (no embryo, all egg chromosomes come from father)

Partial (abnormal embryo, mother gives chromosomes, father gives 2 sets)

Front 115

Trisomy rescue

Back 115

Lose one chromosome by nondisjunction after fertilization

Front 116

Heterodisomy

Back 116

Gametes from nondisjunction on meiosis one (one chromosome from mom and one from dad)

Front 117

Isodisomy

Back 117

Gametes from nondisjunction in meiosis II (two chromosomes from one parent)

Front 118

Uniparental disomy

Back 118

Trisomy rescue; both chromosomes are from one parent

Front 119

Function of eIFs in mRNA translation

Back 119

Form a complex that binds the 5' cap and 3' poly-A tail, forming a loop. Increases efficiency

Front 120

Contents of pre-initiation complex

Back 120

Small ribosomal subunit, eIFS, and Met-tRNA

Front 121

Contents of initiation complex

Back 121

Large and small ribosomal subunits, tRNA

Front 122

When does the pre-initiation complex become the initiation complex

Back 122

When it hits the start codon and the large subunit displaces the eIFs

Front 123

Chaperones

Back 123

Guide recently made protein to fold in the correct structure

Front 124

Silent mutation

Back 124

Aka polymorphism. Same amino acid is translated; involves 3rd position in codon

Front 125

Nonsense mutation

Back 125

Results in stop codon

Front 126

Missense mutation

Back 126

Results in amino acid change

Front 127

Conservative vs nonconservative missense mutations

Back 127

Conservative: mutation amino acid has same properties as wild-type

Front 128

Function of proteosome

Back 128

Mediates degradation by recognizing proteins with ubiquitination

Front 129

microRNAs

Back 129

Endogenous, noncoding, can bind many targets, inhibits translation

Front 130

Short interfering RNA

Back 130

Exogenous, noncoding, one siRNA binds one target, degrades mRNA

Front 131

Mechanism of nonsense mediated decay

Back 131

Presence of EJC indicates presence of premature stop codon

Front 132

Ferritin

Back 132

Binds and stores excess iron

Front 133

IREs

Back 133

Iron-response elements. Region in 5' UTR of mRNA that detects iron

Front 134

Ferritin mRNA: Low iron

Back 134

IRE binding proteins bind to IREs, blocking the ribosome from translating

Front 135

Ferritin mRNA: High iron

Back 135

Iron binds to IRE binding proteins. IRE-BPs are not blocking the ribosome, so translation occurs

Front 136

Tfr

Back 136

Transferrin receptor; picks up iron in the circulatory system that's bound to transferrin

Front 137

Tfr mRNA: High iron

Back 137

Translation occurs; results in degradation of TfRs

Front 138

Tfr mRNA: Low iron

Back 138

Translation does not occur; no degradation of TfRs

Front 139

Allelic heterogeneity

Back 139

Different mutation on same gene

Front 140

Locus heterogeneity

Back 140

Mutation occurs on different genes

Front 141

X-linked dominant

Back 141

Affects twice as many females, heterozygous females are usually more mildly affected

Front 142

X-linked recessive

Back 142

Occurs more in males. All daughters of effected males are at lease carriers

Front 143

Calculation for penetrance

Back 143

Number of affected/total individuals with mutation

Front 144

Somatic mosaicism

Back 144

May result in segmental or modified gene expression

Front 145

Germline mosaicism

Back 145

May result in multiple affected offspring from an unaffected parent

Front 146

Haploisufficiency

Back 146

Contribution from single nl allele is not enough to present disease

Front 147

Incomplete dominance

Back 147

Trait is more severe in homozygotes

Front 148

Codominance

Back 148

Both alleles in the heterozygote are expressed

Front 149

Loss of function mutation

Back 149

Gene product is partially or wholly inactivated

Front 150

Null mutation

Back 150

Form of LoF mutation; complete LoF

Front 151

Gain of Function mutation

Back 151

New or enhanced activity of the protein

Front 152

Dominant Negative

Back 152

Gene product acts antagonistically to the normal phenotype. Example of haploinsufficiency

Front 153

Achondroplasia pathogenesis

Back 153

Affects receptor FGFR3; growth now stops in the absence of the ligand

Front 154

Mutation associated with Achondroplasia

Back 154

Missense, gain-of-function mutation at G380R

Front 155

Transmission of Achondroplasia

Back 155

Incomplete, autosomal dominant

Front 156

Transmission of CF

Back 156

Autosomal recessive

Front 157

Pathogenesis of CF

Back 157

Affects chlorine channel (CFTR); in nl pts, salt is pumped out, so water follows (keeps mucous from getting too thick)

Front 158

Type of mutation in CF

Back 158

Loss of Function mutation

Front 159

Transmission of muscular dystrophy

Back 159

X-linked recessive

Front 160

Pathogenesis of muscular dystrophy

Back 160

Mutation in dystrophin gene (usually deletion), lack of dystrophin results in lack of bridging in muscle fibers

Front 161

Marfan Syndrome transmission

Back 161

Autosomal dominant; dominant-negative

Front 162

Pathogenesis of Marfan Syndrome

Back 162

Affects FDN1 gene; defect in CT

Front 163

Transmission of neurofibromatosis

Back 163

Autosomal dominant, often mosaic

Front 164

Pathogenesis of neurofibromatosis

Back 164

Affects gene that slows down cell signaling that drives cell proliferation

Front 165

Transmission of osteogenesis imperfecta

Back 165

Autosomal dominant

Front 166

Difference between Type I and Type II OI

Back 166

Type I is mild; null mutation results in deficiency in Type I collagen
Type II is fatal; dominant-negative effect

Front 167

Carrier frequency in autosomal recessive

Back 167

2p

Front 168

Disease frequency in autosomal dominant

Back 168

2p

Front 169

Function of transposase

Back 169

Transposons; makes blunt cuts around donor DNA and staggered around target; ligates

Front 170

Structure of transposon product

Back 170

D. repeat, I. repeat, transposon, I. repeat, D. repeat

Front 171

First step of retrotransposons

Back 171

RNA polymerase makes RNA intermediate of DNA transposon

Front 172

Second step of retrotransposons

Back 172

Reverse transcription to get DNA intermediate

Front 173

Third step of retrotransposons

Back 173

Transposase nicks target DNA, transposon is inserted

Front 174

Structure of LTRs

Back 174

Direct repeats

Front 175

Function of ORF2

Back 175

Endonuclease and reverse transcriptase in non-LTR retrotransposons

Front 176

Function of ORF1

Back 176

Encoded by non-LTR r.transposon. RNA binding, transports RNA to nucleus

Front 177

Non-LTR retrotransposons are flanked by:

Back 177

AT-rich regions

Front 178

Function of HATS

Back 178

(Histone acetyltransferases)Acetylate lysine on histone

Front 179

Function of HDACs

Back 179

(Histone deacetylases)Remove acetylation on histone

Front 180

Function of HMTs

Back 180

(Histone methyltransferases) Adds methyl groups to lysine

Front 181

Function of KDM

Back 181

(Histone Lysine Demethylase) removes methyl groups

Front 182

HP1

Back 182

(Heterochromatin protein 1) Chromatin condensation, recruits more HP1 to bind to methyl groups in adjacent histones

Front 183

Function of MeCP2

Back 183

(Methyl CpG Binding Protein 2) Recognizes methylated cytosine; recruits HDAC and HMT for transcription repression

Front 184

Function of Rad51

Back 184

Role in homologous recombination during double strand break repair; binds to ssDNA and invades dsDNA

Front 185

Function of PAR

Back 185

(Pseudoautosomal regions) enable pairing of the X and Y chromosomes

Front 186

Cause of NAHR

Back 186

Repeated sequence flanking a gene lead to misalignment between chromosomes; canr esult in mutations

Front 187

Function of dihydrofolate reductase

Back 187

Converts folated to FH4 in 2 steps

Front 188

End product of purine degradation

Back 188

Uric acid

Front 189

Function of glutamine phosporibosyl amidotransferase

Back 189

Rate limiting step in purine sythesis: adds amine group

Front 190

Make NDP from NMP

Back 190

Base-specific. Nucleoside monophosphate kinase phosphorylates NMP

Front 191

Make NTP from NDP

Back 191

Broad specificity. Nucleoside diphosphate kinase phosphorylates NDP

Front 192

Function of ribonucleotide reductase

Back 192

Rate limiting in d.nucleotide synthesis. Converts ribo. diphosphate form to deoxy. diphosphate form

Front 193

Function of deoxycytidylate deaminase

Back 193

Converts dCMP to dUMP

Front 194

What converts dCMP to dUMP

Back 194

Deoxycytidylate deaminase

Front 195

What converts ribo. diphosphate to deoxy. diphosphate

Back 195

Ribonucleotide reductase

Front 196

Function of Thymidylate synthase

Back 196

Converts dUMP to dTMP

Front 197

What converts dUMP to dTMP

Back 197

Thymidylate synthase

Front 198

Regulation of ribonucleotide reductase

Back 198

ATP activates, dATP inhibits. Regulates deoxynucleotide formation

Front 199

Function of pancreatic nucleases

Back 199

Breaks down dietary DNA/RNA into oligonucleotides in nucleic acid catabolism

Front 200

Function of phosphodiesterases

Back 200

Breaks down oligonucleotide into nucleotide in nucleic acid catabolism

Front 201

Function of phosphatases and nucleotidases

Back 201

Converts nucleotides to nucleosides in n. acid catabolism

Front 202

Function of adenosine deaminase

Back 202

Converts adenosine to inosine in purine catobolism (iosine then becomes hypoxanthine)

Front 203

Function of xanthine oxidase

Back 203

Degrades hypoxanthine -> xanthine -> uric acid

Front 204

Cause of gout

Back 204

Elevated uric acid

Front 205

Tx of gout

Back 205

Allopurinol is a hypoxanthine analog; x. oxidase acts on it instead of hypo. Reduces uric acid

Front 206

Function of RNase H

Back 206

Removes primer in DNA synthesis

Front 207

Sanger target selection

Back 207

PCR (one exon at a time)

Front 208

Sanger sequencing

Back 208

No separation of molecules. Mixture of reads w/ and w/o variant. Qualitative

Front 209

NGS

Back 209

Molecules separated, 1 sequence is read per molecule. Quantitative

Front 210

Problems with NGS

Back 210

High homology, repeat expansions, large in/del, and copy number variants

Front 211

Comparative Genomic Hybridization (CGH)

Back 211

Pt and control DNA are fluoro labeled. Compete to attach to microarray. Scanner measures fluorescent signals

Front 212

Single nucleotide polymorphism (SNP)

Back 212

Two or more version of a sequence present in at least 1% of the population. Most involved replacing C with T

Front 213

Challenges of SNP analysis in CA

Back 213

Aneuploidy, mosaicism, intratumor heterogeneity

Front 214

Carrier testing

Back 214

Ppl at high risk to be carriers due to FHx

Front 215

Carrier screening

Back 215

Ppl with no FHx, but population risk

Front 216

Haplotype

Back 216

Group of alleles that are so closely linked there is unlikely to be recombination

Front 217

LOD score function

Back 217

Tests whether data suggests two loci are linked or not. Positive score supports linkage (3+)

Front 218

Calculate LOD score

Back 218

likelihood of pedigree if linked/likelihood of not linked

Front 219

How to find error in linkage analysis

Back 219

Map distance between polymorphism and disease gene

Front 220

Association

Back 220

A particular marker is found significantly more or less frequently with the disease

Front 221

GWAS (Genome-Wide Association Studies)

Back 221

Manhattan plot: scatter plot, if point above a certain value, then it suggests the chromosomal regions are linked to risk of the disease

Front 222

Use of Southern Blot

Back 222

Detects large changes in size or methylation of DNA

Front 223

Use of ASOs (Allele Specific Oligonucleotides)

Back 223

Detects specific, often single-base, changes. Can be used as primers for PCR or probes for hybridization

Front 224

Use of biochemical genetic testing

Back 224

Study the amount/activity level of proteins/metabolites. Often used in newborn screening

Front 225

How to diagnose PKU

Back 225

Serum Phe >20mg%, positive neonatal screen (tandem mass spec) between 1 and 7 days old

Front 226

PKU Treatment

Back 226

Dietary restrictions and family counseling

Front 227

Carrier testing in Tay-Sachs

Back 227

HexA enzymatic assay; activity markedly reduced in carriers. Most common in ashkanazi jewish, then N.A. caucasian

Front 228

Complications in Tay-Sachs carrier testing

Back 228

Pseudodeficiency alleles; activity is only abnormal against synthetic substrate. Mist ise molecular genetic testing

Front 229

Tay-Sachs diagnosis

Back 229

HexA deficiency; accumulation of lipids

Front 230

How does PCR detect repeats

Back 230

Variation in number of repeats results in size variation of segments

Front 231

Function of APEI

Back 231

Endonuclease in BER; cleaves DNA backbone

Front 232

Function of MLH1/PMS2

Back 232

Endonuclease in MMR

Front 233

Function of Ku70/80

Back 233

Recognizes broken ends in NHEJ; acts as scaffold for other proteins

Front 234

First step of ssHR

Back 234

When replication for collapses, exonuclease acts on broken end

Front 235

Second step of ssHR

Back 235

RecA mediated strand invasion, followed by Holliday structure formation

Front 236

Relation of FMR1 and Fragile X Syndrome

Back 236

Encodes FMRP (protein important for mRNA transport). Transcription is blocked by methylation in Fragile X

Front 237

Pathogenesis of myotonic dystrophy

Back 237

Class 2 disorder. Sequesters proteins used for splicing

Front 238

Function of core/basal promoter

Back 238

Put RNA Pol II on transcription start site

Front 239

Function of RNPs

Back 239

(Ribonucleoprotein particles) prevent secondary structure formation, RNA splicing, and mRNA transport. Bind to pre-mRNA

Front 240

Function of snRNAs

Back 240

Bind to splice junctions and/or consensus sequence

Front 241

Regulators of splicing

Back 241

Exonic splicing enhancers (ESE), ST proteins, and cross-exon recognition complex

Front 242

Function of Exonic splicing enhancers

Back 242

Regulation of splicing

Front 243

Function of SR proteins

Back 243

Regulation of splicing

Front 244

Function of cross-exon recognition complex

Back 244

Regulation of splicing

Front 245

Function of PABPN1

Back 245

Nuclear Poly(A)-binding protein, promotes fast polyadenylation

Front 246

Function of FG nucleoporins

Back 246

Barrier for diffusion of large macromolecules

Front 247

Processing of rRNA

Back 247

Trim larger rRNA down and methylate some nucleotides

Front 248

Processing of tRNA

Back 248

Trimming both ends of pre-tRNA, adding a CCA to the 3' end (site where amino acid is added), chemical modification of nucleotides, intron splicing

Front 249

Two regulations of transcription

Back 249

Chromatin condensation and transcriptional initiation

Front 250

Function of TFIIH

Back 250

Transcrtiption. Helicase and kinase (phos. the CTD of RNA Pol II)

Front 251

Function of SWI/SNF

Back 251

Chromatin remodeling. Slides DNA along nucleosomes or changes DNA conformation to expose regulatory regions

Front 252

Deamination

Back 252

Passive DNA demethylation

Front 253

Most common CF mutation

Back 253

F508 mutation

Front 254

Function of aminoacyl-tRNA synthetase

Back 254

Triggers tRNA linking to amino acid

Front 255

Function of Hsp (heat shock protein)

Back 255

Chaperone; stabilizes unfolded protein

Front 256

RNase + RNA-binding protein function

Back 256

Inactivates translation, promotes deadenylation

Front 257

Deamination of A to I causes what?

Back 257

I binds to C instead of U

Front 258

A to I editing of miRNAs results in?

Back 258

Can change target genes

Front 259

Function of XRN1

Back 259

Endonuclease in RNA degradation

Front 260

Function of exosome

Back 260

Exonuclease in RNA degradation

Front 261

Function of eIF2 kinases

Back 261

Respond to environmental stress; in stress, phosporylates eIF2, inhibiting translation