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MCP > Unit 1 > Flashcards

Unit 1 Flashcards

0
Q

membrane glycoproteins are oriented in the ER membrane with their carbs on the ____ side of the membrane

A

lumenal

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1
Q

enzyme that attaches carbs to Asn residues in proteins

A

oligosacharyltransferase

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2
Q

blood type allele encoding non functional enzyme

A

O

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3
Q

glycoprotein component of mucus

A

mucins

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4
Q

endoglycosidases remove ___ from glycoproteins

A

carbs

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5
Q

site of glycoprotein degradation

A

lysosome

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6
Q

carbs attached to proteins Ser and Thr residues are:

A

O linked

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7
Q

a function of mucus secretion

A

lubrication, protection from noxious substances

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8
Q

O blood group allele relative to A and B

A

recessive

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9
Q

protein with oligosaccharides attached

A

glycoprotein

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10
Q

diseases caused by defects in proteoglycan degradation

A

mucopolysaccharidoses

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11
Q

enzyme that cleaves bonds between sugars

A

glycosidase

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12
Q

ABO blood group antigens are oligosaccharide components of glycoproteins and ____

A

glycolipids

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13
Q

enzymes that cleave proteins into aa’s

A

proteases

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14
Q

membrane glycoproteins are oriented in the plasma membrane with their carbs on the ____ side of the membrane

A

EC

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15
Q

linear or branched polymer of sugars

A

polysaccharides

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16
Q

encoded by the ABO gene locus

A

glycosyltransferase

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17
Q

protects epithelial cells from noxious substances

A

mucins

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18
Q

sugar polymer containing a repeating disaccharide

A

glycosaminoglycan

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19
Q

Cys residues in mucins allow them to

A

polymerize

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20
Q

protein with glycosaminoglycan chains attached

A

proteoglycan

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21
Q

individuals with AB blood have alleles that are

A

codominant

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22
Q

O linked glycosylation occurs here

A

Golgi

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23
Q

individuals with O blood are considered universal ____

A

donors

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24
Q

failure to degrade glycosaminoglycans

A

mucopolysaccharidosis

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25
Q

where and how are glycoproteins degraded in the cell

A

lysosomes with hydrolases

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26
Q

what chemical property of glycosaminoglycans allows them to form lubricants and gels

A

hydrophilic, strongly - charge due to sulfates and carboxyl groups, attract water

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27
Q

where are mucins found

A

GI, resp, genitourinary tracts

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28
Q

synthesis of N linked glycoproteins

A

occurs in ER co translationally

added as a block of sugars

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29
Q

synthesis of O linked glycoproteins

A

in Golgi post translationally

added one at a time

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30
Q

what class of enzyme is responsible for adding sugars to O linked glycoproteins

A

glycosyltransferases

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31
Q

what is the structural difference between a glycoprotein and a proteoglycan?

A

glycoprotein–no serial repeat, mostly protein

proteoglycan–serial repeat, mostly sugar

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32
Q

oligosaccharide

A

3-15 sugars covalently bound in linear or branched chain (eg ABO blood group antigens)

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33
Q

polysaccharide

A

long linear or branched polymer of sugars (eg glycosaminoglycans, glycogen, starch)

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34
Q

glycosidase

A

cleaves glycosidic bond (b/w two monosaccharides)

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35
Q

glycosyltransferases

A

form glycosidic bonds

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36
Q

oligosaccharyltransferase

A

transfers a pre-formed oligosaccharide from its lipid anchor to an appropriate Asn residue in a polypeptide during N linked glycosylation in the ER

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37
Q

linear polymer of a repeating disaccharide unit with many negative charges on carboxyl and sulfate groups, form gels

A

glycosaminoglycan

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38
Q

Inclusion cell disease

A

defect adding M6P tag on lysosomal hydrolases

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39
Q

digestion of obsolete cell parts

A

autophagy

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40
Q

return to a different plasma membrane domain in a polarized cell

A

transcytosis (antibody transfer via breastmilk)

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41
Q

uptake of cholesterol from blood to make new membranes

A

receptor mediated endocytosis

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42
Q

defective LDL receptors so cholesterol uptake is blocked and builds up in blood, leads to heart attack

A

familial hypercholesterolemia

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43
Q

_____ exocytosis pathway: all proteins passing through the Golgi will enter this pathway unless directed elsewhere by a specific signal, vesicles bud from trans Golgi and fuse with plasma membrane, operates continuously

A

default

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44
Q

_____ exocytosis pathway: specialized secretory cells, use secretory vesicles, only in response to an EC signal

A

regulated

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45
Q

most cells have a thick layer of carbohydrate on their cell surface known as:

A

glycocalyx

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46
Q

enzyme that removes the carb from the protein

A

endoglycosidase

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47
Q

where O linked sugars are built

A

Golgi

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48
Q

trans Golgi sorts into these three destinations:

A

lysosome, plasma membrane, secretory vesicle

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49
Q

where N linked oligosaccharides are modified

A

Golgi

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50
Q

entry face of ER

A

cis

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51
Q

exit face of Golgi

A

trans

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52
Q

determinant of cell shape

A

cytoskeleton

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53
Q

organelle contiguous with nuclear envelope

A

ER

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54
Q

cell’s permeability barrier

A

plasma membrane

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55
Q

component of thin filaments

A

actin

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56
Q

ribosomal RNA synthesis site

A

nucleolus

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57
Q

protein degradation signal

A

ubiquitin

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58
Q

toxin clean up site

A

peroxisome

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59
Q

protein synthesis machines

A

ribosome

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60
Q

chromosome home

A

nucleus

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61
Q

mtDNA shape

A

circular

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62
Q

microtubule organizing center

A

centrosome

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63
Q

process that produces most of a cell’s ATP

A

ox phos

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64
Q

worn out organelles are digested here

A

lysosome

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65
Q

proteins synthesized in ER are modified in

A

Golgi

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66
Q

ATP generating powerplants

A

mitochondria

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67
Q

structures that form poles of the mitotic spindle

A

centrioles

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68
Q

double membrane protecting the genome

A

nuclear envelope

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69
Q

cell interior minus nucleus

A

cytoplasm

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70
Q

sorting station for endocytosed material

A

endosome

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71
Q

cytoskeletal element that arranges organelles

A

microtubules

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72
Q

extensively folded mitochodrial membrane forms

A

cristae

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73
Q

sea in which organelles reside

A

cytosol

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74
Q

lysosomal enzymes work best at __ pH

A

low

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75
Q

small organelles containing enzymes involved in oxidative reactions that break down lipids and destroy toxic molecules

A

peroxisomes

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76
Q

responsible for the transcription and processing of rRNAs and for assembly of ribosomal subunits

A

nucleolus

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77
Q

cylindrical protein degradation machines located in the cytoplasm

A

proteasomes

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78
Q

subunit for microtubule assembly

A

tubulin dimer

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79
Q

nucleotide bound to subunit of microtubule

A

GTP

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80
Q

cytoskeletal element most important for changes in cell shape

A

actin based microfilaments

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81
Q

filaments that provide strength to axons in the nervous system

A

neurofilaments

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82
Q

neurofilaments are a special type of

A

intermediate filament

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83
Q

centrosomes are assembly sites for

A

microtubules

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84
Q

kinesins move toward the __ ends of microtubules

A

+

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85
Q

dyneins carry ___ in a cilium

A

doublet microtubules are both track and cargo in cilium (so they can bend)

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86
Q

why is ciliary assembly essential for vision

A

rod and cone

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87
Q

cytoskeletal element with no structural polarity, not used as motility tracks, high tensile strength

A

intermediate filaments

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88
Q

specific enzyme defect produces a metabolic block, accumulation of substrate, deficiency of product

A

inborn error of metabolism

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89
Q

three distinct phenotypes from mutations of a single gene

A

phenotypic heterogeneity

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90
Q

mutations in different genes lead to same clinical phenotype

A

locus heterogeneity

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91
Q

stage in mitosis when chromosomes separate

A

anaphase

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92
Q

stage when chromosomes are best visualized

A

metaphase

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93
Q

nondisjunction during meiosis I results in daughter cells that are:

A

2-heterodisomic for A1 and A2

2-nullosomic for A1 and A2

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94
Q

nondisjunction in meiosis II results in daughter cells that are

A

2-normal
1-isodisomic A2 and A2
1-nullosomic for A

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95
Q

phase of recombination

A

prophase

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96
Q

stage of reductive division

A

anaphase I

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97
Q

meiosis of oocytes completed after

A

fertilization

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98
Q

primary oocyte arrested in ___ until ___

A

prophase I, ovulation

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99
Q

nucleotide

A

sugar, base, phosphate grp

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100
Q

nucleoside

A

sugar, base

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101
Q

bases with one ring

A

pyrimidines, CUT

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102
Q

bases with two rings

A

purines, AG

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103
Q

differentiation between A and G

A

G =O (big “GUst of AIR on my way to work”)

A does not have it

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104
Q

how to remember T

A

Tom does meth

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105
Q

how to remember C

A

Amy is a sight to see

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106
Q

number of base pairs per turn

A

10.5

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107
Q

angstroms per turn of B DNA

A

34A

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108
Q

base pairing: instead of anti conformations, bases are syn/anti, forms triple helix

A

hoogsteen

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109
Q

DNA is ___ stable at high pH

A

less

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110
Q

parts of chromosome responsible for accurate segregation of sister chromatids after chromosome replication, rich in ___ base pairs

A

centromeres, AT

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111
Q

telomeres are rich in ___ base pairs

A

GC

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112
Q

chromatin used for transcription

A

euchromatin

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113
Q

silenced chromatin

A

heterochromatin

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114
Q

enzyme that cuts strands to relieve topological stress

A

topoisomerase

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115
Q

attached to nuclear envelope, provides support and attached to chromatin

A

lamina

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116
Q

process that causes lamina disassembly during cell division

A

phosphorylation

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117
Q

Ran GAP is on the ___ side of the nucleus with higher concentrations of ___

A

cytoplasmic, GDP

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118
Q

Ran GEF is on the ___ side of the cell with higher concentrations of ___

A

nuclear, GTP

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119
Q

___ molecules are exported from the nucleus using Ran

A

RNA

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120
Q

___ molecules are transported into the nucleus using Ran

A

protein

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121
Q

4-8 aa’s on a protein recognized by importin

A

nuclear localization signal

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122
Q

in the nucleolus, DNA in the ____ is not being transcribed

A

fibrillar center

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123
Q

in the nucleolus, rRNA molecules are being synthesized in this compartment

A

Dense Fibrillar Component

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124
Q

in this part of the nucleolus, there are maturing ribosome precursors

A

A Granular Component

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125
Q

rRNA precursor strand for ribosome synthesis

A

45 S

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126
Q

components of the small ribosomal subunit

A

18s rRNA

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127
Q

components of the large ribosomal subunit

A

5.8s, 28s, and 5s from elsewhere

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128
Q

test ribosomal translation before leaving nucleus

A

pioneering

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129
Q

mobile DNA elements

A

transposons

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130
Q

copies of true genes

A

pseudogenes

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131
Q

parts of DNA that code for product

A

exons

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132
Q

parts of DNA that are removed

A

introns

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133
Q

histone octomer contains ___

A

H2A, H2B, H3, H4

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134
Q

30nm fiber is held together by which histone

A

H1

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135
Q

use of N-terminal tail domains on histones

A

Histone code, post translational modifications (acetylation, methylation) which alter local chromatin structure and therefore gene expression

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136
Q

part of the nucleus composed of proteins, provides structure and organization, chromosomes in it have distinct territories

A

nuclear matrix

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137
Q

how chromosomes are attached to the matrix

A

MARs matrix associated regions

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138
Q

autoimmune disease, body makes antibodies to own nuclear antigens

A

sytemic lupus erythmatosus

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139
Q

cancer caused by mutation in nuclear PML protein

A

acute promyelocytic leukemia

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140
Q

mutation in SMN (survival of motor neurons) part of protein involved in RNA processing

A

spinal muscular atrophy

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141
Q

genes encoded on acrocentric chromosome stalk arms

A

for rRNA

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142
Q

capped telomere on acrocentric short arm

A

satellite

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143
Q

normal variation in chromosome banding

A

chromosome polymorphism

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144
Q

number of complete sets of chromosomes N, 2N, 3N

A

euploidy

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145
Q

gain or loss of chromosomes less than a complete complement

A

aneuploidy

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146
Q

how to get aneuploidy

A

meiotic OR mitotic nondisjunction in anaphase I

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147
Q

normal embryo with mitotic error that gives rise to some cells with three copies of chromosome, acquired

A

mosaicism

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148
Q

how to get testes, androgen

A

TDF/SRY

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149
Q

females have ___ of Müllerian ducts

A

proliferation

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150
Q

males have ____ of Wolffian ducts

A

proliferation

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151
Q

when does X inactivation occur

A

3-7 days into development

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152
Q

how many Barr bodies does a cell have

A

number of X chromosomes - 1

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153
Q

is x inactivation random or nonrandom

A

random (if non random due to structural abnormality, females could express X linked diseases)

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154
Q

how are X chromosomes inactivated

A

epigentically, with methylation

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155
Q

____ region of chromosome escapes X inactivation

A

psueoautosomal

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156
Q

phase when DNA replicates

A

interphase

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157
Q

Meselson-Stahl experiment showed that DNA replication is __

A

semi conservative

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158
Q

what stops DNA from replicating throughout cell cycle

A

cyclin dependent kinase

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159
Q

a mutation in MMR gene leads to this phenotype, causes this disease

A

mutator phenotype, non polyposis colon cancer

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160
Q

polymerases used in event of a DNA lesion to minimize damage

A

error prone DNA polymerase, by template switching or hopping over it

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161
Q

defect in replication stress response can lead to these two diseases

A

AT, Bloom Syndrome

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162
Q

how does AZT work

A

chain terminator, nucleoside analog

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163
Q

how does camptothecin work

A

targets Topoisomerase I

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164
Q

environmental DNA damaging agents

A

mutagens

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165
Q

how to repair template independent damage

A

direct reversal by photolyase

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166
Q

how to repair single strand DNA damage

A

BER, MMR, NER

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167
Q

how humans repair double strand breaks

A

non homologous end joining

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168
Q

disease caused by defective NER

A

xeroderma pigmentosum

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169
Q

head group of membrane lipids contains

A

OH group

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170
Q

longer and more saturated chains are ___ fluid (more/less)

A

less

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171
Q

cis double bond causes kinks, resulting in ___ fluid membrane (more/less)

A

more

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172
Q

characteristics of cholesterol

A

lots of rings, only hyrophilic structure is the OH group on the end

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173
Q

sphingosine backbone with a sugar attached to primary OH group

A

glycolipid

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174
Q

hydrophilic part of sphingomyelin

A

phosphoryl choline

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175
Q

primary force driving formation of lipid bilayers

A

hydrophobic effect

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176
Q

effect of cholesterol on membrane fluidity

A

overall, decreases, but increases fluidity at border of cholesterols bc chains can’t organize

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177
Q

lipid bilayer is most impermeable to ____

A

ions

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178
Q

four ways drugs can enter cells

A

passive diffusion, hijack transporters, liposome delivery, protein transduction

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179
Q

how to remove integral membrane protein

A

harsh detergent

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180
Q

lipid rafts are involved in _____

A

signal transduction, protein sorting and recognition, viral entry or exit from cell

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181
Q

actin monomer binds _ and _

A

Mg and ATP

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182
Q

____ form by self assembly of actin monomers

A

microfilaments

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183
Q

adding units bound to ATP at one end, losing units bound to ADP at other end of microfilament

A

treadmilling

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184
Q

combination of plasma membrane and underlying mesh of crosslinked actin filaments

A

cell cortex

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185
Q

parallel, unbranched microfilaments

A

filopodia

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186
Q

branched, extensions of cell membrane, ARP mediated, involved in migrating cell

A

lamellipodia

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187
Q

contractile ring of microfilaments found in a ____ cell

A

dividing

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188
Q

type of myosin that doesn’t form filaments. Monomeric, stand alone vesicle vector. Tails associate with membranes.

A

Myosin I

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189
Q

type of myosin that assembles into bipolar filaments, heads face opposite directions, doesn’t move

A

Myosin II

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190
Q

what activates myosin

A

phosphorylation of associated proteins (caused by change in Ca concentration)

191
Q

myosin regulation is known as ____

A

thick filament based regulation

192
Q

regulation of muscle contraction is known as

A

thin filament (or actin) based regulation, faster

193
Q

troponin’s role

A

positions tropomyosin on actin filament. binds to Ca, tropomyosin, and actin

194
Q

role of tropomyosin

A

covers (or uncovers, in presence of Ca) myosin binding site on actin

195
Q

how Ca is released into muscle cell

A

AP to transverse tubules to SR to voltage gated channels, releases Ca

196
Q

myosin pulls toward the __ end of the actin

A

+

197
Q

how is the sarcomere array anchored to the plasma membrane

A

dystrophin

198
Q

the ____ is divided into sarcomeres

A

myofibril

199
Q

how are myofibrils connected to each other

A

desmin intermediate filaments

200
Q

how is myosin held in place in the sarcomere

A

titin

201
Q

what separates myofibrils

A

SR

202
Q

myosin during rigor state

A

bound to actin, NO ATP

203
Q

myosin during release

A

ATP BOUND, myosin head lowers affinity for actin

204
Q

myosin when cocked

A

ATP hydrolysis causes translocation of myosin head, weak affinity for actin

205
Q

myosin during Force Generating step of muscle contraction

A

phosphate dissociates, increased affinity of myosin for actin, activates power stroke

206
Q

myosin during attached phase of muscle contraction

A

ADP dissociates as myosin head returns to original position

207
Q

47, XXX

A

female, often undected, fully fertile, generally have chromosomally normal children

208
Q

47, XYY

A

male, often undetected, normal, due to a nondisjunction error in the father

209
Q

47, XXY

A

Klinefelter syndrome. Male with some female characteristics bc of week of development before X was inactivated. post pupertal hypogonadism, infertility

210
Q

45, X

A

Turner syndrome. female, short stature, webbed neck in utero, usually infertile. 10% are mosaics, ratio of normal to abnormal determines severity (and a 46XY/45X can be either male or female. fine for males, detrimental for females)

211
Q

XY female

A

androgen insensitivity, mutation of androgen receptor gene on long arm of X chromosome, +TDF/SRY, infertile

212
Q

XX “Male”

A

can be treated, due to biochemical imbalance, virilization of female fetus that has congenital adrenal hyperplasia, lack of enzyme that allows androgens to build up in the body, male appearing infant

213
Q

XX male is due to

A

an error in recombination during male meiosis. Balanced translocation with no clinical significance unless father passes X chromosome onto child

214
Q

terminal deletion, Greek Warrior’s helmet facial expession

A

Wolf Hirschhorn Syndrome

215
Q

parents are normal but child has a deletion

A

de novo interstitial deletion

216
Q

a duplication of the critical region of chromosome 21 can result in

A

Down Syndrome

217
Q

reciprocal translocation risk

A

for chromosomally abnormal children

218
Q

balanced translocation carrier with no risk to children

A

alternate segregation

219
Q

balanced translocation carrier with risk to children

A

adjacent 1 segregation, adjacent 2 segregation, 3:1 segregation

220
Q

translocation variant of standard reciprocal translocation, occurs only between two acrocentric chromosomes, only 45 total chromosomes but full content of DNA. Increased risk of ____

A

Robertsonian, nondisjunction

221
Q

inversion when breaks occur on opposite sides of the centromere

A

pericentric

222
Q

inversion on same side of centromere

A

paracentric, usually benign

223
Q

An alteration in the DNA which has a population frequency less than 1%

A

rare genetic variant

224
Q

Tay Sachs method of inheritance

A

autosomal recessive

225
Q

presence in males of a single allele at X linked loci is:

A

hemizygosity

226
Q

associated with rare autosomal recessive disorders

A

consanguinity in the parents of a proband

227
Q

a mosaic individual has two or more cell lines of different genotypes derived from a ___ zygote

A

a single zygote

228
Q

all or none expression a genetic disease genotype

A

penetrance

229
Q

the occurrence together in a population of two or more alleles, each at a frequency greater than 1%, so that the heterozygote frequency is at least 2%

A

polymorphism

230
Q

MOI hemophilia A

A

XLR

231
Q

MOI CF

A

AR

232
Q

MOI a-1 Antitrypsin def

A

AR

233
Q

MOI DMD

A

XLR

234
Q

MOI Tay Sachs

A

AR

235
Q

MOI sickle cell

A

AR

236
Q

MOI a and B Thalassemia

A

AR

237
Q

MOI HD

A

AD

238
Q

MOI DM

A

AD

239
Q

DM disease stands for

A

diabetes mellitus

240
Q

the proportion of the phenotypic variance caused by additive genetic variance

A

heritability

241
Q

traits that are influenced by environmental factors, the recurrence risk is higher the more family members that are affected, gene-environment interactions, the more severe the malformation the greater the risk

A

multifactorially determined traits

242
Q

when an allele/mutation is at a frequency of 1% or greater (2% or more of individuals will carry at least one autosomal copy)

A

polymorphism

243
Q

genes/loci close together on the same segment of chromosome are said to form____ which tend to travel together through meiosis

A

haplotypes

244
Q

distance between genes measured in centiMorgans

A

recombination distance

245
Q

one centiMorgan represents approximately ______ base pairs

A

1 million

246
Q

one centiMorgan represents a __% chance of crossover

A

1%

247
Q

term used to describe co-segregation as two loci tend to travel together through meiosis

A

Linkage Disequilibrium

248
Q

in linkage studies, neutral/benign mutations _____ a gene (what kind of marker) are better than those _____ a gene

A

within (intragenic marker); flanking

249
Q

a sibling of a known carrier with no affected siblings has a __ chance of being a carrier of an autosomal recessive mutation

A

half

250
Q

mother of an affected son that follows Haldane’s Rule has a __ chance of being a carrier

A

2/3

251
Q

phase is known when:

A

alleles at two loci are known to occur on the same homologous chromosome, alleles at two loci are known to occur on the opposite homologous chromosome, you can tell which haplotype came from which parent, haplotypes can be constructed

252
Q

estimating the distance between the disease and the marker

If the recombination distance between the marker and the disease is 15cM, what is the real physical distance between the marker and the disease

A

the further apart, the more a two point recombination rate will underestimate the physical distance because of the increasing influence of double crossovers.

about 20 Megabase

253
Q

if two loci are within 50cM of each other, they must/may not be on the same chromosome

A

must be on the same chromosome

254
Q

three classes of mutations

A

linked extragenic markers, intragenic markers, disease causing-mutations

255
Q

_____ binding of a ligand (signaling molecule) to a receptor protein on a cell induces a conformational change in the receptor, triggering changes in other molecules inside the cell

A

non covalent

256
Q

receptor conformational change results in a change in ___ if the receptor is an enzyme, or a change in ____ for another molecule if the receptor lacks enzymatic activity

A

activity, affinity

257
Q

molecules inside the cell that carry the signal away from the receptor

A

second messengers

258
Q

the concentration of a signaling molecule depends on the rate at which new molecules ___ and the rate at which they are ____

A

appear, removed

259
Q

rapid changes in signal strength require a (short/long) signal half life

A

short

260
Q

cell responses to a particular signal depend on

A

signal molecule [ ]
number of available receptors
receptor affinity for signaling molecule
expression of tissue or cell type specific second messenger systems

261
Q

long term changes in signaling molecule concentration often cause target cell ____

A

adaptation

262
Q

ways to accomplish target cell adaptation

A

change number of available receptors, affinity of receptor for its ligand, response sensitivity of second messenger pathways to receptor activation

263
Q

fewer receptors = (more/less) sensitive cell

A

less

264
Q

the same type of receptor (can/does not) activate different second messengers in different cells

A

can

265
Q

two signal molecules (may/may not) act through the same second messenger

A

may–a boost in the concentration of one signal makes the cell more sensitive to the other one

266
Q

types of signaling that occur over short distances

A

autocrine, paracrine, synaptic

267
Q

signals carried through bloodstream

A

endocrine

268
Q

signals that originate outside the organism

A

sensory

269
Q

endocrine signals in (low/high) concentrations with (low/high) affinity receptors

A

low concentration, high affinity receptors

270
Q

neurotransmitters have (low/high) concentrations with (low/high) affinity receptors

A

high concentrations, low affinity

271
Q

examples of small rapidly diffusing signal molecules with short half lives

A

NO, CO

272
Q

what signal molecule regulates smooth muscle contraction

A

NO

273
Q

how are hydrophobic molecules like steroids, retinoids, and thyroid hormones carried throughout the blood

A

binding proteins

274
Q

eicosinoids

A

hydrophobic molecules that bind surface receptors, derived from phospholipids and include prostaglandins
short half lives, autocrine signals

275
Q

action of anti inflammatories like cortisone and aspirin

A

inhibit synthesis of eicosinoids

276
Q

examples of sensory signals

A

light, sound, chemicals (smells and tastes)

277
Q

nuclear receptors are used for what kind of signals and what do they do

A

used for hormone binding

activate gene transcription

278
Q

example of a carrier protein for hydrophobic signal molecules like steroid hormones

A

albumin

279
Q

how are nuclear receptors activated

A

binding of ligand to receptor causes inhibitory complex to dissociate, thereby activating receptor and exposing its DNA binding site

280
Q

nuclear _____ induced by hormone binding is a mechanism common to many nuclear receptor family members

A

translocation

281
Q

genes activated by the hormone occupied receptor

A

primary response gene

282
Q

amplification as a result of nuclear receptors happens at the level of (transcription/translation)

A

transcription

283
Q

how do hydrophilic signals work? four main types

A

ligand-gated ion channels, enzyme-linked receptors, catalytic receptors, trimeric G-protein linked receptors

284
Q

different types of ion channels (four)

A

voltage gated, mechanically gated, gated by extracellular ligands (primary signals), or intracellular ligands (secondary messengers)

285
Q

the most common enzyme-linked receptors are those that stimulate membrane-associated:

A

tyrosine–specific protein kinases (such as the src kinase)

286
Q

when a neurotransmitter binds to a receptor on the post synaptic cell, what change occurs in the post synaptic cell

A

change in membrane potential

287
Q

signals that travel within a tissue

A

paracrine

288
Q

when sensitivity of a cell to ligands is decreased after prolonged exposure

A

adaptation

289
Q

eicosinoids bind (surface receptors/intracellular receptors)

A

surface receptors

290
Q

role of heterodimer formation in steroid hormone signaling

A

heterodimeric transcription factors formed by nuclear receptors allow different cell types to respond differently to the same steroid hormone
each cell type can express a different partner to make a different heterodimer

291
Q

phosphates may be added to the hyroxyl groups of which aa’s

A

serine, threonine, tyrosine

292
Q

what does phosphorylation change on/for a protein

A

activity, conformation, new interaction site

293
Q

how do you turn off a protein that is activated by phosphorylation

A

phosphatase

294
Q

some G proteins hydrolyze GTP so slowly that they effectively remain “on” unless activated by a __

A

GAP

295
Q

reactivation of the G protein requires the release of GDP and binding of GTP, which usually requires a ___

A

GEF

296
Q

two classes of G proteins

A

trimeric, monomeric

297
Q

signal-on state of a G protein

A

GTP bound

298
Q

subunits of a trimeric G protein

A

alpha, beta, gamma

299
Q

trimeric G protein subunit with the guanine nucleotide binding sites

A

alpha

300
Q

the a/b/g-GDP trimer is (active/inactive)

A

inactive

301
Q

trimeric G proteins are linked to the (cytosolic/extracellular) side of the plasma membrane by lipid tails

A

cytosolic

302
Q

when the ligand binding site of a GPCR is occupied, a trimeric G protein can bind to the intracellular part of the receptor, which stimulates ______

A

GDP-GTP exchange

303
Q

the GPCR (does/does not) bind directly to GTP

A

does not

304
Q

after the a and b/g subunits of the trimeric G protein separate, they bind to and alter the activities of:

A

membrane associated enzymes or ion channels

305
Q

events triggered by G protein activation depend mostly on which gene family the __ subunit comes from

A

alpha

306
Q

the bound GTP is (slowly/quickly) hydrolyzed and the inorganic phosphate is released (slowly/quickly)

A

slowly, quickly

307
Q

GDP dissociates (slowly/quickly) from the alpha chain of the alpha subunit in a trimeric G protein

A

slowly

308
Q

activation of Gs family members stimulates ___ raising ___ concentrations

A

adenylate cyclase, cAMP

309
Q

increased cAMP concentrations stimulate ___

A

PKA

310
Q

PKA is a _______ kinase

A

serine/threonine

311
Q

binding of alpha-s to adenylate cyclase also stimulates alpha-s ___ activity, shutting off the signal

A

GTPase

312
Q

PKA structure: _ catalytic subunits and _ regulatory subunits

A

2, 2

313
Q

if no cAMP is present, PKA catalytic subunits are _____ by the regulatory subunits

A

inhibited

314
Q

cAMP interacts with which subunits of the PKA, and causes them to do what

A

regulatory, dissociate

315
Q

how are cAMP levels lowered

A

phophodiesterase

316
Q

what does GTP hydrolysis achieve for the Gs family of G proteins

A

lowers cAMP

317
Q

activation of __ family members inhibits adenylate cyclase, reversing the effects of Gs (and alters K+ channel conductance in some cells)

A

Gi

318
Q

activation of Gq family of trimeric G proteins does what?

A

stimulates phospholipase CB, which degrades membrane phospholipids

319
Q

IP3 is made when phospholipase C cleaves phosphoinositol bisphosphate when Gq is activated. IP3 does what?

A

opens gated Ca++ channels in the ER

320
Q

when IP3 releases Ca++ from the ER, what are stimulated?

A

CAM kinases

321
Q

CAM kinases use ___, a small Ca++ binding protein, as a regulatory subunit

A

calmodulin

322
Q

resting intracellular Ca++ concentrations are (low/high)

A

very low

323
Q

activation of the Gq linked GPCR leads to activation of a myosin light chain kinase, a CAM kinase that _____ smooth muscle and non muscle myosin light chains, activating contraction

A

phosphorylates

324
Q

DAG activates ___ by increasing its affinity for Ca++, which is required for ___ (same) activation

A

PKC

325
Q

______ are tumor promoters–they irreversibly bind to and activate PKC, permanently stimulating a pathway involved in regulating cell division

A

phorbol esters

326
Q

basic mechanism of receptor kinase activation

A

receptor dimerization causes autophosphorylation of tyrosine residues in the receptor itself and stimulates kinase activity

327
Q

transphosphorylation

A

two subunits each act on each other–why dimerization is needed in tyrosine kinases

328
Q

___ domains on cytoplasmic proteins bind to phosphotyrosine groups on the receptor

A

SH2

329
Q

role of the ligand in tyrosine kinase activation

A

brings the domains together to form a dimer

330
Q

how is the signal relayed by a tyrosine kinase?

A

intracellular signaling proteins bound to phosphorylated tyrosines carry the signal into the cell’s interior

331
Q

examples of second messenger pathways of receptor tyrosine kinases

A

phospholipase C binds by its SH2 domain and stimulates IP3 and PKC pathway (same as Gq)
adaptor proteins indirectly activate monomeric G proteins of the ras family (GEF/GAP)
activated ras stimulates a MAP (mitogen activated protein kinase) cascade

332
Q

MAP cascade

A

MAP kinases are mostly serine/threonine kinases with specificity for targets important in growth control including transcription factors that regulate cyclin genes, cyclin dependent kinase inhibitors

333
Q

there is a (small/wide) range of tyrosine kinase diversity

A

wide range of diversity

334
Q

tyrosine kinase receptors have been identified as the products of genes that are mutated in human ___

A

tumors

335
Q

tyrosine kinase linked receptors

A

lacks kinase activity but dimerization stimulated by the ligand activates a separate protein tyrosine kinase associated with the receptor protein

336
Q

example of tyrosine kinase linked receptors

A

JAK-STAT pathway

337
Q

stimulation of __ activates a phospholipase, which cleaves PIP2 into IP3 and DAG. IP3 binds to ligand-gated ___ channels in the ER and releases __ (same) into the cytosol

A

Gq, Ca++

338
Q

What are SH2 domains and what role do they play in signal transduction

A

SH2 domains bind to aa’s that include phosphorylated tyrosine residues. Through binding, they change the conformation of the SH2 domain protein and signal to the rest of the cell that a receptor tyrosine kinase has been activated.

339
Q

how is PKA activated

A

cAMP through Gs

340
Q

how is PKC activated

A

by DAG through Gq

341
Q

how is CAM kinase activated

A

by calcium, through Gq or other signaling pathways that increase calcium concentrations

342
Q

the phosphorylation of one receptor molecule by another after dimerization of the receptor which passes the signal from the EC domain to the cytoplasmic domain of the receptor

A

transphosphorylation

343
Q

steps of GPCR’s that allows a signal to diffuse throughout the cell

A

cAMP and calcium

344
Q

why have tyrosine kinase genes been identified as proto-oncogenes

A

they are involved in signaling pathways that regulate passage through the cell cycle. continuous activation can lead to uncontrolled cell division

345
Q

which type of GPCR usually as the higher rate of spontaneous GTPase activity (monomeric or trimeric G proteins)

A

trimeric G proteins can self inactivate through GTP hydrolysis while monomeric G proteins generally require the activity of a GAP in order to shut off the signal

346
Q

what are connective tissues primarily composed of

A

extracellular matrix

347
Q

three parts of adhering (anchoring) junctions

A

transmembrane glycoprotein-interacts with proteins on adjacent cells or with proteins of the ECM
complex of proteins on the cytoplasmic face of the junction forming a plaque that mediates the association between the membrane protein and the cytoskeleton
cytoskeleton network-either actin or intermediate filaments

348
Q

function of adhering (anchoring) junctions

A

maintain integrity of the tissue when subjected to mechanical stress (skin, muscles)

349
Q

what would happen if adhering (anchoring) junctions didn’t have attachment to a cytoskeleton network

A

the cellular tissues would be unstable since the glycoproteins could not be pulled out of the lipid based (fluid) membrane

350
Q

two types of microfilament based adhering/anchoring junctions

A

adherens (adhesion belts), focal adhesions/focal contacts

351
Q

adherens junctions (adhesion belts) are a type of __-__ junction

A

cell-cell

352
Q

what are the major transmembrane protein component of adherens junctions (adhesion belts)

A

cadherins

353
Q

cadherins associate with identical cadherin molecules on neighboring cells via ___ interactions

A

homophilic

354
Q

plaque proteins stabilize the link to the ___ cytoskeleton (adherens junctions/adhesion belts)

A

actin

355
Q

in addition to providing strength, the positioning of adherens junctions towards the apical surface of cells allows for oriented contractions of the actin filaments to initiate an _____ of the ____ ___

A

invagination of the epithelial sheet, which can then pinch off to form a separate tube of epithelial cells

356
Q

how is the neural tube formed during embryogenesis

A

invagination of epithelial cells to form a tube using actin filaments and same-oriented epithelial cells (adherens junctions)

357
Q

epithelial sheets express _ cadherin while neural tube cells express _ cadherin

A

E, N

358
Q

focal adhesions/focal contacts are a type of ___-___ anchoring junction

A

cell-matrix

359
Q

transmembrane glycoproteins found in focal adhesions

A

integrins

360
Q

focal adhesions are a type of (hetero/homo) philic type junction

A

heterophilic junction

361
Q

____ adhesions are important in dynamic events such as cell motility in the context of cancer cell migration and metastasis

A

focal

362
Q

focal adhesions require (extracellular/intracellular) Ca++

A

extracellular

363
Q

adherens junctions (adhesion belts) require (extracellular/intracellular) Ca++

A

extracellular

364
Q

cell-cell anchoring junction, cadherins are the major membrane component, homophilic interaction between cells, plaque proteins link cadherins to the intermediate filament cytoskeleton

A

desmosomes

365
Q

cell-matrix anchoring junction with integrin as the major transmembrane glycoprotein component, link epithelial cells to underlying basal lamina in a heterophilic interaction

A

hemi-desmosomes

366
Q

integrins associate in a (homo/hetero) philic way with ECM

A

hetero

367
Q

basal lamina is a special type of

A

ECM

368
Q

desmosomal disorders (two)

A

pemphigus: autoimmune to skin desmosomal cadherin causing destabilization of cell-cell interactions
empidermolysis bulosa simplex: defect in intermediate filament assembly causing loss of integrity of desmosomes and hemi desmosomes

369
Q

functions of tight junctions

A

block paracellular transport (across sheets of epithelia) and promote transcellular transport (from gut to blood stream through epithelial cell)

370
Q

tight junctions partition membrane proteins into correct regions of the cell membrane and thereby maintain cell ____

A

polarity

371
Q

proteins composing the tight junctions (two)

A

claudin and occludin-homophilic interaction

372
Q

tight junctions (do/do not) rely on the cytoskeleton for integrity

A

do not rely on it

373
Q

gap junction function

A

communication between neighboring cells in electrically excitable cells (cardiac muscle)

374
Q

protein component of gap junctions

A

connexin (six of them form a connexon)

375
Q

small molecules can pass through gap junctions. this is important for setting up ____ gradients within epithelial sheets which can provide ___ information during embryogenesis

A

concentration, positional

376
Q

gap junctions type of association homo philic/phobic

A

homophilic

377
Q

gap junction regulation: high Ca++, low pH

A

gap junction is closed

378
Q

gap junction regulation: low Ca++, high pH

A

Gap junction is open

379
Q

____ cells generate the ECM in many connective tissues

A

fibroblasts

380
Q

____ cells generate the ECM that forms cartilage

A

chondroblasts

381
Q

____ cells generate the ECM that forms bone

A

osteoblasts

382
Q

three major structural components of the ECM that contribute to the phenotype of connective tissues

A

fibrous proteins, bulky fillers, cross linker proteins

383
Q

three types of fibrous proteins in connective tissues

A

fibrillar collagen (tensile strength), non fibrillar collagen (basal lamina, cannot form higher order fibrillar structures), elastin (allows stretching)

384
Q

fibrillar collagen characteristics

A

post translational modifcations, pro collagen triple helix, secreted collagenases cleave off propeptides, form higher order structures

385
Q

genetic disease associated with dysfunction in collagen synthesis/assembly, hyper extensible skin

A

Ehlers Danlos Syndrome

386
Q

mutations in fibrillin gene are the cause of ____ syndrome, a condition that results in weak artery walls (severe cases-rupturing of the aorta)

A

Marfans Syndrome

387
Q

characteristics of bulky fibers

A

complex proteoglycan molecule–protein backbone with serine residues, sugar side chains undergo carboxylation and sulfation so they have a (-) charge which attracts H2O and makes a gel

388
Q

primary function of bulky fibers

A

to fill space and permit the movement of water soluble molecules and cells

389
Q

cross linker proteins (fibroconectin and laminin) functions

A

link cellular tissue layers to connective tissue layers

390
Q

fibroconectin is a dimer held together by disulfide bonds. It has binding sites for:

A

heparin, cell surface receptors (integrins), collagen (not type IV), fibrin, syndecan (focal adhesions)

391
Q

lamin binds to __________ unlike fibroconectin

A

type IV collagen

392
Q

two types of junctions that do not utilize interactions with the cytoskeleton

A

gap junctions and tight junctions

393
Q

basal lamina is used for what function

A

molecular filter in the kidney

394
Q

the basal lamina acts as a permeability barrier in the glomerulus, allowing the passage of ___ and blocking the loss of ____

A

small metabolites, blood proteins

395
Q

a condition that results from environmental insult that mimics a Mendelian disease

A

phenocopies

396
Q

mother is affected and so are all her children, of all genders

A

mitochondrial

397
Q

Haldane’s rule applies when

A

X linked recessive, reduced fitness, no other family history (goes by the mother’s side)

398
Q

X linked recessive affects

A

boys when mother is affected, girls when father is affected

399
Q

pedigree showing evidence of germ line mosaicism in parent

A

unaffected male with two affected children by two different partners

400
Q

SNP pros and cons versus microsatellites

A

SNPs are less informative but more stable than microsatellites

401
Q

DMD seen in child but no deletion found in mother’s blood. fetus could still have a ___% chance of having it because the mutation could be in her ______

A

7%, germline

402
Q

G1 cyclins are synthesized in G1 as regulatory subunits of ___

A

CDKs

403
Q

non dividing cells usually stop in which phase of the cell cycle

A

G1

404
Q

MAP kinase activity in G1 increases synthesis of ____ and blocks the action of __ and related inhibitor ___

A

cyclin subunits, p21 and p27

405
Q

what proteins are synthesized during S phase of the cell cycle

A

histones

406
Q

what duplicates in S phase but doesn’t separate until the start of mitosis

A

centrioles

407
Q

what event in G2 phase blocks further transcription for the cell

A

chromosome condensation

408
Q

what is the role of cohesins in the cell cycle, and when are they added

A

they are added during G2 and at the start of M

they help package chromosomes for mitosis by linking the replicated sister chromatids together until anaphase

409
Q

the onset of mitosis is controlled by what enzyme’s activity

A

kinase

410
Q

what motor protein crosslinks the microtubules during mitosis

A

kinesins

411
Q

what is located at the primary constriction point of each duplicated chromosome during metaphase

A

kinetochores

412
Q

unattached microtubules during metaphase are called ___ microtubules

A

astral

413
Q

the trigger for the metaphase to anaphase transition is the tension on all kinetochores, which inhibits the activity of a _____ (enzyme)

A

kinase

414
Q

when all kinetochores are under the same tension during metaphase, the _ _ _ becomes active and triggers separation of chromatids

A

Anaphase Promoting Complex APC

415
Q

during telophase, the division of the cytoplasm begins with the assembly of a ___ ___

A

contractile ring

416
Q

failure of cytokinesis after mitosis results in:

A

binucleated or multinucleated cell

417
Q

most animal cells blocked in mitosis for prolonged periods undergo ____

A

apoptosis

418
Q

checkpoints during the cell cycle

A

entry into mitosis (G2/M)
entry into S
exit from mitosis

419
Q

a serine/threonine specific protein kinase that has no activity unless combined with a matching regulatory subunit

A

cyclin dependent kinase

420
Q

inhibition of cdk’s

A

inhibitory phosphates

421
Q

activation of mitotic cdk

A

add phosphates to two different places of the kinase subunit by two different kinases

422
Q

inactivation of cdk

A
  1. cyclin subunit is ubiquitylated by an E3 ubiquitin ligase, targeting the cyclin subunit for proteolytic destruction by the proteosome
  2. the activating phosphate is removed from the kinase subunit
423
Q

what is the role of the Anaphase Promoting Complex (2 roles)

A

ubiquitin ligase that turns off cyclin dependent kinases

promotes chromosome separation by activating the protease Separase

424
Q

role of p53 in the cell cycle

A

stabilizes the protein against proteolytic degradation and activates it, inhibits cdks by increasing the concentration of proteins that bind to cdks and block their activity

425
Q

new deoxynucleosides are only incorporated into DNA during the __ phase of the cell cycle

A

S

426
Q

three major checkpoints in cell cycle

A

entry to M, G1/S border, metaphase to anaphase

427
Q

what prevents DNA from being replicated more than once every cell cycle

A

origins of replications

428
Q

what mitotic events occur before the nuclear envelope breaks down

A

chromosome replication, spindle elongation

429
Q

the event that triggers cells to pass the metaphase/anaphase checkpoint and proceed through to the final steps of mitosis is:

A

tension on all kinetochores from bipolar microtubule movement

430
Q

during the progression through the cell cycle, the molecule whose concentration/amount is most carefully controlled is:

A

nuclear genomic DNA

431
Q

genetic defect in apoptosis

A

syndactyly

432
Q

difference between cells undergoing apoptosis and necrosis

A

apoptosis: cells shrink then release small membrane bound apoptotic bodies that are phagocytosed by macrophages
necrosis: cells swell and burst, releasing their intracellular contents and frequently causing inflammation

433
Q

when there is insufficient trophic factors and no phosphorylation of Bad, the cell:

A

undergoes apoptosis by cytochrome C which activates the caspase cascade

434
Q

when there is sufficient trophic factor, Bad is phosphorylated and the cell:

A

can survive

435
Q

causes of senescence

A

normal adult cells that have reached the end of their telomeres (telomerase not active)

436
Q

protein important for blocking entry into S phase following DNA damage or when chromosomes have lost their telomeres

A

p53

437
Q

growth factor that acts locally

A

platelet derived growth factor, present in blood serum

438
Q

growth factor that acts systemically

A

erythropoietin

439
Q

mechanism used by stratified epithelia to regulate cell proliferation

A

anchorage dependent cell growth

440
Q

how cells know when to stop dividing during wound repair

A

density dependent growth inhibition (when cells touch each other they stop dividing)

441
Q

cancer cells usually lack (four things)

A

growth factor dependence
anchorage dependence
cell-cell contact inhibition
do not become senscent

442
Q

genes that encode normal cell proteins that function to stimulate cell growth and division

A

proto oncogene

443
Q

oncogenes are ___ active proto-oncogenes

A

constitutively

444
Q

how many alleles of a proto oncogene need to be mutated to affect cell growth

A

one

445
Q

how many alleles of a tumor suppressor gene must be mutated for the gene to be inactivated

A

two

446
Q

an inhibitor of gene transcripition. In its active state, ___ binds and sequester the transcription factor E2F. It is controlled by a cdk

A

Rb, retinoblastoma

447
Q

how is Rb inactivated

A

phosphorylation

448
Q

if p53 is damaged or missing, what will happen to a cell with damaged DNA

A

it will continue to divide

449
Q

how does HPV cause cancer

A

produces two proteins that bind to p53 and Rb so cell can undergo unregulated division

450
Q

how does SV40 virus cause cancer

A

produces large T antigen that binds both Rb and p53, sequestering those proteins and preventing them from regulating cell division

451
Q

the conversion of pro caspases to caspases leads to:

A

apoptosis

452
Q

___ levels of trophic factors in the developing brain prevent apoptosis

A

high

453
Q

the kinase that phosphorylates the Rb protein, allowing E2F dependent transcription, can be best described as

A

a proto oncogene

454
Q

the proportion of phenotypic variance caused by additive genetic variance

A

heritability

455
Q

antibiotic resistance due to mutation is (a response/a preexisting selection factor) to the antibiotic

A

preexisting selection factor

456
Q

the prophage pathway of transduction can give way to the lytic pathway via

A

an induction event caused by stress (virus knows it needs to get out of a stressed host)

457
Q

five ways transposons contribute to genetic diversity

A

disrupting genes in which they land
altering the expression of neighboring genes
facilitating rearrangement of the bacterial chromosome through homologous recombination between transposon copies
by hopping into plasmids or bacteriophages and transferring their genes via these vectors to other bacteria
amplifying copies of antibiotic resistance genes

458
Q

a mechanism by which bacterial transposons move that results in amplification

A

transposon is copied by DNA replication and inserted into a new site

459
Q

type of transposon movement that does not result in amplification

A

non replicative transposition

cuts from its old site to move to a new site

460
Q

number of possible gametes from each parent

A

2^n (n=23) due to independent assortment

461
Q

genes involved in eukaryotic homologous recombination

A

RAD

462
Q

how to retrotransposons move in humans

A

RNA intermediate

463
Q

how do retrotransposons contribute to human genetic diversity (three ways)

A

disrupt gene function by insertion
affect expression of genes
create sites for illegitimate homologous recombination known as unequal crossovers

464
Q

unequal crossovers created by retrotransposons create:

A

gene families (like the globin genes)

465
Q

anchors cell membrane of muscle and stabilizes the cytoskeleton-plasma membrane interactions

A

dystrophin

466
Q

deletion of the exons that code for the repeat of unequal crossovers leads to shorter forms of what protein in muscle

A

dystrophin, leads to muscular dystrophy

467
Q

retrovirus genome

A

ssRNA

468
Q

how were many of the known oncogenes discovered

A

they were tumor causing passengers on animal retroviruses

469
Q

how is homologous recombination initiated

A

double strand DNA breaks

470
Q

homologous recombination results in the (reciprocal/non reciprocal) exchange of genetic information between homologous chromosomes

A

reciprocal

471
Q

the higher the Lod score the more likely the distance associated with it is ___

A

true

472
Q

the smaller the theta associated with the maximum Lod, the (closer/further) the marker is to the disease gene

A

closer

473
Q

knowing whether two alleles, at different loci, were inherited from the same parent

A

knowing phase

474
Q

DMD is a large gene. What is the implication of that for intragenic markers?

A

Not as useful, still have to consider recombination

475
Q

alleles at different loci are said to be in _____ when on the same chromosome (cis)

A

coupling

476
Q

alleles at different loci are said to be in ____ when on opposite chromosomes (trans)

A

repulsion

MCP (4 decks)

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