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189 Cards in this Set
- Front
- Back
Targeting sequence tag that directs proteins to nucleus (polymerase, peroxides)
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ProLysLysLysArgVal
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Targeing Sequence tag that directs proteins to the ER membrane (cell membrane eventually)
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Signal peptide sequence
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Targeing Sequence tag that directs proteins to the ER lumen surface (point to cytosol eventually)
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KDEL sequence (LysAspGluLeu)
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Targeting Sequence tag that directs proteins to peroxisomes
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SerLysPhe
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keep proteins in unfolded form
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chaperones (heat shock proteins)
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recognized by proteosomes
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ubiquitin-protein conjugate
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Shortest phase of the cell cycle
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M phase
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Longest phase of cell cycle
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G1 (or Interphase cumulatively)
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activates the start kinase in the G1 phase (cyclin)
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cyclin E
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Components of start kinase
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cyclin E & cdk2 (cyclin-dependent-kinase)
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period of intense transcriptional activity with subsequent protein synthesis
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G1 phase
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cyclin that initiates DNA synthesis
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G1 cyclin
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most important regulation point in the cell cycle
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just prior to S phase
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phosphorylates proteins that initiate S phase
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G1 cyclin-dependent protein kinase
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phase that prepares tetraploid cell for cell division during M phase
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G2 phase
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requires the M phase kinase to be inactivated
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return to interphase
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components of MPPF
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cyclin B & cdc 2
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phosphorylation of these proteins by M phase kinase presumably initiates the condensation of DNA into chromosomes
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H1 histones and lamins
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cyclin that aids in chromosome formation
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cyclin B
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second messengers derived by phospholipase C action
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DAG (activates PKC), IP3 (opens Ca++ channels)
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cell phase when transcription & translation (RNA & Protein synthesis) occurs
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G1 phase
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Structure of stop sequence of transmembrane proteins
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hydrophobic alpha helix
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utilizes ATP to phosphorylate discreet target proteins at crucial tyrosine residues
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tyrosine kinase
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induces internal tyrosine kinase to autophosphorylate itself
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EGF
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target protein of tyrosine kinase
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SH2 domain
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when phosphorylated, migrates to the nucleus where it modulates transcription of certain genes
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target protein
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produces secondary messengers by activating PLC & Adenylate Cyclase
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G(alpha)-GTP
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enzyme that hydrolyzes PIP2 to DAG & IP3
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PLC
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ADP-ribosylates Gs protein at a crucial arginine residue
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cholera toxin
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ADP-ribosylates Gi protein at a crucial cysteine residue
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pertussis toxin
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contains a hormone-binding site and a DNA-binding site
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Steroid, Retinoate, & Thyroid hormone receptors
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moves to the nucleus where it acts as a transcription factor affecting gene expression
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intracellular growth factor-receptor complex (steroids)
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constituents of tyrosine kinase receptor
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N-terminal ligand binding region, stop sequence (hydrophobic alpha helix), & cytosolic C-terminal catalytic site (autophosphorylation)
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general goal of tyrosine kinase cascade
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transcription control (gene expression)
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consequences of ADP-ribosylated G(alpha)-GTP
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inhibited GTPase leading to increased cAMP
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binds Ras to plasma membrane
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Farnacil
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activated by PDGF receptor via Grb2-Sos complex interaction
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Ras
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recruited by stimulation of Raf and MEK kinase
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MAPK
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Factors of aging (3)
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Free radicals (mutation), glucose (protein modification), growth factors (GH)
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phase of the cell cycle that lasts 6-12 hours w/ 2n DNA
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G1 phase
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phase of the cell cycle that lasts 6-8 hours w/ 2n-4n DNA
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S phase
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phase of the cell cycle that lasts 3-4 hours w/ 4n DNA
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G2
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phase of the cell cycle that lasts 1 hour w/ 4n-2n DNA
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M phase
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phase of the cell cycle that lasts 16-24 hours (non M phase)
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Interphase
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growth factor that induces cell division; can become a mutation
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proto-oncogene
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mutated gene that turns on G(alpha)-GTP
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oncogene
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genetic factor that inhibits growth/division
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growth suppressor
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permanently stimulated by v-erb B oncogene
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tyrosine kinase
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oncogene associated with 25% of all cancers and 90% of pancreatic cancer
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ras
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activity lost if ras is permanently stimulated
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GTPase
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viruses that can induce cancer in animals and humans
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retrovirus
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methods viruses cause cancer (2)
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insertion of viral oncogene or promoter (close to oncogene) into host DNA
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1st oncogene discovered
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src
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develops from formation of Philadelphia chromosomes (chr. 9-22 translocation)
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myelogenous leukemia
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oncogene turned on by formation of Philadelphia chromosomes
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abl
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protein products of growth suppressors
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check point regulators
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tetramer that induces p21 synthesis, inhibiting cyclin/cdk
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p53
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p53 concentration __________ w/ increasing DNA damage
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increases
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restricts cells from entering S-phase until damaged DNA is repaired
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p53
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action of set of genes induced by p53 when cell repair is not possible
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apoptosis
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proto-oncogene that inhibits apoptosis
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blc-2
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protein kinase that phosphorylates pRB
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cyclin d-cdk4
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result of phosphorylation of pRB
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dissociation from E2F allowing transcription
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induces p21 to bind to cyclinD-cdk4
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p53
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negative modulator of bcl-2
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p53
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cell survival oncogene that when translocated causes follicular B cell lymphoma
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bcl2
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oncogene that causes leukemia, brain tumors, osteosarcoma, retinoblastoma, and rhabdomyosarcoma
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src
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viral oncogene that encodes a truncated form of the EGF receptor (permanently stimulated tyrosine kinase)
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v-erbB
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region of v-erbB that normally inhibits tyrosine kinase domain
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COO- terminal
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DNA virus that causes hepatocellular carcinoma
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Hepatitis B
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DNA virus that causes cervical carcinoma & squamous cell skin carcinoma
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Papillomavirus
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DNA virus that causes Burkitt lymphoma and other B cell lymphomas, nasopharyngeal carcinoma
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Epstein-Barr virus
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RNA Retrovirus that causes adult T cell leukemia
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Human T cell lymphotropic virus (HTLV-1)
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RNA Retrovirus that causes Karposi sarcoma, lymphomas
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HIV
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oncogene affected by Rous sarcoma virus
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src (tyrosine kinase)
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oncogene affected by avian erythroblastosis virus
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erbB (tyrosine kinase, growth factor receptors)
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oncogene affected by Abelson murine leukemia virus
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abl (tyrosine kinase)
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oncogene affected by Simian sarcoma virus
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sis (growth factors)
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oncogene affected by Harvey murine sarcoma virus
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Ha-ras (Guanyl-nucleotide-binding proteins)
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oncogene affected by Kirsten murine sarcoma virus
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Ki-ras
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oncogene affected by FBJ osteosarcoma virus
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fos (nuclear proteins)
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oncogene affected by Avian myeloblastosis virus
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myb (nuclear proteins)
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8-14 translated oncogene affected by Avian myelocytomatosis virus (Burkitt lymphoma)
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myc (nuclear proteins)
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oncogene that produces tyrosine kinase that prevents contact inhibition of cells
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src
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formed by reverse transcriptase (complement to RNA template)
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cDNA
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properties of trasformed cells by isolated oncogenes
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no contact inhibition, rounded shape, piling
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toxin produced from a fungus that grows on peanut butter
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aflatoxin
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carcinogen found in whisky and new car interiors
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diethylnitrosamine
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carcinogen used to make plastics
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vinyl chloride
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retinoblastoma factor that controls growth by reacting w/ E2F
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RB
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binds to bcl2 in the mitochondria prohibiting apoptosis
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bad
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inhibiting cdk4 would do what to the S phase of cell replication
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inhibit
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genetic basis for cystic fibrosis
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three base pair deletion
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term used to describe disease caused by a reduction (50%) or increase (150%) of the gene product
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dosage sensitivity
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Which came first; RNA or DNA?
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RNA--enzyme capacity & self-splicing
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DNA sequences capable of propagating copies of themselves that are inserted in other locations of chromosomes, causing frameshift mutations
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transposons (mobile elements)
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Cause of Type I neurofibromatosis, familial breast cancer, familial polyposis, and hemophilia A and B
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transposon insertion
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Introns are precisely removed from the primary mRNA transcript to produce a mature mRNA transcript. This process is called:
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Splicing
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Type of mutation that produces a dominant disorder
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Gain of function
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Type of mutation that produces a recessive disorder
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Loss of function
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encoded by one gene of chromosome 11
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Beta chains of hemoglobin
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encoded by two genes of chromosome 16
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Alpha chains of hemoglobin
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How many genes that code for hemoglobin would a normal person have?
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two normal beta genes and four normal alpha genes (6)
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condition in which hemoglobin is structurally normal but reduced in quantity
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thalassemias
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used to diagnose thalassemia and other hemoglobinopathies
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Southern blot (change in the number of location of a restriction site; RFLP)
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mutation in which a hemoglobin chain is reduced in number, causing the other chain to develop homotetramers
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thalassemia
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type of thalassemia that has excess beta chains (gamma in the fetus)
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alpha thalassemia
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clinical consequences of different degrees of alpha thalassemia
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1 or 2 alpha-globin genes--silent
3 genes--anemia & splenomegaly 4--hypoxemia, hydrops fetalis |
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genetic basis for beta thalassemia minor
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mutation in one copy of chromosome 11 (little consequence)
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genetic basis of beta thalassemia major (Cooley's anemia)and intermedia
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usually produced by a nonsense mutation that gives reduced (beta +) or absent (beta o) beta globins
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why are the effects of beta thalassemia major not seen clinically until the age of 2-6 months?
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beta globin is not produced until after birth
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cause of death in more than 90% of cystic fibrosis patients
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chronic lung obstruction by heavy, thick mucus and infection by staph. aureus and pseudomonas aeruginosa.
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genetic basis for cystic fibrosis
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CF gene on chromosome 7q encodes CFTR (cystic fibrosis transmembrane regulator) that forms cAMP regulated Cl and Na channels, depleting the airway of water and obstructing lungs and the pancreas
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correlation of genotype and pancreatic and pulmonary function
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pancreatic--good
pulmonary--variable |
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inc. PTH, phosphaturia, inc. urine Ca, inc. urine cAMP, inc. serum Ca, dec. serum PO
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primary hyperparathyroidism
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dec. PTH, dec. PO & cAMP in urine, dec. serum Ca, inc. serum PO
diagnosis? |
surgical hypoparathyroidism
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inc. PTH, dec. urine PO & cAMP (defective Gs), dec. serum Ca, inc. serum PO
diagnosis? |
pseudohypoparathyroidism
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dec. PTH, phosphaturia, inc. urine Ca & cAMP, inc. serum Ca, dec. serum PO
diagnosis? |
humoral hypercalcemia of malignancy
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inc. PTH, dec. phosphate in urine (dec. GFR), dec. serum Ca, inc. serum PO, osteomalacia
diagnosis? |
chronic renal failure
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location of cystic fibrosis gene
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chromosome 7q
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strux & function of cftr
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cAMP-regulated Cl ion channel on epithelial cells (bowel & lungs), involed in Na & Cl transport, causing salt imbalances
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accounts for nearly 70% of all cystic fibrosis mutations
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DF508 (Deletion of Phe @ position 508)
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relationship between genotype, pancreatic function, & pulmonary function in CF
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pancreatic--good correlation,
pulmonary--variable |
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molecular defect in sickle cell anemia
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val substituted for glu @ position 6 of the beta chain
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thalassemia type in which alpha globin chains are deficient (excess beta or gamma chains)
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alpha thalassemia
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aka--Cooley's anemia
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beta thalassemia major
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genetic basis for beta thalassemia minor
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mutation in one copy of chromosome 11 (heterozygote)
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proteins coded for by lac operon
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beta galactosidase
lactose permease transacetylase |
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inducer of the lac operon protein-coding genes
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allolactose
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positive regulator molecule that facilitates polymerase binidng to the lac operon promoter, allowing transcription
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CAP-cAMP complex
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product of trpR
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aporepressor protein
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activates aporepressor protein in trp operon
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trp
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renders promoter for trp synthesis inaccessible to RNA polymerase when bound to operator
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aporepressor-trp complex
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pairing of leader peptide coding regions on the trp operon that results in a pause
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1:2
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pairing of leader peptide coding regions on the trp operon that results in a antitermination
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2:3
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pairing of leader peptide coding regions on the trp operon that results in termination
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3:4
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main difference of eukaryotes & prokaryotes
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prokaryotes have no nuclear MEMBRANE
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primary control step in prokaryotic gene expression
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transcription
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What would happen if DNA and histones of transcriptionally inactive cells are mixed with nonhistones of transcriptionally active cells?
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transcription
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first sites to be cut by DNase I
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hypersensitive sites
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correlation of methylated DNA and transcription
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more methylated DNA = less transcription
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genes that encode galactose metabolism in yeast
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GAL1, GAL7, GAL10
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binds to upstream activator sequence-galactose (UASg)
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GAL4
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removed from GAL4 by galactose, activating transcription of GAL genes
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GAL80
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common to all genes activated by a specific hormone (sequence where steroid-receptor complex binds)
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Steroid response element (Res)
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location of Res
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enhancer region
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most significant range of RNA control of processing
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mRNA precursors
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types of RNA processing control
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choice of polyA sites, choice of alternative splice sites
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result of Sx1 gene presence in RNA processing
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complete tra pre-mRNA(female)
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regulation of # of transcripts that exit the nucleus to cytoplasm
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transport control
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controls rate of protein synthesis rate increase after fertilization
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mRNA translation (no new RNA synthesis)
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difference between apoB in the liver (B100) and intestine (B48)
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codon 2153--liver=CAA, intestine=UAA (stop codon)
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shortest phase of cell synthesis
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mitosis
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longest phase of cell division
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G1 (6-12 hours, 2n DNA)
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function of cyclin E
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turns on start kinase (cyclin E and cdk2 dimer)
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function of cyclin B
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activates cdc2 that forms chromosomes (MPPF dimer of cyclin B & cdc2) in M phase
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function of cyclin G
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activates G cyclin-dependent protein knase to initiate S-phase (most important regulation point)
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phase that prepares tetraploid cell for division during M-phase
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G2 phase
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what phase are DNA and histones synthesized
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S
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action of PLC
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cleaves PIP2 to IP3 and DAG
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activates adenylate cyclase and PLC
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G protein alpha subunit
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product of PLC that promotes Ca influx
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IP3
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product of PLC that activates PKC
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DAG
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cell cycle lengths
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G1--6-12 H, 2n
S---6-8 H, 2n-4n G2--3-4 H, 4n M---1 H, 4n-2n I---16-24 H |
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result of conversion of a proto-oncogene into an oncogene
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cancer (no apoptosis)
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most widespread oncogene
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Ras
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most common cancer causing mutation of a tumor suppressor gene
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p53 defect
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iduces synthesis of p21 that binds and inhibits cyclin cdk
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p53
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function of blc-2
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inhibits apoptosis (proto-oncogene)
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binds transcription factor E2F
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dephosphorylated pRB
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nonreceptor protein-tyrosine kinase oncogene, causes chronic myelogenous leukemia when activated by translocation
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abl
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cell survival oncogene, causes follicular B cell lymphoma when activated by translocation
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bcl2
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nonreceptor protein-tyrosine kinase oncogene, causes brain tumors, leukemia, retinoblastoma, osteosarcoma, and thabdomyosarcoma
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src
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tyrosine kinase class oncogene used by Rous sarcoma virus
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src
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tyrosine kinase class oncogene used by abelson murine leukemia virus
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abl
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tyrosine kinase class oncogene used by avian erythoroblastosis virus
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erbB
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Growth factor class oncogene used by simian sarcoma virus
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sis
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Growth factor class oncogene used by harvey murine sarcoma virus
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Ha-ras
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Growth factor class oncogene used by kirsten murine sarcoma virus
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Ki-ras
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Nuclear protein class oncogene used by FBJ osteosarcoma virus
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fos
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nuclear protein class oncogene used by avian myeloblastosis virus
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myb
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nuclear protein class oncogene used by avian myelocytomatosis virus
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myc
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viral gene that produces reverse transcriptase and integrase
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pol
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oncogene transformed fibroblast cell properties
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no contact inhibition; round shape and disorganized layers
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cleavage that results in DNA fragments with a phosphate on 5' ends and hydroxyl on 3' ends
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restriction enzymes
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DNA library that contains only DNA corresponding to exons
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cDNA
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consists of fragments of DNA that are the result of a restriction digest of whole genomic DNA
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genomic library
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DNA library that utilizes flow cytometry
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chromosome-specific library
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separates chromosomes according to the proportion of AT base pairs in each one
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flow cytometry
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