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What is a mutation?
An heritable change
What are point mutations?
Specific mutations of one thing like T to A on RNA, also add or delete a single base pair
What is a frame shift?
When a new amino acid sequence is produced from a point mutation
How does sickle cell occur?
A missence of one amino acid base
What is a mutagen?
Chemical or physical agents that cause a change
What are the three types of repair?
Direct, nucleotide excision repair, and methyl-directed mismatch repair
What is direct repair?
a repair enzyme recognizes error in DNA and converts it back
What is nucleotide excision repair?
DNA strand containing abnormal nucleotide is removed and replaced
What is methyl-directed mismatch repair?
A base pair mismatch is detected and the surrounding DNA is removed and replaced
What are tumor suppressor genes?
Encoded proteins to help fight tumors
What are oncogenes?
A form of gene that controls cell growth and division with hormones
What is ras?
An intracellular signaling protein that hydrolyses GTP, promoting cell division
What are chromosomal translocations?
One segment of a chromosome is rearranged with another
what are retroviral insertions?
Viral DNA inserts into s chromosome putting a viral promoter next to a proto-oncogene, if overexpressed, will promote cancer
What are missense mutations?
Changes a single amino acid in a protein, can be cancerous
What are Gene amplifications?
Increase in copy number resulting in too much protein
What are the main functions of tumor-supressor genes
Maintain genome integrity and ability to inhibit cell division
What is p53?
A transcription factor that acts as a sensor of DNA damage, can promote repair and apoptosis
What is Rb?
proteins inhibit the transcription factor E2F which activates genes for G1 and S phase for cell cycle progression?
What are stem-loop structures?
structures in the ncRNA that bind to pockets on proteins
What is a binding site?
multiple stem loop structures together
What are some ncRNA abilities?
Scaffolding, guide, alter function, ribosome, blocker, and decoy?
What does a decoy ncRNA do?
mimics an RNA in order to block it from functioning
What is HOTAIR?
ncRNa that alters chromatin structure and represses gene transcription
How does HOTAIR function?
acts as a scaffold for proteins that covalently modify histone proteins
What are miRNAs?
ncRNAs transcribed from genes in the eukaryotic genome
What are siRNAs?
Come from exogenous source, usually viral
What is a repressor?
Inhibits transcription, negative control
What is an activator?
Increase rate of transcription, positive control
What do small effector molecules do?
bind to regulatory transcription factor and cause conformational change
What is an operon?
in bacteria is a set of two or more genes under transcriptional control of one promoter
Which gene codes for the lacrepressor?
lacl
What does Lac-z, galactosidase do?
breaks down lactose
What does lacY – lactose permease do?
transports lactose into the cell
What does LacA – galactosidase transacetylase do?
attaches acetyl group to lactose
What is Catabolite repression?
When presence of one preferred energy source inhibits another
What happens when lactose and glucose are high?
The lac operon shuts off
What happens when lactose is high and glucose is low?
The lac operon turns on
What does tryptophan do?
represses transcription