Unit 1 Flashcards

1
Q

Chromatin

A

DNA + Protein

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2
Q

Allele

A

Variant of a gene that differs at the DNA sequence level

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3
Q

Wild type

A

Most common allele of a gene in a population

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4
Q

Dominant allele

A

An allele that produces the associated phenotype when present in one copy.

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5
Q

Recessive Allele

A

An allele that required in two copies to produce the associated phenotype.

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6
Q

Genotype

A

Composition of a gene or set of genes

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7
Q

Phenotype

A

Physical manifestations of a specific genotype

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8
Q

Homozygous

A

Two of the same

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9
Q

Heterozygous

A

Mixed (carrier)

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10
Q

Phenotype - wildtype

A

Wild types are the most common PHENOTYPE

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11
Q

CFTR gene

A

Monogenic - on chromosome 7 - homozygous recessive (cystic fibrosis)

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12
Q

Haploid

A

One copy of every chromosome - 23 chromosomes (n)

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13
Q

Diploid

A

2 copies of every chromosome - 46 chromosomes (2n)

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14
Q

Dna v rna

A

Dna: Double stranded (more stable, less reactive) - OH at corner instead of at two corners - uses thymine not uracil.

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15
Q

Template strand

A

Will be used for transcription

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16
Q

Nontemplate strand (coding strand)

A

not used - will be ALMOST SAME to the coded RNA strand (except for T-U)

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17
Q

RNA

A

Will look JUST like the non template (T-U)

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18
Q

Transcription

A

Process by which RNA is produced using the base sequence in the DNA template strand

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19
Q

Promoter

A

DNA sequence (TATA) near beginning of gene that signals where transcription begins

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20
Q

Transcription factors

A

They recognize the promoter and bind to the DNA + recruit transcriptional machinery

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21
Q

RNA polymerase

A

Synthesizes rna from a dna template

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22
Q

3 phases of transcription

A

Transcription initiation:
Txn factors recognize The promoter DNA sequence near start of gene + RNA polymerase
Transcription elongation:
Polymerase melts double strand BONDS of DNA + read the template strand to make 5-3 complementary and parallel ssrna molecule. Template strand is 3-5 so rna will be 5-3.
Termination:
Rna polymerase falls off + rna strand falls off

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23
Q

Amplification of genetic information

A

Multiple copies of the same RNA are made by multiple simultaneous transcription

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24
Q

RNA processing

A

During txn rna is modified AS it is transcribed.

  1. Modification (cap and tail)
  2. Splicing (intron removal)
  3. Export
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25
Q

mRNA

A

Two forms: premature which is processed to form mature mRNA.

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26
Q

mRNA cap and tail

A

5’ cap: modified base added to the 5’ end of mRNA - protects strand - signal for transportation from Nucleus-cytoplasm
3’ poly A tail: prevents enzymatic degradation of the rna in the cytoplasm. Aids in export.

27
Q

Splicing

A

Introns and Exons are read and transcribed into pre-mRNA. Introns are cut and removed. Exons are spliced together.

28
Q

Introns

A

Non coding segments of DNA - removed from mRNA

29
Q

Exons

A

Coding regions of dna sequence

30
Q

Gene expression (central dogma)

A

Why is the process of transcription the sequence of bases in a gene instructs production of RNA with a specific sequence of nucleotides

31
Q

Alternative splicing

A

Different permutations for a sequence of exons. Different combinations of exons mean alternative RNA strands. When translated, you get different protein isoforms.

32
Q

Protein

A

Macromolecule composed of amino acids - 4 different kinds of amino acids

33
Q

What determines the structure and function of a protein

A

Sequence of amino acids

34
Q

Amino acid chain

A

Held together by peptide bonds

35
Q

Protein structure

A

Determines function

36
Q

Anti Codon

A

Complementary and antiparallel to the codon

37
Q

tRNA

A

Transfer RNA

Type of RNA produced in txn of a gene molecule that that connects mRNA to amino acids

38
Q

Codon

A

3 base pairs that make an amino acid

39
Q

Ribosome

A

Large complex of proteins and RNA molecules

rRNA (ribosomal) + tRNA

40
Q

3 phases of translation

A

Initiation:
Ribosome attach to the RNA in the cytoplasm. Searches for the start codon AUG (methonine).
Elongation:
Ribosome travels from 5’ to 3’ of the RNA. Builds proteins as tRNA match with the mRNA codons attaching aa to each other.
Termination:
Ribosome encounter the stop codon. Ribosome is thus released, so is the polypeptide chain. THEN the protein may properly fold.

41
Q

Translation elongation

A

Second tRNA arrives and base pairs w the mRNA codon

Ribosome moves along 5-3 and peptide bonds form to create a polypeptide chain

42
Q

Translation termination

A

ribosome reaches a stop codon to which a release factor protein binds to (instead of a tRNA). Once bound, synthesis is stopped and everything detaches.
Ribosomes are reused.

43
Q

Multiple ribosomes

A

Multiple ribosomes can move down a single mRNA to amplify expression!

44
Q

Genetic code is degenerate

A

Many different codons can make a single amino acid.

But there are some amino acids that ONLY HAVE ONE CODE (methionine).

45
Q

Aug

A

Is the first codon and sets the pattern for how the codons are meant to be read for the ribosome.

46
Q

Missense mutation

A

A change in one aa to another

47
Q

Nonsense mutation

A

A point mutation that results in a premature stop codon.

Cuts the chain short.

48
Q

Frameshift

A

Deletion or insertion of a nucleotide. changes the WHOLE THING. Self evident by name.

49
Q

Point mutation

A

Change JUST 1 nucleotide

50
Q

Diamond blackfan anemia

A

Bone marrow does not produce enough blood cells
Disease caused by error in translation.
Failure or inability to produce ribosome proteins
RBC are prone to apoptosis
Dominant allele

51
Q

RNA Polymerase

A

Moves along template strand 3-5

Assembles RNA 5-3

52
Q

Gene expression

A

Transcription + translation of a gene to produce protein

53
Q

Different patterns of gene expression on different cell types

A

Results in difference in amount and type of mRNA made in a given cell (cell differentiation, cell identity, cell function)

54
Q

Transcriptional control

A

Control at initiation
Control at chromatin (epigenetics)
Assembly of txn initiation complex at promoter
Post translational control

55
Q

Transcriptional control relies on

A
  1. the state of the chromatin
56
Q

Nucleosome

A

Dna is wrapped around 4 pairs histones (like cubes). This set is a nucleosome. When open the DNA may be expressed, if closed it will not be expressed

57
Q

Transcription factors

A

Proteins that control txn by binding to specific dna sequences
(Specific proteins that bind to specific sequences of the dna)

58
Q

2 txn factors

A

General transcription factors (gtf)

Specific/specialized transcription factors

59
Q

General txn factors

A

Class of TF that bind at the promoter to recruit RNA polymerase

60
Q

Specific txn factors

A

Class of TF that bind to dna at:

  1. Activators: enhances the expression
  2. Repressors: silence the expression
61
Q

Stem cell

A

Cell with the ability to replicate into 2 daughter cells. One cell will remain a stem cell, the other has the ability to differentiate.
(Most potent (totipotent) stem cell is the Embryo)

62
Q

Potent cells

A

Totipotent embryo
Pluripotent embryonic stem cell:
Mesoderm, ectoderm, endoderm
Multipotent stem cells

63
Q

Master TFs

A

Oct4
SOX2
NANOG
Promote genes that preserve the stem cell state.