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From Flashcardlet > Human Genetics chapter 9 > Flashcards

Human Genetics chapter 9 Flashcards

0
Q

Chromatin remodeling

A

The set of chemical changes to the DNA and histones that activate and inactivate gene expression.

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1
Q

How do proteins affect the phenotype?

What is the relationship between protein and DNA?

A
  1. Proteins are products of genes and genes are products of DNA
  2. DNA is translated into proteins and they are the intermediary between genes and phenotype
  3. Phenotypes of cells, tissues and organisms all result from protein function which came from
  4. When proteins are not functional or not produced, the usual result is a mutant phenotype
  5. Ask if protein malfunctions are always the result of DNA mutations?
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2
Q

How does the sequence of nucleotides and proteins interplay?

A
  1. The number and Sequence of nucleotides in our DNA encodes the protein we produce and how much of each is expressed in a given cell
  2. The amount of information in a given cell is related to the number of nucleotides within that cell
  3. Humans have 3 billion base pairs of sequence
  4. The number and sequence of bases in a gene determines the information that it carries
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3
Q

How do genes control the production of proteins?

A
  1. The language of genes is made up of 4 nucleotides
  2. The language of proteins is made up of 20 amino acids
  3. 5 amino acids can make 20^5 different molecules
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4
Q

Charles Yanofsky

A
  1. In 1967 he showed that the order of nucleotides and the order of amino acids are colinear
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5
Q

Genetic code

A

The direct relationship of nucleotides to amino acids

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6
Q

Alkaptonuria

A

An autosomal recessive trait where individuals lack the enzyme to break down homogentistic acid; urine turns black in air

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7
Q

Codon

A

Triplets of nucleotides in mRNA that encode the information for a specific amino acid in a protein.

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8
Q

How is the linear sequence of nucleotides in a gene converted into the linear sequence of amino acids in a protein?

A
  1. DNA is in the nucleus
  2. Protein is synthesized in the cytoplasm
  3. Information transfer must be indirect… Via RNA
    4 step 1. DNA to RNA (transcription)
  4. step 2. RNA to protein (translation)
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9
Q

Transcription

A
  1. The process in which RNA polymerase synthesizes one strand of RNA from a DNA template
  2. Takes place in the nucleus
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10
Q

Pre-messenger RNA (pre-mRNA)

A
  1. The transcript made from the DNA template that is processed and modified to form messenger RNA.
  2. In the nucleus
  3. Remains pre-mRNA until introns and exons are removed and spliced
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11
Q

Messenger RNA (mRNA)

A
  1. A single stranded complementary copy of the amino-acid coding nucleotide sequence of a gene.
  2. Occurs in the nucleus
  3. Cap is added to 5’ side and poly-A tail is added to 3’ end
  4. Mature mRNA is transported to the cytoplasm
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12
Q

Ribonucleotides

A
  1. Assemble along the unwound DNA strand in a complementary sequence
  2. Beginning of transcription, before DNA a unwinds
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13
Q

4 steps of transcription

A
  1. RNA polymerase binds DNA at the genes 5’ promoter region and DNA helix unwinds
  2. initiation: RNA synthesis begins
  3. Elongation: RNA polymerase reads the template strand and inserts complementary RNA nucleotides to form pre-mRNA (T’s disappear and become U’s; paired with A’s)
  4. Termination: when RNA polymerase reaches the 3’ terminator region, pre-mRNA falls off DNA
  5. One last step in eukaryotic cells, RNA processing (pre-mRNA to mRNA)
  6. All this happens in the nucleus
  7. Mature mRNA is then moved into the cytoplasm
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14
Q

Heterogeneous nuclear RNA

A
  1. Newly synthesized pre-mRNA that must be modified into mRNA before it’s fully functional
  2. Splicing of introns
  3. Cap and poly-A tail added to mRNA
  4. Promoter region_exon_intron_exon_intron_terminator region
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15
Q

Introns

A

DNA sequences present in some genes that are transcribed but are removed during processing and therefore are not present in mature mRNA. (Non coding sequences)

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16
Q

Exons

A

DNA sequences that are transcribed joined to other exons during mRNA processing, and translated into the amino acid sequence of a protein. (Coding sequences)

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17
Q

Cap

A
  1. Added for initiation of translation and stability

2. Added to the 5’ side

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18
Q

Poly-A Tail

A

A series of A nucleotides added to the 3’ end of mRNA molecules

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19
Q

Splicing

A
  1. Process of Introns being removed from mRNA

2. Yields different proteins from the same gene

20
Q

Translation

A
  1. The information within the mRNA is translated from nucleotide to amino acid in the cytoplasm
21
Q

RNA interference (RNAi)

A

A mechanism of gene regulation that controls the amounts of mRNA available for translation.

22
Q

What are the steps in translation?

A
  1. Initiation: when mRNA binds to ribosomal unit and the anticodon of initiator tRNA pairs with start codon carrying first amino acid (ribosome + mRNA + tRNA)
  2. Elongation: amino acids are added to growing peptide chain, and peptide bonds are made between them
  3. Translocation
  4. Termination: elongation ceases once a stop codon is reached, the complex falls off
  5. mRNA and tRNA used again to make a new polypeptide
23
Q

Initiation complex

A

Formed by the combination of mRNA, tRNA, and the small ribosome subunit . The first step in translation.

24
Q

Start codon

A

A codon present in mRNA that signals the location for translation to begin. The codon AUG functions as a start codon and codes for the amino acid methionine.

25
Q

Stop codon

A

A codon in mRNA that signals the end of translation

26
Q

Ribosomes

A
  1. Cytoplasmic particles that aid in the production of proteins.
  2. Ribosomes can translate one mRNA many times over and even simultaneously by many ribosomes.
27
Q

Anticodon

A

A group of three nucleotides in a tRNA molecule that pairs with a complementary sequence (known as a codon) in an mRNA molecule

28
Q

Transfer RNA (tRNA)

A
  1. A small RNA molecule that delivers amino acids to the mRNA ribosome complex during translation.
  2. Has two sites: 1. Anticodon site that binds with complementary codon mRNA sequence and 2. site for attachment of amino acid
29
Q

Ribosomal RNA (rRNA)

A
  1. RNA inside each ribosome that acts as an enzyme during translation
  2. Links amino acids together to form polypeptide
30
Q

Polysomes

A

A messenger RNA (mRNA) molecule with several ribosomes attached.

31
Q

Amino acid

A
  1. One of the 20 subunits of proteins. Each contains an amino group, a carboxyl group, and an R group.
  2. Amino acids are linked together by the formation of peptide bonds
32
Q

Amino group

A
  1. One of three groups in an amino acid

2. NH2

33
Q

Carboxyl group

A
  1. One of three groups in an amino acid

2. COOH

34
Q

R group

A
  1. One of three groups in an amino acid

2. Unique side chain R

35
Q

Polypeptide

A
  1. A molecule made of amino acids joined together by peptide bonds.
  2. 10 plus amino acids
  3. Read from N-terminus to C-terminus
36
Q

Peptide bond

A

A covalent chemical link between the carboxyl group of one amino acid and the amino group of another amino acid.

37
Q

N-terminus

A

The end of a polypeptide or protein that has a free amino group.

38
Q

C-terminus

A

The end of a polypeptide or protein that has a free carboxyl group.

39
Q

Chaperones

A
  1. After a polypeptide is formed, it folds into a 3D shape determined by its amino acid sequence
  2. Chaperones are proteins that guide polypeptide folding
40
Q

Post translational modification

A

Polypeptides can be chemically modified after they are created, this is that process

41
Q

Functional protein

A
  1. A polypeptide that has been folded, modified and sometimes complexed with other polypeptides
42
Q

Proteome

A

The set of proteins present in a particular cell at a specific time under a particular set of conditions.

43
Q

Primary structure

A

The linear amino acid sequence in a polypeptide chain.

44
Q

Secondary structure

A

3D configurations that result from interactions between the amino acids NH and CO groups (pleated sheets, helix and coils)

45
Q

Tertiary structure

A

The folding of secondary structure back on itself

46
Q

Quaternary structure

A

Interactions between two or more polypeptide chains

47
Q

Prion

A

A protein folded into an infectious conformation that is the cause of several disorders, including Creutzfeldt-Jakob disease and mad cow disease.

48
Q

Mad cow disease

A

A prion disease of cattle, also known as bovine spongiform encephalopathy, or BSE.

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