Lecture #2 Flashcards

1
Q

DNA (deoxyribonucleic acid)

A

thin (2nm diameter)
linear polymer fiber
double-stranded helix
4 nucleobases: adenine (A), thymine (T), guanine (G), cytosine (C) - foundation for everything
anti-parallel: A=T (2 hydrogen bonds), G=C (3 hydrogen bonds)

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2
Q

Genome

A

23 pairs of chromosomes
a genome is an organism’s complete set of DNA, including all of its genes. each genome contains all of the info needed to build and maintain that organism
in humans, a copy of the entire genome - more than 3 bllion DNA base pairs - is contained in all cells that have a nucleus (the exact # sometimes changes due to new research finding)
kilobase = 1,000 bp
megabase = 1 million bp
21,000 genes in human

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3
Q

Genes: an evolving concept

A

a gene is a sequence of DNA or RNA which codes for a molecule that has a function
a gene is the basic physical and functional unit of heredity
genes, which are made up of DNA, act as instructions to make molecules
in humans, genes vary in size from a few hundred DNA bases to more than 2 million bases

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4
Q

Gene classification

A

protein coding genes: genes that are expressed to be proteins - only 1-3% of the human genome are protein-coding sequences; ~20,000 genes found in the human genome
noncoding genes: final product is an RNA, not a protein; tRNA, rRNA, miRNA, others: long noncoding RNA (LncRNA), antisense RNA, pseudogenes

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5
Q

transfer RNA

A

transfer amino acids to the RNA template to make proteins

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6
Q

ribosomal RNA

A

the RNA component of ribosomes

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7
Q

microRNA

A

play very important role in regulating protein-coding gene expression

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8
Q

Structure of a gene

A

proteing coding gene:
promoter region - determines which tissue will be expressed; 5’untranslated region (doesn’t exist in protein), exon, intron, 3’untranslated region
on average: 8.8 exons/gene, 7.8 introns/gene

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9
Q

Chromatin

A

unwounded DNA with protein
observed through interphase
DNA is accessible for transcription

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10
Q

Chromosome

A

tightly packed DNA
observed only during cell division (metaphase)
DNA is not used

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11
Q

Why pairs of chromosomes?

A

increase genetic diversity for the population
one chromosome from dad and one from mom

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12
Q

Expression of genetic information

A

central dogma: current thinking is we know it’s not a one way process
DNA replication, transcription and reverse transcription, RNA replication, translation to protein, protein to prion

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13
Q

Transcription

A

mRNA maturation process
mature mRNA has NO introns
DNA –> mRNA precursor (has not promoter region) –> matured mRNA with no introns and a poly-A tail
DNA: adenine, thymine, guanine, cytosine; RNA: adenine, uracil, guanine, cytosine

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14
Q

Translation

A

matured mRNA with a poly-A tail –> protein
RNA to protein; starts with AUG (making amino acid methionine); stops at one of the three stop codons (UAG, UAA, UGA); open reading frame - coding DNA sequence, AUG to the codon before stop codon, protien starts with methionine

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15
Q

Elements of a real gene: identify exons, introns, and others

A

start at color change, first ATG is the start codon
exons: part of DNA that’s expressed; introns: not expressed
coding part of the exon region, noncoding is part of intron region
all gene stops with a stop codon (UAA, UGA, UAG)

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16
Q

Genetic coding system

A

64 codons: 3 stop codons - UAA, UAG, UGA; 1 initiation codon - ATG
20 amino acids

17
Q

Sequence variations

A

present in any given human genome
present between individuals
present in a population
sequence variation (polymorphism) largely influences diversity and adaptability of humans to a changing environment
whether a variation has a functional consequence depends on its location and nature

18
Q

Nature of a polymorphism

A

a polymorphism is a sequence variation at the same position of homologous chromosomes (diploid genome)
there are NO polymorphisms in the genome of a single germ cell (haploid genome)