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Biology 102 - Molecular & Classical Genetics > Genomes and Their Evolution > Flashcards

Genomes and Their Evolution Flashcards

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1
Q

What is genomics?

A
  • The study of genomes
  • Involves analysis of whole sets of genes and their interactions
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2
Q

What is transcriptomics and proteomics?

A

The study of entire sets of RNA molecules and proteins

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3
Q

General properties of genomes

A
  • Genome size, number and gene density vary within and between eukaryotes and prokaryotes
  • Alternate splicing increases protein diversity without increasing genes
  • Non-coding DNA is not necessarily non-functional
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4
Q

What is high-throughout sequencing?

A

Generate enormous amounts of data very rapidly

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5
Q

Illumina Advantages

A
  • High accuracy
  • Low error rate
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6
Q

Illumina Disadvantages

A

Short read length makes genome assembly difficult

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7
Q

Pacific Biosciences and Nanopore Advantages

A

Long ready length improves genome assembly

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7
Q

Pacific Biosciences and Nanopore Disadvantages

A
  • Lower accuracy
  • Higher error rate
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8
Q

What is a microbiome?

A

The collective genomes of all microorganisms living in an environment

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9
Q

What its metagenomics?

A
  • Study of the microbiome using high-throughput sequencing
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10
Q

What is ancient DNA?

A
  • DNA isolated from ancient samples
  • Can be sequenced
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11
Q

What is bioinformatics?

A

The use of computer software to analyze sequencing data

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12
Q

What is gene annotation?

A

Prediction of genes in genome sequencing and the function of the gene products

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13
Q

What is systems biology?

A
  • It aims to understand whole cellular systems
  • Goal of being able to predict biology
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14
Q

What are genome-wide association studies?

A
  • A method to associate genetic variation across a population with specific phenotypes
  • Can be used to identify genomic regions associated with disease risk or other traits
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15
Q

What accounts for 1.5% of the human genome?

A
  • DNA sequences (exons) coding for protein, rRNA or tRNA
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16
Q

What accounts for 25% of the human genome?

A
  • Gene-related DNA, including introns and regulatory elements
17
Q

What accounts for the rest of DNA?

A
  • non-coding DNA
  • Repetitive elements
  • Unique sequences
18
Q

What are transposable elements?

A
  • A segment of DNA that can move around within the genome of a cell
  • 20-50% of mammalian genomes
19
Q

What is a transposon?

A
  • Moves via a DNA intermediate
  • Copy-and-paste mechanism of movement
20
Q

What is a retrotransposon?

A
  • Moves via a RNA intermediate
  • Copy-and-paste mechanism
  • In eukaryotes, retrotransposons are more common than transposons
21
Q

Alu Elements

A
  • About 300 nucleotides long
  • account for 10% of the genome
  • Help regulate gene expression
22
Q

LINE-1 retrotransposons

A
  • About 6500 base pairs long
  • About 17% of the genome
  • Contribute to neuron development
23
Q

Transposable elements and evolution

A
  • Can facilitate chromosomal translocations by providing sites for unequal homologous recombination leading to gene movement
  • Disrupt genes, or modify rates of transcription
  • Most changes are harmful, sometimes provide a benefit
24
Q

Why is there repetitive DNA?

A

Due to errors in DNA replication or recombination

25
Q

What are large-segment duplications?

A

Scattered copies of long sequences, copied from one region of the genome to another

26
Q

What is simple sequence DNA?

A
  • Tandemly repeated sequences
  • Each repeat is 2 to 500 nucleotides long
  • Found at telomeres and centromeres
27
Q

What is a short tandem repeat?

A
  • Simple sequence DNA with each repeat being 2 to 5 nucleotides long
28
Q

Genome rearrangement affect?

A

Usually harmful but may provide benefit

29
Q

What do translocations and fusions cause?

A
  • Alterations in chromosome structure
  • Contributes to the emergence of new species
30
Q

What does polyploidy mean?

A
  • When there are 3 copies of chromosomes
  • Normally lethal but not always
  • More common in plants, can lead to a new species
30
Q

What causes polyploidy?

A

Duplication of entire chromosome sets via nondisjunction

31
Q

How can polyploidy lead to a new species?

A

One set of genes provides essential functions while the other set(s) diverges through mutation

32
Q

What happens when there is unequal crossing over during meiosis?

A
  • Lead to duplication and deletion of chromosomal regions
33
Q

What happens if DNA polymerase slips during DNA replication?

A
  • Small duplications or deletions
  • Contributes to changes in repeat numbers in short tandem repeats
34
Q

What are multigenerational families?

A
  • Collections of two or more similar genes with a common origin
  • Usually clustered and often have RNAs as their final product
35
Q

Evolution of the global multigenerational families

A
  • Includes the alpha-globin and beta-globin gene families originating from a single ancestral gene
36
Q

How were the global multigene families formed?

A

By duplications followed by a mutation leading to functional diversification

37
Q

Evolution of genes with new functions

A
  • Lysozyme breaks bacterial cell walls
  • alpha-lactalbumin regulates milk production in mammals
  • Alpha-lactalbumin evolved from a duplicated lysozyme gene with mutations
38
Q

What is exon shuffling?

A

mixes exons within or between genes due to meiotic recombination errors

Biology 102 - Molecular & Classical Genetics (8 decks)

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