Module 03 - Section 06 Flashcards

Genome Formatting and Structure

1
Q

What is the genome?

A

Complete set of genetic material encoded in a cell or virus.
For many sexually reproducing organisms, the genome includes one set of autosomes and two sex chromosomes
Contain both coding and non-coding information

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2
Q

Is the DNA contained in organelles part of the genome?

A

no

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3
Q

Do viruses have genomes?

A

yes, but theirs is defined as the complete copy of the nucleic acid required to specify the virus, as they contain both DNA and RNA as genetic material

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4
Q

What is a gene?

A

A chromosomal segment that codes for a single functional polypeptide chain or RNA molecule

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5
Q

What are the 2 main components of the genome?

A

(1) Functional DNA

(2) Non-Functional DNA

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6
Q

What is functional DNA?

A

Functional DNA improves an organism’s fitness, and therefore these functional components are highly conserved (sequence-wise)

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7
Q

What is non-functional DNA?

A

It has no known biological contibutions

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8
Q

Do these genomes contain mostly functional or non-functional DNA?

(a) Prokaryote
(b) Eukaryote

A

(a) Functional

(b) non-functional

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9
Q

What is the 2 types of functional DNA?

A

(1) Coding DNA

(2) Non Coding DNA

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10
Q

What is coding DNA?

A

Codes for a specific protein

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11
Q

What is non coding DNA?

A

Does not code for a protein, but still has an important role, like regulation of gene expression or contributing to genomic complexity and/or variation

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12
Q

What does the human genome consist of? (3 characteristics)

A

(1) approx 3 billion nucleotide BPs
(2) 23 pairs of chromosome (22 autosomes and 2 sex chromosomes)
(3) estimated 20,000 to 25,000 genes

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13
Q

What is the human genome project?

A

Project initiated in 1990 that set out to sequence all of the genes in the human genome. It was completed in 2003

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14
Q

Describe the genome of bacteria

A

Their genome consists of a single circular DNA molecule several million base pairs long - genome of at least 1 species from virtually every known bacterial family has been sequenced

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15
Q

What are archea?

A

unicellular organisms with no internal organelles of nucleus. While they are similar to bacteria, they are more closely related to eukaryotes with respect to some genes and metabolic pathways

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16
Q

Why are archea important targets for study and genome sequencing

A

Their contributions to the chemistry of the biosphere as they include many species that thrive in extreme environments of high ionic strength, high temperature or low pH

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17
Q

What archaebacterium is used in molecular biology for isolating a heat resistant Taq Pol for PCR?

A

Streptococcus mutans

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18
Q

Describe the eukaryotic genome

A

Often considerably larger than genomes of bacteria or archae, consisting of billions of nucleotides

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19
Q

What are orthologs?

A

Genes from different species that evolved from a common ancestor - 2 genes in different species possess a clear sequence and functional relationship

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20
Q

What is LUCA?

A

Last Universal Common Ancestor and it he single-celled organism that gave right to all life on earth

21
Q

Describe the structure of chromosomes (3 characteristics)

A

(1) Shorter P-arm
(2) Longer Q-arm
(3) Centromere that separates the P-arm from the Q-arm

22
Q

How many chromosomes are in genomic human DNA?

A

46
22 homologous pairs of autosomes (44)
2 sex chromosomes (female = XX and male = XY)

23
Q

How many base pairs are there per chromosomes?

A

from 50 to 250 MILLION base pairs of DNA

24
Q

What is the dye Giemsa used for?

A

It tells us which areas are being actively expressed
dark = heterochromatin, not being expressed
light = euchromatin, actively expressed

25
Q

What is heterochromatin?

A

Condensed portion of chromosomes that are not transcriptionally active

26
Q

What is Euchromatin?

A

Areas of chromosome in which the genes are being actively expressed

27
Q

What are the 2 closest relatives to humans according to their genome

A

(1) chimpanzee

(2) bonobo

28
Q

What are the two types of genomic differences found between humans and chimpanzees

A

(1) Single nucleotide polymorphisms (SNPs)

(2) Large genomic rearrangements

29
Q

What are Single nucleotide polymorphisms? (SNPs)

A

Represent a genomic base pair change that helps distinguish one species from another, or one subset of individuals in a population
– Most common type of genetic variance among different people

30
Q

What are large genomic rearrangements?

A

Refer to larger alterations within the DNA sequence of chromosomes

31
Q

What are the 2 kinds of genomic rearrangements?

A

(1) Inversions

(2) Fusions

32
Q

What are inversions in genomic rearrangement?

A

Refer to a mutation that results from the inversion of a large segment of DNA in a chromosome
– caused by segmental duplication, transporition of one copy to another arm of the same chromosome, and recombination between the 2 segments

33
Q

What are fusions in genomic rearrangement?

A

Refer to the rearrangement of chromosomal DNA by deletion, duplication, insertion, or transposition to form a hybrid gene

34
Q

On which chromosome can you find inversions in the human lineage?

A

1, 12, 15, 16, and 18

35
Q

What is a genomic locus?

A

A particular position in a chromosome

36
Q

What are outgroups in genomic comparison?

A

More distantly related organisms

37
Q

What are homologs?

A

Any 2 genes with a demonstrable sequence similarity, whether or not they are closely related by function. The sequence similarity implies an evolutionary relationship – sequence similarity and a functional relationship go hand-in-hand

38
Q

What are paralogs?

A

Genes that are similarly related to each other but within a single species. Most often arise from gene duplication in a single genome, followed by specialization of one or both copies of the gene over the course of evolution

39
Q

Give an example of paralogs

A

In mice, there is the insulin 1 (Ins1) and insulin 2 (Ins2) genes, both of which encode for the hormone insulin

40
Q

Give an example of orthologs

A

Leptin (hormone involved in regulation of appetite) both humans (LEP) and mice (lep) have the gene for leptin and it plays a similar role in both

41
Q

What are the 8 necessary components within a genome?

A

(1) Coding sequences for RNA and protein molecules
(2) Signals for chromatin condensation/chromating remodeling
(3) Signals for initiation of replication and chromosomal integrity
(4) Control signal for on/off levels of expression
(5) Start and stop sites for transcription
(6) Processing signals for primary transcripts
(7) Control signals for dynamic access at right time and place
(8) Identifiers for coding sequences that must be coordinately or sequentially expressed

42
Q

What is the proportion of coding or exonic DNA vs the entire genome

A

less than 1.5%

43
Q

What are the 3 components of a single gene?

A

(1) Promoter sequence
(2) exons
(3) introns

44
Q

What is splicing?

A

Process of removing introns from a primary RNA transcript

45
Q

How can one gene have multiple protein products?

A

alternative splicing

46
Q

What does an exon often encode for?

A

a single domain of a larger, multidomain protein

47
Q

What is a pseudogene?

A

A section of a chromosome that is an imperfect copy of a functional gene

48
Q

What does the phrase “evolution seems to prefer splitting of genes” mean?

A

In genes highly conserved across all organisms, more complex organisms have introns while simpler organisms do not

49
Q

Why do humans and other vertebrates use RNA splicing extensively while simple organisms do not?

A

Alternative splicing allows multiple, functionally distinct proteins to be encoded by a single gene. This increases protein diversity. Splicing can be specific to certain tissues, conditions, and developmental states