3.2 chromosomes Flashcards

1
Q

what are autosomes?

A

chromosomes that do not determine sex

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2
Q

what is the difference between genome size and genome number?

A

genome number: number of genes

genome size: total length of dna in organism

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3
Q

what is the difference between karyotype and karyogram?

A

karyotype: property of a cell; number and type of chromosomes present in nucleus of eukaryotic cell; determined by a process that involves:
- harvesting cells (usually from foetus / white blood cells of adults)
- chemically inducing cell division, then arresting mitosis while the chromosomes are condensed
- stage during which mitosis is halted (metaphase: chromosomes most aligned and visible) will determine whether chromosomes appear with sister chromatids or not
- chromosomes stained and photographed to generate a visual profile known as a karyogram

karyogram: photograph / diagram of chromosomes
- chromosomes of an organism are arranged into homologous pairs according to size (with sex chromosomes shown last)

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4
Q

what kinds of dna do prokaryotes have?

A

2 kinds of dna used as genetic material:

  • single circular chromosomal dna
  • multiple optional and accessorial dna (plasmids)
  • single circular chromosomal dna coiled up and concentrated within nucleoid region in prokaryote
  • no concept of being diploid; each gene exists as single copy
  • chromsomal dna replicated prior to binary fission
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5
Q

what are the features of dna plasmids?

A
  • extra chromosomal
  • naked dna; not associated with proteins
  • small and circular dna
  • not responsible for essential and normal life processes of the cells
  • commonly contain additional survival characteristics like antibiotic resistance / resistance to certain conditions
  • can be passed between prokaryotes
  • plasmids are not naturally occurring in eukaryotic cels but some are capable of carrying and expressing genes on plasmid dna
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6
Q

how did scientists measure the length of dna molecules?

A
  • cairns’ technique for measuring length of dna molecules by autoradiography
  • e. coli cultured on a medium containing radioactively labelled thymidine (made using isotope of hydrogen)
  • as bacterial cells grew in numbers, dna was actively synthesised utilising labelled thymine ( “t” nucleotide)
  • bacterial cells were lysed using enzymes and dna fixed onto a photographic surface and immersed into radioactively sensitive photographic emulsion
  • radiation released by labelled thymine caused darkening on photographic emulsion, thus allowing scientists to view dna chromosomes
  • resulting images: dna in e. coli had an average length of 1, 100 μm while e. coli cells were about 2 μm long

ACTUAL PROCESS:
PREPARATION
1. incubate cells in radioactive H^3 – T (thymidine)
2. gently lyse cells and fix contents
3. embed contents onto slide
4. immerse slide in radioactively-sensitive emulsion

PROCESS

  1. slide dipped in silver bromide (AgBr) emulsion (AgBr crystals present)
  2. radiation activates nearby Ag+ ions
  3. activated Ag+ ions reduced to Ag metal
  4. soluble ions washed away to leave metal

DEVELOP

  1. expose slide to photographic film
  2. develop to transfer image to film
  3. autoradiograph produced
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7
Q

what are eukaryote [NOT BACTERIA] chromosomes?

A
  • linear dna molecules associated w histone proteins
  • dna highly packaged to fit into nucleus of cell
  • dna: 2 strands in double helix structure
  • coiled around globular pieces of dna known as histones (wound around the histones in a “beads on a string” structure)
  • nucleosomes: structures formed when dna wraps around single histone

bacteria has no histones
dna –> nucleosome –> chromatine –> chromatine loops –> condensed chromatine loops –> chromosome

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8
Q

how are chromosomes formed?

A
  1. at simplest level, chromatin is a double-stranded helical structure of dna
  2. dna is complexed with 8 histone proteins (octamer) to form nucleosomes
  3. linked by an additional histone protein (h1 histone) to form a string of chromatosomes
  4. coil to form a solenoid structure (~6 chromosomes per turn) which is condensed to form 30 nm fibre
  5. fibres form loops, which are compressed and folded around a protein scaffold to form chromatin
  6. chromatin then supercoils during cell division to form chromosomes that are visible (when stained) under microscope

dna –> nucleosome –> chromatosome –> solenoid –> 30 nm fibre –> chromatin –> chromosomes

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9
Q

what is a centromere?

A

constriction point on a chromosome that divides the chromosome into 2 sections

  • shorter section: p arm
  • longer section: q arm
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10
Q

how do eukaryotic chromosomes differ from one another and how can this be identified?

A
  • chromosomes may differ in size and position of centromere

- chromosomes can be stained with particular dyes e.g. giemsa stain to generate unique banding patterns

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11
Q

what is the locus? (plural: loci)

A

each chromosome carries specific genes; position of particular gene on chromosome is the locus
- consistent throughout the species

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12
Q

how do you identify the locus using codes like 7q31?

A
  1. first number denotes chromosome (in 7q31, chromosome 7)
  2. letter denotes which arm the locus is positioned on (in 7q31, the longer arm q)
  3. number corresponding to G (gene?) band location
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13
Q

why are there homologous chromosomes?

A
  • sexually reproducing organisms inherit genetic sequences from both parents
  • fertilisation event: 2 haploid cells fuse together to form 1 zygote; each haploid gamete contributes 1 chromosome
  • possess 2 copies of each chromosome; 1 maternal 1 paternal
  • maternal and paternal pairs: homologous chromosomes
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14
Q

what are homologous chromosomes?

A

chromosomes that:

  • same structural features (e.g. same size, same banding patterns, same centromere positions
  • same genes at same loci positions (genes same, alleles may be different)
  • must be separated in gametes (via meiosis) prior to reproduction to prevent chromosome numbers continually doubling w each generation
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15
Q

what are diploid nuclei?

A
  • nuclei possessing pairs of homologous chromosomes (2 copies of each chromosome)
  • 2n
  • possess 2 gene copies (alleles) for each trait but the genes do not have to be identical
  • all somatic cells are diploid, with new diploid cells created by mitosis
  • present in most animals and many plants
  • diploid organism more likely to survive chromosomal damage and mutations as there is still chance of having 1 functional chromosome / gene
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16
Q

what are haploid nuclei?

A
  • nuclei possessing only 1 set of chromosomes (no homologous chromosomes)
  • n
  • all sex cells; derived from diploid cells by meiosis
  • present in bacteria (asexual) and fungi (except when reproducing)
17
Q

how is sex determined?

A

determined by pair of sex chromosomes (heterosomes); females possess 2 copies of large X chromosome, males possess 1 X and 1 Y chromosome; remaining chromosomes in organism are called autosomes (do not determine sex)

  • humans have 23 pairs of chromosomes in diploid somatic cells
  • 22 pairs: autosomes; 1 pair: sex chromsomes
  • presence and expression of sry gene y leads to male development
  • x carries many genes in non-homologous region not present on y
18
Q

how many chromosomes are there in homo sapiens (humans)?

A
46
pan troglodytes (chimpanzee): 48
canis familiaris (dog): 78
oryza sativa (rice): 24
parascaris equorum (roundworm): 2
19
Q

how many chromosomes are there in pan troglodytes (chimpanzee)?

A
48
homo sapiens (humans): 46
canis familiaris (dog): 78
oryza sativa (rice): 24
parascaris equorum (roundworm): 2
20
Q

how many chromosomes are there in canis familiaris (dog)?

A
78
homo sapiens (humans): 46
pan troglodytes (chimpanzee): 48
oryza sativa (rice): 24
parascaris equorum (roundworm): 2
21
Q

how many chromosomes are there in oryza sativa (rice)?

A
24
homo sapiens (humans): 46
pan troglodytes (chimpanzee): 48
canis familiaris (dog): 78
parascaris equorum (roundworm): 2
22
Q

how many chromosomes are there in parascaris equorum (roundworm)?

A
2
homo sapiens (humans): 46
pan troglodytes (chimpanzee): 48
canis familiaris (dog): 78
oryza sativa (rice): 24
23
Q

how do you diagnose down syndrome?

A
  • using karyogram
  • karyotyping typically occurs prenatally and is used to determine gender and test for chromosomal abnormalities
  • amniocentesis / chorionic villus samples can be taken and a karyotype can be constructed

down syndrome:

  • condition where individual has 3 copies of chromosome 21
  • caused by non-disjunction event (failure of homologous chromosomes / sister chromatids to separate) in one of parental gametes
  • extra genetic material causes mental and physical delays in child development
24
Q

what key events that occur during chromosomal replication did john cairns use autoradiography to demonstrate?

A
  1. dna replication involves formation of replication bubble (prokaryotic replication involves single origin of replication)
  2. dna replication is bi-directional (occurs independently at both ends of replication bubble)
25
Q

what are the general rules of genome size?

A
  • not a valid indicator of genetic complexity
  • virus and bacteria have very small genomes
  • prokaryotes typically have smaller genomes than eukaryotes
  • sizes of plant genomes can vary dramatically due to capacity for plant species to self-fertilise and become polyploid
26
Q

what is the genome size of t2 phage (virus)?

A

t2 phage (virus): 170, 000 base pairs (bp)

escherichia coli (bacteria): 4.6 million bp
drosophila melanogaster (fruit fly): 130 million bp
homo sapiens (humans): 3.2 billion bp
paris japonica (canopy plant): 150 billion bp
27
Q

what is the genome size of escherichia coli (bacteria)?

A

escherichia coli (bacteria): 4.6 million bp

t2 phage (virus): 170, 000 base pairs (bp)
drosophila melanogaster (fruit fly): 130 million bp
homo sapiens (humans): 3.2 billion bp
paris japonica (canopy plant): 150 billion bp
28
Q

what is the genome size of drosophila melanogaster (fruit fly)?

A

drosophila melanogaster (fruit fly): 130 million bp

t2 phage (virus): 170, 000 base pairs (bp)
escherichia coli (bacteria): 4.6 million bp
homo sapiens (humans): 3.2 billion bp
paris japonica (canopy plant): 150 billion bp
29
Q

what is the genome size of homo sapiens (humans)?

A

homo sapiens (humans): 3.2 billion bp

t2 phage (virus): 170, 000 base pairs (bp)
escherichia coli (bacteria): 4.6 million bp
drosophila melanogaster (fruit fly): 130 million bp
paris japonica (canopy plant): 150 billion bp
30
Q

what is the genome size of paris japonica (canopy plant)?

A

paris japonica (canopy plant): 150 billion bp

t2 phage (virus): 170, 000 base pairs (bp)
escherichia coli (bacteria): 4.6 million bp
drosophila melanogaster (fruit fly): 130 million bp
homo sapiens (humans): 3.2 billion bp