Chapter 2- gene structure and organization Flashcards

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1
Q

functions of non-coding DNA

A
  • control how our genes work (transcription and translation)
  • promoters and enhancers
  • make non-coding RNA
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2
Q

miRNA

A
  • fn: silence genes by binding to mRNA and degrade it, can prevent attachment of ribosomes
  • miRNA gene can be present anywhere
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3
Q

how does miRNA become mature?

A
  • cleaved to shorter precursor miRNA
  • forms stem loop structure
  • exportin exports miRNA to cyptoplasm
  • further cleaved by dicer
  • forms mature miRNA with help of Ago
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4
Q

long ncRNAs

A
  • 200 to thousands of nucleotides long

- fn: regulate allelic expression (x chromosome inactivation, imprinting), development, found in some disease states

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5
Q

allele

A

any possible form in which a gene for a trait can exist, usually two alleles are inherited, one from each parent

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6
Q

tiny ncRNA

A
  • miRNA and siRNA is a type of tiny ncRNA

- expressed in defined cell type or at specific stage of early development

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7
Q

competing endogenous RNAs

A
  • “inhibitor of inhibitors”
  • bind to miRNA and destroy it
  • formed from pseudogenes
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8
Q

what are pseudogenes?

A
  • “retired” genes

- during evolution they once formed a protein, now so old they lost their capacity to code for proteins

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9
Q

Repetitive DNA sequence

A
  • forms significant portion of DNA
  • either functional or uncertain function
  • RS with uncertain function form minisatellites and microsatellites used in forensic science (DNA fingerprinting)
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10
Q

transposons

A
  • jumping genes
  • can cut itself, wander, and join in another place
  • some replicate and leave a copy in original place
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11
Q

retroposons

A
  • transposons with RNA intermediate
  • RNA reverse transcribed into DNA
  • play big rile in evolution and multiple copies of genes
  • most transposons are not functional except for a few retroposons
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12
Q

heterochromatin

A
  • inactive form of DNA

- so condensed it cannot be transcribed

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13
Q

euchromatin

A
  • active part of DNA
  • more relaxed/ less condensed
  • has the majority of highly repetitive noncoding DNA
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14
Q

advantage of DNA sequence duplication

A
  • having excess protein helps to ensure that more gene product can be made
  • allows for new proteins to have specialized function
  • helps in evolution of gene variance (i.e. through alternate splicing)
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15
Q

disadvantage of DNA sequence duplication

A

repeated DNA sequences can be prone to instability

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16
Q

ortholog genes

A

genes which perform same function in different species

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17
Q

paralog genes

A

genes which perform new function in different species

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18
Q

endosymbiont theory

A

mitochondrial genome started as prokaryote that was engulfed by eukaryotic cell

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19
Q

mitochondrial genome

A
  • has own synthesizing material
  • 95% of genes are functional
  • all mitochondria you have as an adult comes from your mother
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20
Q

chromosome

A

threadlike structure of nucleic acid and proteins found in nucleus of cell, has genetic info that forms gene

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21
Q

why is genetic info tightly packed?

A
  • so that DNA doesn’t get twisted in the cell

- helps to separate info properly during mitosis

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22
Q

chromatin

A

genetic material that condenses to form chromosomes

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23
Q

chromatid

A

makes up one section of the chromosome- half the “x” of a chromosome

24
Q

replication origin

A

sequence of DNA where protein factors bind to start replication

25
Q

centromere

A

part of chromosome that links sister chromatids

26
Q

telomere

A

end of the chromosome, helps to maintain chromosomes integrity

27
Q

what is the role of the telomore?

A
  • maintain chromosomal integrity
  • during replication, end of chromosome isnt replicated well so gradually lose the info there
  • telomere is made up of repeated, unwanted info that is ok to lose
  • when telomere is gone replication ends
28
Q

haploid cells

A

one set of chromosomes- sperm and egg cells

29
Q

diploid cells

A

two copies of chromosomes, one set from mother and one from father

30
Q

homologs

A

maternal and paternal copes of same chromosomes

31
Q

cell cycle phases

A
  1. G1
  2. G1-S
  3. S
  4. G2
  5. M
32
Q

G1 phase

A

Activate genes transcribed, duplicate cell contents except for nuclear material

33
Q

G1-S phase

A

response to a signal i.e. growth factor

34
Q

S phase

A

synthesis of DNA

35
Q

G2 phase

A

check for DNA errors

36
Q

M phase

A

nuclear division (mitosis) and cell division (cytokinesis)

37
Q

What is the purpose of mitosis?

A

divide nuclear material, result is diploid cells

38
Q

what are the phases of mitosis?

A
  1. prophase
  2. prometaphase
  3. metaphase
  4. anaphase
  5. telophase
  6. cytokinesis
39
Q

prophase

A
  • “prep” phase
  • chromosome condenses
  • nuclear membrane breaks down, centrosome divides
  • spindles formed
40
Q

prometaphase

A
  • sister chromatids become attached to spindle

- polar microtubules overlap near equator

41
Q

metaphase

A

chromosomes line up at equator

42
Q

anaphase

A
  • centromere divides and each chromatid is now separate chromosome
  • microtubles shorten and chromosomes move towards poles
43
Q

telophase

A
  • chromosome decondenses
  • spindles break down
  • 2 nuclear membranes form at each pole
  • shortest phase
44
Q

cytokinesis

A

distribute cytoplasm and its organelles to two daughter cells

45
Q

what is meiosis?

A

division of reproductive cells, undergoes 2 divisions

- the second division is like mitosis

46
Q

what is the result of meiosis in males?

A

four haploid sperm cells

47
Q

what is the result of meiosis in females?

A

one haploid egg and three polar bodies

48
Q

what is synapsis?

A
  • joining of two pairs of sister chromatids and chromosomal material is exchanged/crossed over
  • occurs during meiosis
49
Q

prophase I

A
  • meiosis
  • homologous chromosomes pair together, form bivalent
  • process of pairing= synapsis
50
Q

metaphase I

A
  • meiosis

- chromosomes move to equator

51
Q

anaphase I

A
  • meiosis

- homologous chromosomes pulled to opposite poles

52
Q

how does meiosis ensure genetic diversity?

A
  • recombination

- independent assortment

53
Q

what is recombination?

A
  • synapsis of paternal and maternal homologs
  • after replication homologs align resulting in bivalent
  • DNA physically breaks from one chromosome, switches to the other
  • commonly occurs in subtelometric region
  • occurs during meiosis I
54
Q

what is independent assortment?

A
  • alleles for one trait segregate independently from alleles for another trait
  • occurs during metaphase I
55
Q

leukemia

A
  • miRNA overexpressed
  • moves balance to cell proliferation- results in low cell differentiation
  • too many blast cells/ immature cells
56
Q

hemophilia

A
  • transposons lead to unstable DNA
  • due to mutation in factor VIII gene
  • results in clotting deficiency