Final Flashcards

1
Q

Association of Genes and Chromosomes

A

Red eyes being the dominant phenotype (represented by “X^R”) and white eyes being the recessive phenotype (represented by “X^w”)

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2
Q

Sex Linked-Traits

A

o Sex-linked traits are those more frequent in either males or females
o They are usually associated with genes on either the X (X-linked) or Y (Y-linked) chromosomes

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3
Q

Mammal Sex chromosomes

A

 X is large, with about 900 genes
 Y is small, about 100 genes, highly degraded
 During meiosis I, X and Y pair in a single region, the pseudoautosaomal region. The rest of the X/Y are very different from each other, and so do not align with each other.

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4
Q

Homozygous

A

X-X- shows recessive

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5
Q

Heterozygous

A

X+X- does not show trait

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6
Q

Hemizygous

A

X-Y shows recessive phenotype
X+Y does not show phenotype

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7
Q

X Chromosome inactivation

A

In females, only one of two X chromosomes express genes

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8
Q

Barr Body

A

One chromosome remains unwound and can express genes, the other is highly condensed

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9
Q

Gene-Linkage

A

Proximity of two or more genes one a chromosome can affect patterns of inheritance

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10
Q

Gene-Linkage of fruit flies

A

o The two more common offspring classes represent the parental gametes (alleles in combination found in the parents chromosomes)
o The two less common offspring classes represent transmission of recombinant gametes (chromosomes result from crossing over between homologous chromosomes during meiosis in the F1 females)

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11
Q

Aneuploidy

A

An incomplete set of chromosomes

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12
Q

Trisomy

A

One extra chromosome

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13
Q

Monosomy

A

Missing one chromosome

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14
Q

Nondisjunction

A

failure of homologous chromosomes (meiosis I) or sister chromatids (meiosis II and mitosis) to separate at anaphase

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15
Q

Down Syndrome

A

Extra copy of Chromosome 21, Trisonomy 21

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16
Q

“Common” sex chromosome Aneuploids

A
  • XXY: Klinefelter syndrome
  • XYY: about 1 in 1000 males, no apparent complications
  • XXX: triple X females, no apparent complications
  • XO: Turner’s syndrome, the only known viable monosomy in humans
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17
Q

Chromatin

A

Complex of DNA & proteins

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18
Q

Histones

A

Primary Proteins

Form octamers (groups of eight) called Nucleosomes

DNA winds around each nucleosome twice, about 150 bp

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19
Q

Euchromatin

A

Interphase chromosomes are usually in unpacked state

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20
Q

Heterochromatin

A

Highly Packed State

Inaccessible and so, not expressed

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21
Q

Chargaff’s rule

A

The rule that in DNA there is an equal amount of A&T and G&C

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22
Q

3 model’s of DNA replication

A

Conservative, semiconservative, dispersive

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23
Q

Conservative model

A

This model proposes that the original DNA molecule remains completely intact and a completely new DNA molecule is formed from scratch, essentially creating one “old” DNA and one “new” DNA

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24
Q

Semi-Conservative model

A

This model suggests that each strand of the original DNA molecule serves as a template to create a new complementary strand, resulting in two new DNA molecules, each containing one strand from the original DNA.

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25
Q

Dispersive model

A

This model proposes that the original DNA strands become fragmented, and the new DNA is created by mixing pieces of the old strands with new pieces, resulting in a DNA molecule with segments of both old and new DNA interspersed throughout.

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26
Q

Meselson & Stahl 1953

A

Conducted an experiment that provided conclusive evidence that DNA replicates semi-conservatively

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27
Q

Meselson & Stahl experiment

A

Tested bacteria using heavy isotope of nitrogen, 15N (normally 14N is lighter)

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28
Q

Origin of Replication

A

At origin of replication, DNA strands disassociate forming a replication bubble. The regions on the flanking ends are the replication forks.

29
Q

DNA Replication Prokaryote vs Eukaryotes

A

o In prokaryotes, with only a single circular chromosomes, there is just one origin of replication
o In eukaryotes, with several to many linear chromosomes, there are many origins if replication

30
Q

Helicases

A

Untwist DNA double-helix and separate DNA strands

31
Q

Single-stranded binding proteins (SSBDs)

A

Bind and stabilize single-stranded DNA (ssDNA).

32
Q

Topoisomerases

A

Relieve tensional strain of DNA molecule by breaking, swiveling, and rejoining DNA.

33
Q

Primase

A

Add short RNA primers (~5-10 nucleotides), to provide 3’ end for DNA polymerase to add nucleotides to

34
Q

DNA polymerase III

A

Adds nucleotides to RNA primers

35
Q

DNA polymerase I

A

Replaces RNA primers with DNA nucleotides

36
Q

DNA ligase

A

Joins DNA backbone of DNA strands from replaced primer and Okazaki fragments

37
Q

Okazaki fragments

A

Short DNA sequences that are created during DNA replication when the lagging strand is synthesized discontinuously

38
Q

Gene Expression

A

The process by which information encoded in DNA produces functional proteins.
DNA > RNA > Protein

39
Q

Transcription

A

synthesis of messenger RNA (mRNA) from region in DNA

40
Q

Translation

A

synthesis of polypeptide using mRNA through action of ribosomes

41
Q

Gene Expression Prokaryotes vs Eukaryotes

A

In prokaryotes, gene expression is primarily regulated at the transcriptional level and occurs almost simultaneously with translation in the cytoplasm

In eukaryotes, gene expression is regulated at multiple levels including transcription, RNA processing, and translation

42
Q

3 Stop Codon

A

UAG, UAA, and UGA

43
Q

1 Stop Codon

A

AUG

44
Q

Redundancy

A

Multiple triplets can encode the same amino acid

45
Q

Coding Strand

A

Also called nontemplate strand, sequence that is the same as what will form the messenger RNA (mRNA).

46
Q

Template Strand

A

used to synthesize its complement into an mRNA molecule.

47
Q

Initiation

A

Proteins called transcription factors mediate binding of RNA polymerase II to the promotor region upstream of coding sequence.

48
Q

RNA polymerase II form initiation complex

A

requires a specific sequence called a TATA box in the promotor region for transcription initiation to be initiated.

49
Q

Elongation

A

RNA polymerase travels down template strand and synthesizes mRNA molecule

50
Q

Termination

A

In eukaryotes, RNA transcribes a polyadenylation sequence (~10-35 nucleotides) and then the RNA molecule is released (produces pre-mRNA)

51
Q

pre-mRNA

A
  1. 5’ cap: a modified nucleotide, guanosine triphosphate (GTP) is added to the 5’ end of RNA molecule
  2. 3’ polyA tail: series of Adenines (~50-250 nucleotides) are added to the 3’ end of the pre-mRNA
52
Q

Introns vs Exons

A

the mRNA coding region comprised of exons, which code for amino acids, and introns, which do not code for amino acids. Introns must be removed for successful translation

53
Q

Spliceosomes

A

A complex of proteins and RNA molecules that bind sequences at intron-exon junctions

54
Q

Components of translation

A
  • Mature mRNA
  • Ribosomes
  • Transfer RNAs (tRNA)
55
Q

Direction mRNA is read

A

mRNA read 5’  3’ by the ribosome

56
Q

Transfer RNA

A
57
Q

Ribosomes

A
  • Two subunits, large and small
  • These subunits join after the small subunit has associated with an mRNA
  • Ribosome has four binding sites: 1 for mRNA (on small subunit) 3 for tRNAs (on large subunit
58
Q

Initiation

A

5’ end of mRNA binds to mRNA binding site of small ribosomal subunit

59
Q

Elongation

A

tRNA shifts from A > P site, then P > E site > uncharged tRNA exits ribosome

60
Q

Termination

A
  • A site accepts “release factor”, a protein that incorporates H2O instead of an amino acid
  • This release the polypeptide, terminating translation, and the ribosome disassembles
61
Q

Mutation

A

When there is a change in the DNA of a cell

62
Q

Silent Mutation

A

change in DNA does not effect which amino acid is encoded
* This happens because of the redundancy in the genetic code

63
Q

Missense Mutation

A

change in DNA that change the amino acid encoded. \
* This produces a single amino acid change in there resulting polypeptide

64
Q

Nonsense Mutation

A

change in DNA produces a stop codon
* This truncates the polypeptide translated, and usually has a severe effect on the functionality of the protein

65
Q

Insertions/deletion

A
  • Change in the length of the DNA, thus mRNA
  • If not in a multiple of three (a codon), this changes the reading frame, thus the identity of all amino acids downstream of the indel
66
Q

Respiratory System of vertebrates

A
  • All organisms must acquire nutrients and other resources from their environment
  • For small, simple substances like O2 and CO2, this happens by diffusion through the plasma membrane
66
Q

Lungs

A

o Infoldings of the body surface, divided into numerous small pockets
o Shared (nearly) all terrestrial vertebrates
o Pathway of air intake

67
Q

Pathway of air pressure

A

o Inhalation: Contraction of rib muscles and diaphragm
o Pathway through nasal and oral cavity
o Past pharynx and larynx
o Down trachea to bronchi
o To bronchioles
o To alveoli
 Gas exchange to capillaries by diffusion

68
Q

 Respiratory system cleaning

A

o Cilia & mucus line epithelium of air pathway to move particles up towards the oral/nasal cavity.
o Alveoli cells lack cilia, so cannot clean themselves