Lecture 1 Flashcards

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1
Q

Homolog

A

-Genes share a common ancestral DNA sequence

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2
Q

Ortholog

A
  • Genes found in different species that have evolved from a common species via speciation
  • often retain same function
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3
Q

Paralog

A
  • genes produced by gene duplication as the main event

- develop new function in each species

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4
Q

CpG Islands

A
  • DNA segment> 200bp
  • Expected GC > 60% but it is 50%
  • found near promotor genes (mutation hotspot)
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5
Q

How do Somatic cells differ from Germ Cells

A
  • do not share same amount of genetic material/same sequences
  • SOmatic = many nuclie
  • Somatic cells of immune system have unique gene material due to Gene-rearrangement
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6
Q

Template vs Non-Template Synthesis

A

Template synthesis:

  • DNA serves as template
  • produces: Proteins/Enzymes

Non-Template Synthesis:

  • CHO and Lipids
  • enzymes make them
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7
Q

Genome

A

-all the genetic material of a cell

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8
Q

Genetics

A

-Study of individual genes and their inheritance + variability

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9
Q

Genomics

A

-study of entire genome and gene interactions

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10
Q

Sense strand

A

-the mRNA derived from transcription will read like the sense strand

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11
Q

Anti-Sense Strand

A

-used as a template for mRNA synthesis

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12
Q

How does RNA structure differ from DNA

A
  • Uracil instead of Thymidine
  • Extra -OH on 2nd C of the Ribose sugar
  • Single stranded
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13
Q

Basic DNA structure

A

-db Helix (146 NT Pairs) wrap around 8 Histones -> Nucleosomes (chromatin) –> wrap in 30nm solenoid chromatin –> condenses into greater structure

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14
Q

Scaffold in DNA structure

A

Topiomerase II:
- is the scaffold region which Solenoid DNA is organised on

SAR (scaffold attachment region)

  • untranscribed
  • Top 2 binds to it
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15
Q

Chromatin vs Chromosome

A

Chromatin:
-unwound, uncondensed DNA material of INTERPHASE (G1,S,G2)

Chromosome:
-wound, tightly coiled DNA of DIVIDING CELLS

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16
Q

Gene

A

-unit of Inheritance (part of the DNA or RNA)

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17
Q

Locus

A

-location of a given gene on a chromosome

18
Q

Allelle

A

-gene variant at a given locus

19
Q

Wild Type Allele

A

-most frequent variant of a given gene in nature

20
Q

Genotype

A

-genetic composition for an individual or a locus

21
Q

Homozygote

A

-identical alleles at the same loci of the chromosome pair

22
Q

Heterozygote

A

-different alleles at the same loci of the chromosome pair

23
Q

Hemizygote

A

-only on single copy of the gene

24
Q

Ploidy

A

-Ploidy refers to the number of Homologous chromosomes in a cell

Haploid:
-cell contains one set of chromosomes

Diploid:
-cell contains 2 sets of chromosomes

25
Q

Dominant Allele

A

-a gene variant that phenotypically always results in a given character

26
Q

Recessive Allele

A

-an allele which manifests phenotypically in Homo/Hemizygotes

27
Q

How many diseases follow Mendelian Inheritance

A

> 6000

28
Q

Mendelian Genetic laws

A
  1. Law of Segregation:
    - during gamete formation - members of allele pairs separate so that each gamete only recieves one allele for a corresponding gene
  2. Law of Independent Assortment:
    - genes for different traits assort indepedently of each other during gamete formation
  3. Law of Dominance:
    - dominant allelles will mask recessive alleles in hetereozygotes
29
Q

Mitochondrial DNA

A
  • maternal lineage (as sperm does not contribute to cytoplasm)
  • 37 genes - NO Introns/Histones/poor repair mechanisms
  • high rate of mutation + non-Mendilian pattern of inheritance
30
Q

What does Mitochondrial DNA code for

A

-code for TRP (by TGA - instead of it being stop codon)

31
Q

Types of Repeating Units

A

1) LINE (long interspersed elements)
2) SINE (short interspersed elements)
3) DNA Transposons
4) LTR Transposons (Retrovirus like elements)

32
Q

Autonomous vs Non-Autonomous Repeatin Units

A

Autonomous - encode for their own protein

Non-Autonomous - do not encode for their own but use Autonomous proteins

33
Q

LINE

A
  • autonomous
  • 20% of total genome
  • encode for Reverse Transcriptase
34
Q

SINE

A
  • non-autonomous
  • 13% of genome
  • uses RT from LINE
35
Q

LTR Transposons

A
  • both
  • 8% of total genome
  • at each of their ends -> Long Terminal Repeats
36
Q

DNA Transposons

A
  • both
  • Class 2 -> 3% of genome
  • encode Transposase (have short inverted repeats on their ends)
37
Q

Class 2 DNA Transposons

A

-Cut and PAste

38
Q

Class 1 Retrotransposons

A

-Copy and Paste

39
Q

TATA BOX

A
  • DNA sequence found in many Gene promotor’s
  • serve as a binding site for - TF or Histones
  • TF2 -> RNA Polymerase II –> start transcription
40
Q

5’UTR

A
  • aka= Leader Sequence

- region of mRNA directly above inititiation codon

41
Q

Imp of 5’UTr

A
  • reg of translation
  • may form complex secondary structures
  • or translate into protein product that then regulates translation
42
Q

Euchromatin vs Hetereochromatin

A
  • DNA in nuclear exists in 2 forms reflecting the cellular activity state
  • Hetereochromatin: dark, irreglar patches (in not active/low active cells)
  • Euchromatin: dispersed + not readily stained (in active cells)