Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetics > Human Genome > Flashcards

Human Genome Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

What are the 2 subunits of TF2D?

A

TBP & TF2H

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the function of TBP in TF2D?

A
  • binds to TATA box
  • recognizes methylation of histone 3, K4
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the function of TATA box in TF2D?

A

establishes where the primary transcript will begin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the function of TF2H in TF2D?

A
  • opens/exposes DNA for RNA polymerase 2
  • phosphorylates a subunitof rNA polymerase to start transcription
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the function of RNA polymerase 2?

A

transcribe and used for protein coding genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is primary transcript?

A

defines the egene space in the genome browser
that mostly gets processed to mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What does the primary transcript include?

A
  • 5’UTR
  • 3’UTR
  • introns
  • exons
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Does the primary trancript include the regulatory sequence?

A

no

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Are primary transcripts RNA or DNA?

A

RNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is translation?

A

using RNA code to add amino acids to make a protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is mRNA?

A

RNA that leaves to nucleus, goes to cytoplasm, and gets translated into a protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is a tRNA?

A

bring in amino acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the key components in translation?

A
  • mRNA
  • tRNA
  • AUG
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is AUG?

A

start codon that codes for Met

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the assigned terminus to the 5’ and 3’ ends?

A
  • 5’: N temrinus (has AUG)
  • 3’: C terminus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What occurs with V600E?

A
  • valine at position 600 mutates into glutamate
  • gains a negative charge
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the BRAF protein?

A
  • pro-proliferative kinase that is active when phosphorylated
  • gets things going
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What does each gene include?

A
  • regulatory sequences
  • exons
  • introns
  • 5’ UTR
  • 3’ UTR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

In genes, what is the charge of the coding and template strands?

A
  • coding = +
  • template = -
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the important numbers to know about gene sizing?

A
  • SRY = .9 kb
  • HBB = 1.6 kb
  • TP53 = 39 kb
  • F8 = 186 kb
  • CFTR = 250 kb
  • DMD = 2400 kb
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Whatis the trend in mutagenesis in gene sizing?

A
  • random
  • bigger the gene -> more likely for mutation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the characteristics of a gene family?

A
  • genes decended by duplication with a slight variation
  • homologous throughout entire length of sequence (70-80% similar)
  • clustered together or dispersed
  • similar nucleic and amino acid composition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are examples of a gene family?

A

globins & Ig families

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the 2 types of globin families?

A
  • fetal -> high affinity to O2 in placenta
  • adult -> lower O2; release of O2 in tissues
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Genes must be atleast what percentage to be considered the same family?

A

70%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Amino acids must be at least what percentage to be homologs?

A

20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is BLAT?

A
  • shorter
  • only nucleotides used to match sequence to genome
28
Q

What is BLAST?

A
  • longer
  • can compare using nucleotides or amino acids
29
Q

What are the types of immunoglobulins?

A
  • IgG
  • IgM
  • IgE
  • IgA
  • IgD
30
Q

What are the characteristics of immunoglobulins?

A
  • homologous
  • similar biochemical functions
31
Q

What are the 2 types of genes in immunoglobulins?

A

35 V & 5 J

32
Q

What genes are in heavy and light chains?

A
  • heavy -> V, D, J
  • light -> V & J
33
Q

How are gene families formed?

A

from duplication & mutations

34
Q

What is the main difference between gene and supergene families?

A
  • gene -> related by biochemical functions
  • supergene -> related by physiological function
35
Q

What can cause a supergene family?

A
  • exon shufling
  • reverse transcriptase making DNA from RNA
36
Q

Supergene families are composed of what percentage of homologous genes?

A

50%

37
Q

What is an example of a supergene family?

A

immunoglobulins

38
Q

What are the characteristics of a single copy DNA sequence?

A
  • one or few copies per haploid genome (< 100)
  • no upper or lower size
39
Q

What are the characteristics of a moderately-repetitive DNA sequence?

A
  • 100-1 million copies
  • clustered or dispersed
  • can be code or non-code
40
Q

What are the characteristics of a highly-repetitive DNA sequence?

A
  • 10^6
  • clustered
  • non-coding
41
Q

What are examples of highly-repetitive DNA sequences?

A

telomeres & centromeres

42
Q

What are examples of a moderately-repetitive DNA sequence?

A

LINEs & SINEs

43
Q

What are LINEs?

A
  • longer DNA that can encode proteins
  • reverse transcriptase
44
Q

What are SINEs?

A

too short to encode proteins

45
Q

Where are polyT tails located?

A

on cDNA to have A-T rich sequences as integration site targets

46
Q

What is exon shuffling?

A

downstream exon with cDNA inserts itself at new position

47
Q
A
48
Q

What is an important number to remember for rRNA?

A

Man is 280

49
Q

What are the 2 ribosomal units?

A

18S & 28S

50
Q

What are intervening sequences?

A

remnants after ribosomal subunits are cleaved

51
Q

How do intervening seuqences differ from introns?

A

not spliced together

52
Q

How many base pairs are in our genome?

A

3 billion

53
Q

How many times can mRNA be used?

A

many times

54
Q

What are variable number tandem repeats?

A

same sequence at the same location but different number of repeats

finger printing

55
Q

What are the characteristics of gel electrophoresis?

A
  • matrix where DNA moves towards the “+” end
  • heavy DNA moves slower -> more repeats
  • lighter DNA moves faster -> less repeats
56
Q

How many protein coding genes are there?

A

about 20,300

57
Q

What are transposons?

A
  • DNA that has moved due to reverse transcriptase
  • moves around exons
58
Q

What are CpG islands?

A
  • associated with regulatory regions
  • roles gene regulation (gene slicing)
59
Q

What does CpG methylation lead to?

A

gene inactivation

60
Q

What is cbioportal.org?

A
  • useful for bioinformatics studies
  • shows gene mutations in tumors of cancer patients
61
Q

What is COSMIC?

A
  • user friendly for basic info regarding cancer related genes and genome changes in cancer
  • catalog of somatic genes in cancer
62
Q

What is TCGA?

A

cancer genome atlas (data types = mutations)

63
Q

What is OMIM?

A

data base showing DNA mutations in individuals that can cause disease states

64
Q

What is SNPS?

A

simple difference in ones genome with no medical impact

65
Q

What is cons 100 verts?

A

refers to exon sequence for 100 vertebrates

Genetics (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions