Genomics structure and function of the human genome Flashcards

1
Q

What is the short and long arm in chromosmes?

A
  1. p arm is the short arm
  2. q arm is the long arm
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2
Q

What are the 4 types of chromosomes and what does it depend on?

A

Depends on where the centromere:
1. Metacentric
2. Sub-metacentric
3. acrocentric
4. telocentric

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3
Q

What are the 3 key features scientists use to identify chromosomes?

A
  1. Size
  2. Banding pattern
  3. Centromere position
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4
Q

What do chromosomes usually exist as?

A

Usually exist as chromatin

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5
Q

What is DNA double helix bound to?

A

DNA double helix bounds to histones

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6
Q

What forms nucleosome?

A

Octamer of histones form nucleosome

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7
Q

What histones are present in the octamer that forms the nucleosome?

A
  1. 2x(H2A, H2B, H3 and H4)
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8
Q

What is histone H1 for in nucleosome?

A

H1 binds to these nucleosomal core particles close to the DNA entry and exit sites and protects the free linker DNA

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9
Q

What is euchromatin?

A

Extended state, dispersed through nucleus

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10
Q

What does euchromatin allow in terms of gene expression?

A

Allows gene expression

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11
Q

What state is heterochromatin and hows the gene expression like?

A

Highly condensed, genes not expressed

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12
Q

Steps in compaction of chromosome

A

Chromosome –> chromatin fiber –> histones –>Beads on a string(DNA wound on nucleosomes)–> double helix

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13
Q

What do centromeres keep together?

A

Keep sister chromatids together

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14
Q

What do centromeres attach to?

A

Attach to microtubules during cell division

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15
Q

What are centromeres rich in?

A

Rich in heterochromatin

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16
Q

What is the repetition like in centromeres?

A

Highly repetitive

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17
Q

What do telomeres protect?

A

Telomeres protect the ends of the chromosomes

18
Q

What does telomerase repair?

A

Telomerase repairs telomeres
but is only active in certain cell
types

19
Q

What can telomerase being activated in the wrong cell lead to?

A

If telomerase is switched on in
the wrong cells this can lead to
cancer

20
Q

What are protein-coding genes known as?

A

Exomes

21
Q

What do exons code for?

A

code for amino acids except for Untranslated Regions (5’UTR & 3’UTR)

22
Q

What do UTR contain and what is it important for?

A

contain regulatory elements (important for control of protein synthesis)

23
Q

What are introns?

A

non-coding section of gene between exons

24
Q

What is the promoter region?

A

5’ of gene; contains important regulatory
elements for transcription

25
Q

How many autosomes and sex chromosomes are there in the nuclear genome?

A

-22 pairs of autosomes
-1 pair of sex chromosomes

26
Q

What are transcribes units in the nuclear genome also known as?

A

Genes

27
Q

How many bases are in the mitochondrial genome?

A

16Kb

28
Q

What does the D-loop in the mitochondrial genome contain?

A

Contains promoters for light and heavy strands

29
Q

How many coding genes are there in mitochondrial genome?

A

13 coding genes

30
Q

How many non-coding genes are there in the mitochondrial genome?

A

24 non-coding genes

31
Q

What type of inheritance is mitochondria and why?

A

Maternal inheritance
-This is because only OVA provide mitochondria

32
Q

What are the purines in DNA?

A

-Adenine
-Guanine

33
Q

What are the pyrimidines in DNA?

A

-Cytosine
-Thymine

34
Q

What is the epigenome and what are examples?

A

-Chemical compounds that attach to DNA or histones and can affect gene activity
-E.g. DNA methylation, histone acetylation

35
Q

How does the epigenome affect gene activity?

A
  • Alter chromatin structure
  • Recruit histone modifiers
  • Repress transcription
  • Genome-wide pattern established at fertilisation
  • Important for differential gene expression (transcription)
  • Responds to environmental cues (cellular and external)
36
Q

What is gene expression controlled by?

A

Controlled by DNA sequence and epigenome

37
Q

What is differential gene expression in time?

A
  • Development (i.e. embryos versus adults)
  • In response to hormones, infection, other signals
38
Q

What is spatial differential gene expression?

A

Different tissues/cells express different genes (e.g. brain vs liver)

39
Q

What can a failure to regulate gene expression tightly lead to in metabolism?

A

Metabolic disease

40
Q

What can failure to regulate gene expression tightly lead to in cell shape/motility?

A

Metastasis

41
Q

What can failure to regulate gene expression tightly in cell differentiation?

A

Congenital disorders