Genome Flashcards

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1
Q

Define gene

A

A segment of DNA on a chromosome (nuclear and mitochondrial) that encodes a functional RNA

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2
Q

Define genome

A

The entire complement of DNA in an organism

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3
Q

What is the human genome made up of?

A

Only about 25% of genes have to do with proteins (1% exons, 24% introns), over 50% are transposons and replicated DNA

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4
Q

What is the mitochondrial genome made up of?

A

37 genes, 22 tRNA, 2 rNA, 13 protein coding

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5
Q

Noncoding RNAs

A

Have various functions, can be transcribed by either exons or introns

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6
Q

Simple sequence repeats

A

Mini-satellites and micro-satellites

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7
Q

Retrotransposons

A

Generated by the reverse transcription of RNAs into cDNAs and insertion into the genome (mostly from ERVs)

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8
Q

Long interspersed nuclear elements

A

Replicated DNA with as many as 800,000 copies per genome, 3 families (line 1, line 2, and line 3)

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9
Q

Short interspersed nuclear elements

A

Contain no protein encoding genes

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10
Q

DNA transposons

A

Can be conservative or replicative, either changes location or increases in copy number (respectively)

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11
Q

How is DNA packed into chromosomes?

A

DNA –> nucleosides –> 30nm fiber –> loops of fiber –> chromatin folding –> chromosome

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12
Q

Define epigenome

A

Heritable changes in the genome and its expression that do not involve changes in the sequence of DNA

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13
Q

How epigenomes are established

A

Modification of histone tails can alter gene transcription by tightening or loosening chromatin, or DNA methylation of cytosine to 5-methylcytosine attracts histone modification enzymes

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14
Q

How epigenome is erased

A

During meiosis and fertilization by changing methylcytosine to hydroxymethylcytosine. Maybe not all is erased though, which is still a controversial idea at the moment

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15
Q

Why is the human microbiome important to health and disease?

A

Our bodies contain a normal microbiome, which helps maintain our health in many ways, and disruption of this in any way can lead to disease

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16
Q

What is circulating cell-free DNA?

A

DNA circulating in the bloodstream from various sources (like cell lysis, tumors, a fetus, transplanted organs, etc.)

17
Q

How can ccfDNA be used in a clinical sense?

A

As an early detection tool for cancers, fetal gene testing, and monitoring transplant rejection