eukaryotic gene structure Flashcards

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1
Q

what is a gene?

A

a segment of DNA containing instructions for making a specific molecule
product may be a protein product or a non coding RNA molecule

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2
Q

what are examples of ncRNA?

A

transfer RNA

ribosomal RNA

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3
Q

what are alleles?

A

alternative forms of the same gene

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4
Q

what is a structural gene?

A

code for proteins that perform a wide range of functions, including structural proteins and enzymes

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5
Q

what is a regulatory gene?

A

code for proteins or RNA that affect transcription or translation of target genes, either positively negatively

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6
Q

what are the distal enhancer elements?

A

short sequences similar to promoter regions
cis acting
activators bind to this site

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7
Q

why are distal enhancer elements required?

A

for maximal gene expression

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8
Q

what does the proximal control elements consist of?

A

GC box

CAAT box

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9
Q

what are the proximal control elements?

A

distinct pattern of sequences
cis acting
binding sites for transcription factors

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10
Q

why are proximal control elements important?

A

for transcription regulation

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11
Q

what is the core promoter?

A

binding site for TATA binding protein and association factor
recruitment of RNA polymerase
determines transcription start site
indicates direction of transcription and which strand is read

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12
Q

what are SNP’s?

A

single nucleotide polymorphisms

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13
Q

what is an anonymous SNP?

A

has no effect on gene function

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14
Q

what is a non-coding SNP?

A

outside of the gene

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15
Q

types of coding SNP’s

A

synonymous SNP’s, encode for the same amino acid as original
non-synonymous SNP, change amino acid sequence

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16
Q

what are CNV’s?

A

copy number variations

common in repetitive sequences

17
Q

what is a mutation?

A

a change in DNA sequence or rearrangement of genetic material

18
Q

what are point mutations?

A

substitution of a single base

19
Q

what is a silent point mutation?

A

has no effect on the protein sequence

20
Q

what is a missense point mutation?

A

results in amino acid substitution

21
Q

what is a nonsense point mutation?

A

substitutes a stop codon for an amino acid

22
Q

what is a frameshift mutation?

A

insertion or deletion of one or more bases

23
Q

what is an operon?

A

a cluster of genes with related function under control of a single promoter