Genes and Genome Flashcards

1
Q

What is a genome?

A

A genome is an organism complete set of DNA. Each genome contains all of the information needed to build and maintain that organism.

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2
Q

Genome size

A

vary in different organisms and does not correlate to complexity

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3
Q

How are genomes organised ?

A

chromosomes

no. of chromosomes does not nessecarily correlate to genome site.

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4
Q

elements making up a geneome ?

A

Gene control regions
introns
regions coding for functional rna
centromeres
telomeres
origins of replication
Genes

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5
Q

what is a genes

A

A sequence of nucleotides along dna that provides coded instructions for protein

genes no. dont correlate to genome size

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6
Q

What is the c value

A

total number of base pairs per haploid genome

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7
Q

typical structure of human gene

A

5-10 coding exons
promoter controls when gene is expressed
introns transcribed not translated
atg is start site and stop is stop site

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8
Q

UTR?

A

Variable from protein to protein
show variation in size
contain elements that control the translation,degradation and localisation of mRNA
offucr at both 5’ and 3’ end

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9
Q

Introns and Extrons

A

no. of introns is very variable 0 to several hundered

size is variable
some organisms have no introns
there are specific squences at 5’ to 3’ junctions which allow them to be recognised and removed by splicing

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10
Q

splicing

A

snRNP recognises sequences at 5’ and 3’ end
snRNP then loops out the intron and then 5’ cleavage and free end joined to rna to make lariat
and then 3’ is released
this uses rna ligase

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11
Q

alternative splicing

A

constitutive splicing
exon skipping
mutually exclusive exons
alternative 5’donor sites
alt 3’ donor sites

can generatte different isoforms of gene

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12
Q

RNA editing

A

Discreet changes made after RNA trancription
can be insertion,deletion or deamination

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13
Q

rna editing mechanisms

A

editosome complex anneals to rna strand and is guided to miss matched region and changes it

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14
Q

Gene editing

A

Recombination
also get programmed dna elimination

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15
Q

multigene families

A

protein has two diff genes that code for it

in mamals several copies of genes
family vary in number, how closely related the copys are and genomic locations

> 1 copy of gene means copy can be expressed similarly or diff depending on tissue

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16
Q

variation due to mutations

A

Chromosomal instability (CIN)- gains or losses of whole chromosomes, as well as invertions,deletions etc.

nucleotide level instability- mutations of single or small groups of nucleotides - not visible morphologically

17
Q

SNPs

A

natural variation- can me measured snp analysis
signpost for disease susceptibility and drug reaction

18
Q

do eukaryotes have operones

A

vary rare but still have co translation of genes.

19
Q

gene clusters

A

rDNA
globin gene family
histone genes
Immunoglobulin
tRNA

20
Q

gene expression

A

Cell identity is determined by this
robust mechanisms needed for control of this and regulation

21
Q

control of gene expression

A

modification of dna
transcriptional control
posttranscriptional
translational
posttranslational

22
Q

mitochondrial genome

A

mitochondria have own genome
codes for 35 proteins
is circular
multiple genomes in single mitochondrian
no chromatin structure
3% is non coding
inheritance is maternal
genes are transcribed in poly cistronic manner
many diseases in mtdna alteration

23
Q

choroplast genome

A

codes for 100 protein
circular
multiple in 1 chloroplast
no chromatin
operons
43%non coding

24
Q

importance of genome medically

A

diagnosis
- simple disease - 1 loci
- complex disease - multiplw loci
- different mutations in genes

treatment
is drug used appropiate for the cause of that patients probles
- dosage

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