Chapter Eleven: Genome Annotation Flashcards

1
Q

the process of determining which sequences do which tasks, key aspect of the human genome project

A

annotation

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2
Q

a reading frame uninterrupted by stop codons

A

open reading frame

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3
Q

DNA can be read in ___ reading frames

A

six (three from each strand due to codon length)

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4
Q

comparing genomes can help track ___ (the process of advantageous mutations spreading in a population while deleterious mutations are lost)

A

natural selection

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5
Q

locating ___ is a direct method of finding genes

A

transcribed regions

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6
Q

genes either encode ___ or ___

A

proteins or non-coding RNAs (ncRNAs)

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7
Q

for mRNA, RNA can be made into ___ for sequencing

A

cDNA

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8
Q

virus that carries genetic information as RNA

A

retroviruses

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9
Q

used to copy RNA into complementary DNA (cDNA)

A

reverse transcriptase

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10
Q

includes only exons from part of genome that was transcribed for translation in cells mRNA was collected from

A

cDNA library

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11
Q

___ means a single gene can produce different proteins

A

alternative splicing

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12
Q

all proteins made in an organism

A

proteome

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13
Q

part of the genome corresponding to exons

A

exome

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14
Q

the exome makes up about ___ of genome, the remainder is made up of ___

A

1.5-2%
introns, centromeres, telomeres, transposable elements, etc.

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15
Q

variation in genome size is mostly due to ___ rather than ___ number or size

A

noncoding DNA
gene

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16
Q

exome sequencing is ___ than sequencing the entire genome

A

more efficient

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17
Q

most of DNA outside of genes is ___

A

repetitive

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18
Q

repetitive DNA with no known function

A

junk DNA

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19
Q

chromosomal regions that have many more genes than expected from average gene density over entire genome

A

gene-rich regions

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20
Q

the most gene rich region in the human genome

A

major histocompatibility complex

21
Q

chromosomes regions with no identifiable genes

A

gene deserts

22
Q

segments of proteins that have specific functions

23
Q

exons often encode ___

A

protein domains

24
Q

shuffling, addition, or deletion of exons during evolution can create new ___

A

domain architectures

25
exon ___ can create new genes
shuffling
26
groups of genes closely related in sequence and function
gene families
27
the process by which gene families evolved
duplication and divergence
28
arose from the same gene in the common ancestor, usually retain the same function
orthologous genes
29
arise by duplication, often refers to members of a gene family
paralogous genes
30
blanket term for all evolutionary related sequences
homology
31
sequences that look like, but do not function as, genes
pseudogenes
32
pseudogenes rapidly accumulate ___
mutations
33
genes without homologs, young genes that recently evolved from ancestral intergenic sequences
de novo genes
34
homologous blocks of chromosomal sequence
syntenic blocks
35
the cutting and reassembling of chromosomal blocks accompanying evolutionary divergence
chromosomal rearrangements
36
the science of using computational methods to decipher biological meaning of information contained in organismal systems
bioinformatics
37
database established by the NIH in 1982, online repository of sequence data
GenBank
38
single, complete, annotated version of a species' genome, agreed upon for standard comparison
RefSeq
39
carries oxygen in the blood
hemoglobin
40
adult hemoglobin consists of ___ peptide chains
four (two alpha and two beta)
41
composition of hemoglobin ___ during development
changes
42
embryonic and fetal hemoglobins bind ___ to oxygen
more tightly
43
adult hemoglobin binds ___ to oxygen
less tightly
44
the order of hemoglobin genes on the chromosome reflects ___
timing of expression
45
controls sequential expression of genes at a locus, including goblin genes
locus control region (LCR)
46
change in amino acid sequence of alpha- or beta-globing chain, causes destruction of RBCs
hemolytic anemia
47
mutations reduce or eliminate production of one of the two global polypeptides
thalassemias
48
mutations of the ___ can lead to severe disease
LCR