Chapter Eleven: Genome Annotation

Question 1

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

Answer 1

annotation

Question 2

a reading frame uninterrupted by stop codons

Answer 2

open reading frame

Question 3

DNA can be read in ___ reading frames

Answer 3

six (three from each strand due to codon length)

Question 4

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

Answer 4

natural selection

Question 5

locating ___ is a direct method of finding genes

Answer 5

transcribed regions

Question 6

genes either encode ___ or ___

Answer 6

proteins or non-coding RNAs (ncRNAs)

Question 7

for mRNA, RNA can be made into ___ for sequencing

Answer 7

cDNA

Question 8

virus that carries genetic information as RNA

Answer 8

retroviruses

Question 9

used to copy RNA into complementary DNA (cDNA)

Answer 9

reverse transcriptase

Question 10

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

Answer 10

cDNA library

Question 11

___ means a single gene can produce different proteins

Answer 11

alternative splicing

Question 12

all proteins made in an organism

Answer 12

proteome

Question 13

part of the genome corresponding to exons

Answer 13

exome

Question 14

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

Answer 14

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

Question 15

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

Answer 15

noncoding DNA
gene

Question 16

exome sequencing is ___ than sequencing the entire genome

Answer 16

more efficient

Question 17

most of DNA outside of genes is ___

Answer 17

repetitive

Question 18

repetitive DNA with no known function

Answer 18

junk DNA

Question 19

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

Answer 19

gene-rich regions

Question 20

the most gene rich region in the human genome

Answer 20

major histocompatibility complex

Question 21

chromosomes regions with no identifiable genes

Answer 21

gene deserts

Question 22

segments of proteins that have specific functions

Answer 22

domains

Question 23

exons often encode ___

Answer 23

protein domains

Question 24

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

Answer 24

domain architectures

Question 25

exon ___ can create new genes

Answer 25

shuffling

Question 26

groups of genes closely related in sequence and function

Answer 26

gene families

Question 27

the process by which gene families evolved

Answer 27

duplication and divergence

Question 28

arose from the same gene in the common ancestor, usually retain the same function

Answer 28

orthologous genes

Question 29

arise by duplication, often refers to members of a gene family

Answer 29

paralogous genes

Question 30

blanket term for all evolutionary related sequences

Answer 30

homology

Question 31

sequences that look like, but do not function as, genes

Answer 31

pseudogenes

Question 32

pseudogenes rapidly accumulate ___

Answer 32

mutations

Question 33

genes without homologs, young genes that recently evolved from ancestral intergenic sequences

Answer 33

de novo genes

Question 34

homologous blocks of chromosomal sequence

Answer 34

syntenic blocks

Question 35

the cutting and reassembling of chromosomal blocks accompanying evolutionary divergence

Answer 35

chromosomal rearrangements

Question 36

the science of using computational methods to decipher biological meaning of information contained in organismal systems

Answer 36

bioinformatics

Question 37

database established by the NIH in 1982, online repository of sequence data

Answer 37

GenBank

Question 38

single, complete, annotated version of a species’ genome, agreed upon for standard comparison

Answer 38

RefSeq

Question 39

carries oxygen in the blood

Answer 39

hemoglobin

Question 40

adult hemoglobin consists of ___ peptide chains

Answer 40

four (two alpha and two beta)

Question 41

composition of hemoglobin ___ during development

Answer 41

changes

Question 42

embryonic and fetal hemoglobins bind ___ to oxygen

Answer 42

more tightly

Question 43

adult hemoglobin binds ___ to oxygen

Answer 43

less tightly

Question 44

the order of hemoglobin genes on the chromosome reflects ___

Answer 44

timing of expression

Question 45

controls sequential expression of genes at a locus, including goblin genes

Answer 45

locus control region (LCR)

Question 46

change in amino acid sequence of alpha- or beta-globing chain, causes destruction of RBCs

Answer 46

hemolytic anemia

Question 47

mutations reduce or eliminate production of one of the two global polypeptides

Answer 47

thalassemias

Question 48

mutations of the ___ can lead to severe disease

Answer 48

LCR