Human Genome Flashcards

Question

Parts of the UTR/trailing sequence

Answer 1

1. 2nd termination signal | 2. Cleavage signal (AAUAA) containing poly-A tail

Answer 2

1. Replication --> DNA duplication 2. Transcription --> RNA synthesis 3. Translation --> protein synthesis

Answer 3

1. Euchromatic portion --> 3000 Mb, transcriptionally active | 2. Constituitive heterochromatin --> 200 Mb, transcriptionally inactive

Answer 4

1. Centromeres 2. Long arm of Y chromosome 3. Short arm of acentric chromosomes (13, 14, 15, 21, 22) 4. Secondary constriction of long arm of 1, 19, 16

Answer 5

GC --> 41% | AT --> 59%

Answer 6

1. Dark bands --> low GC, 37% 2. Light bands --> hgih GC, 45% both bands seen in karyotype

Answer 7

30,000 - 35,000

Answer 8

Hybridization of CpG islands to metaphase chromosomes

Answer 9

Chromosome 1 has highest amount of euchromatin and heterochromain, amount decreases as chromosome number increases

Answer 10

1. 95.5% noncoding DNA | 2. 4.5% conserved DNA --> 3% untranslated & regulatory, 1.5% coding DNA

Answer 11

Multiple copies of genes serving as rescue genes in case original genes get damaged

Answer 12

37 genes --> 22 tRNA, 2rRNA, 13 protein coding

Answer 13

Triple stranded region, origin for replication of mitochondrial genome

Answer 14

1. All genes lack introns 2. Some coding sequences are overlapping 3. Some genes lack stop codons (added posttranscriptionally)

Answer 15

Mitochondria may have originated from symbiotic prokaryotic bacteria

Answer 16

Contains cytochrome C --> critical component in apoptosis

Answer 17

1. RNA Polymerase I --> ribosomal synthesis 2. RNA Polymerase II --> synthesis of mRNA, snRNA, microRNA 3. RNA Polymerase III --> synthesis of tRNA, rRNA 5S, misc small RNAs

Answer 18

1. large subunit (18S, 5.8S, 5S) | 2. small subunit (18S)

Answer 19

Carries amino acids during translation

Answer 20

Involved in RNA maturation, spliceosomal RNA

Answer 21

Guides site-specific base modification in rRNA & snRNA

Answer 22

1. C/D box snoRNA --> guides site-specific methylations in rRNA 2. H/ACA snoRNA --> guides site-specific pseudourylation of uridine to produce pseudouridine in rRNA

Answer 23

Antisense regulator of genes --> bind to complementary sequence in 3'-UTR to inhibit translation

Answer 24

Negative transcriptional inhibition of RNA polymerase II elongation

Answer 25

Coactivator of steroid receptors

Answer 26

Histone, ubiquitin

Answer 27

1. High degree of sequence homology | 2. Products have short conserved amino acid motifs

Answer 28

1. DEAD (Asp-Glu-Ala-Asp) | 2. WD (tryptophan-aspartate)

Answer 29

1. No significant conserved amino acid motifs | 2. Share general common structural features, general

Answer 30

1. Immunoglobulin superfamily --> immunoglobulin genes, T cell receptor genes, HLA genes 2. Globin superfamily --> alpha and beta globin, neuroglobin, myoglobin 3. G protein-coupled receptor superfamily --> mediate ligand induced signaling between extracellular and intracellular environments

Answer 31

1. Copied at the level of genomic DNA by tandem gene duplication 2, Contain all elements of a gene but have inappropriate termination codons in exons

Answer 32

a) contain sequences that have been copied recently during evolution and are located on several chromsomes b) unstable and prone to duplication

Answer 33

Nonprocessed pseudogenes that are integrated in a chromosome next to a promoter and expressed

Answer 34

New field of biological research dealing with the comparison of genomes of different species

Answer 35

1. Basic local alignment search tool | 2. Searches for sets of optimal local alignments based on a query

Answer 36

1. Expansion --> gene duplication 2. Genesis --> creation of new genome 3. Exchange 4. Deletion

Answer 37

Nucleotide substitution, insertion, deletion

Answer 38

they give the organism an advantage in natural selection

Answer 39

Natural selection against deleterious mutations

Answer 40

Prevent accumulation of mutation at important functional sites, resulting in sequence conservation

Answer 41

a() Molecular evolution caused by random genetic drift through mutations that are selectively neutral or nearly neutral. b) Describes cases in which natural selection is not strong enough to outweigh random events

Answer 42

1. Darwinian selection fixing advantageous mutations 2. Equal to molecular adaptation and adaptive molecular evolution 3. ex. people who have sickle cell anemia are less affected by malaria

Answer 43

a) substitution in DNA that alters the amino acid sequence of the coded protein b) substitution in DNA that does not alter the amino acid sequence of the coded protein

Answer 44

Higher, due to the fact that synonymous mutations change the DNA without changing the protein

Answer 45

Given 2 nucleotide sequences, we can ask how their similarities and differences arose from a common ancestor. 1. single substitution --> 1 change 1 difference 2. multiple substitution --> 2 changes 1 difference 3. coincidental substitution --> 2 changes 1 difference 4. parallel substitution --> 2 changes, no difference 5. convergent substitution --> 3 changes, no difference 6. back substitution --> 2 changes, no difference

Answer 46

Types of substitution 1. Transition --> purine for purine, pyrimidine for pyrimidine 2. Transversion --> purine for pyrimidine

Answer 47

Transitions occur 2x more frequently than transversions --> easier to replace for the same type

Answer 48

1. Based on effect --> lethal vs nonlethal 2. Based on size/position --> Point mutation (missense, nonsense, frameshift) 3. Based on substitution --> transition vs subversion

Answer 49

1. missense --> single nucleotide change causes a different amino acid to be coded 2. nonsense --> single nucleotide change causes premature stop codon 3. frameshift --> insertions or deletions that change the reading frame (not divisible by 3)