Term
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Definition
| Frequency of chromosomal abnormalities |
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Term
1. Chromosome abnormalities 2. Single-gene disorders 3. Multifactorial disorders 4. Mitochondrial disease |
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Definition
| Classes of Genetic Diseases |
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Term
50% of trimester 1 spontaneous abortions 20% of trimester 2 spontaneous abortions |
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Definition
| Chromosome abnormalities that occur immediately after conception account for? (% of spontaneous abortions in trimesters 1 and 2) |
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Term
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Definition
| ______ of conceptions result in a chromosomal abnormality. |
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Term
1. Down Syndrome (Trisomy 21) 2. Klinefelter Syndrome (XXY) 3. Turner Syndrome (X) |
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Definition
| Three most frequent Chromosome abnormalities at birth: |
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Term
1. Expression of a non-functional protein (recessive) 2. Failure to express protein (recessive) 3. Altered espression of a proetin with normal function (Dominant) 4. Expression of protein with altered fxn (Dominant) |
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Definition
| Single Gene disorders may be dominant or recessive and result from: |
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Term
1/200 to 1/1000 cleft palate club foot heart defects neural tube defects pyloric stenosis |
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Definition
| Example of Congenital Malformations and frequency |
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Term
E. coli: 4.2 x 10^6 bp Human genome: 3.2 x 10^9 bp (1 whole meter!) |
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Definition
| Sizes of E.coli and human genomes: |
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Term
5' 3nd (position 5- not part of the ring) 3' end (position 3) phosphodiester linkage (positions 5-->3) gycosidic bond (position 1) |
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Definition
| 4 characteristics of DNA primary structure: |
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Term
width= 20 A Pitch (rise per one complete turn)= 34 A Rise per bp= 3.4 A One complete tun~ 10 bp B-DNA is right handed strands are antiparrallel Contains major and minor grooves |
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Definition
| Features of the DNA double helix (B type) |
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Term
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Definition
| An increase in UV absorbance is called ______ and occurs following DNA strand separation. |
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Term
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Definition
| When 50% of the DNA is separated, you have reached the ___________. |
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Term
1. Increase the GC base content 2. increase the salt concentration |
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Definition
| DNA stability increases (Tm increases) if you: |
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Term
Formaldahide Urea Acid Base (low OR high pH) |
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Definition
| DNA stability is decrease by denaturants such as: |
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Term
| Southern blotting combines agarose gel electrophoresis for size separation of DNA with methods to transfer the size-separated DNA to a filter membrane for probe hybridization. |
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Definition
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Term
1. Uracil replaces Thymine 2. 2'-hydroxyl 3. RNA is single-stranded 4. RNA has secondary and tertiary structure ("hairpin") |
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Definition
| RNA differes from DNA in 3 ways |
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Term
Genome type (Euk, Prok, or viral) Genome size Phase of Cell Cycle (Euk) |
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Definition
| DNA packing mode depends on: 3 things |
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Term
G1 prep for replication S DNA synthesis phase G2 preparation for cell division M Mitosis, cell division G0 non-dividing phase (stationary) |
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Definition
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Term
Euchromatin (transcriptionally active or competent) Heterochromatin (highly condensed, transcriptionally incompetent) |
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Definition
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Term
Constitutive Heterochromatin (permanently condensed) Facultative Heterochromatin (may decondense, becoming transcriptionally active) |
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Definition
| Two types of Heterochromatin: |
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Term
1- naked DNA (1.0) 2- "beads on a string" 10-nm chromatin fibril of necleosomes (7-10) 3-30 nm chromatin fibril composed of superhelical nucleosomes (40-60) 4- non-condensed loop 5- condensed loops 6- metaphase chromosome (8000) |
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Definition
| 6 levels of DNA folding (and packing ration) |
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Term
Nucleosome Core 146 1.75 (H2a, H2b, H3 and H4=proteins) |
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Definition
| Histone proteins in an octomer make up the _____ and there are _____ bp of DNA per ___ turns. |
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Term
Nucleosome core Histone H1 180-200 (2 turns of DNA wrapped around it) |
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Definition
| A nucleosome consists of the __________ ____ and _______ __, plus it will hold ___-___ bp of DNA. |
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Term
Acetyl group Lysine Phosphate |
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Definition
| Positive charges can be removed fromt eh histone tails by adding an ______ _____ which will loosen the DNA from the histone so that it can be transcribed. This occurs on ______ amino groups and causes loss of positive charge and interactions with DNA _________. |
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Term
1-Acetylation (gene transcription and DNA replication) 2- Phosphorylation (chromosome condensation) 3- ADP-ribosylation (DNA repair) 4- Methylation (activation or repression of gene transcription) 5- monoubiquitylation (activation and repression of gene transcription) |
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Definition
| Chomatin can be remodeled by modifying histones via 5 ways: |
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Term
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Definition
| Humans have _x more genes than bacteria, but they have _x more DNA than bacteria. |
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Term
repetative non-gene non-structural |
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Definition
| Much Human DNA is __________, ___-____, and ___-__________ (sometimes called "junk DNA") |
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Term
Telomers; GT Centromeres; AT |
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Definition
| _________ are at the ends of chromosomes and conatin __-rich repeats. ___________ join sister chromatids, and contain __-rich repeats. |
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Term
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Definition
| The spindle attachemt site for chromosome segregation is the ________. |
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Term
1- Highly repetative (mini-satellites; 5-500 bp), 1-10 x 10^6 copies in total per genome, mainly telomere and centromere. 2-Moderately repetitive, Dispersed DNA (SINES 70-300 bp long, LINES 6000-7000 bp long) 3- micro-satellites (2-6 bp long; commonly repeated up to 50x) |
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Definition
| Three classes of repetative DNA |
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Term
SINES: 70-300 bp long; more than 100,000 copies total per sequence per genome...ex is the Alu family (5-6% of the genome) LINES: 6000-7000 bp long; 20,000-50,000 copies per sequence per genome. |
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Definition
| Two types of dispersed repetitive DNA are _____ and _____. |
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Term
Retrotransposons Nonsence (stop) |
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Definition
| Pseudogenes are ___________ from mRNA. Over generations they will produce ____ codons, or cause loss of other critical signals. |
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Term
semi-conservative bidirectional |
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Definition
| DNA replication is ____-____________ and _____________. |
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Term
1- DNA synthesis (uses NTP to add nucleotide to the 3'-OH end of the growing chain releasing PPi) 2- 3'-5' exonuclease (proof-reading) 3- 5'-3' exonuclease (Pol 1, excises RNA primer from lagging strand) 4- Sliding clamp (keeps polymerase on template) |
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Definition
| DNA polymerase is a multi-subunit enzyme with several activities: (4) |
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Term
DNA Pol III (homologous to DNA pol gamma) -makes both leading and lagging strands -3'-5' exonuclease activity (proof-reads) DNA Pol I (homologous to DNA pol alpha) -degrades RNA primer (5'-->3') exonuclease activity -refills gap with DNA by "nick translation' (5'-->3') |
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Definition
| There are two distinct polymerases that participate in replication: |
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Term
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Definition
| DNA synthesis procedds in the ______ direction. |
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Term
Helicase Topoisomerase (gyrase, topoisomerase I) SSBPs (single-stranded DNA binding proteins) Primase DNA ligase |
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Definition
| The replisome consists of 5 accessory proteins |
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Term
Gyrase (a topoisomerase II) Topoisomerase I |
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Definition
| There are two topoisomerases, ______, which works by making a double stranded break in DNA, and then using an ATP to unwind DNA, while ________ works by nicking a single strand and allowing the other single strand to unwind by swiveling. |
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Term
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Definition
| SSBPs prevent _____________ formation near fork. |
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Term
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Definition
| The most abundant RNAs are machinery for protein synthesis and they are ____ and ____. |
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Term
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Definition
| The small RNAs, _____ and _____ are editing RNS. The first is part of the ____________, and is involved in pre-mRNA editing. The second causes degradration of specific mRNAs. |
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Term
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Definition
| The template strand is read in the _______ direction and RNA is made in the ______ direction. |
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Term
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Definition
| New nucleotides are always added to the _____. |
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Term
alphaalphaBetaBeta'sigmaomega two alphas (promoter binding and assist RNAP assembly) one beta (catalytic, polymerization site) one beta' (DNA binding site) sigma (identifies promoter and assists initiation) omega (unk fxn) |
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Definition
| RNAP has six subunits _______ |
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Term
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Definition
| The RNA transcription complex is assembles at __________. |
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Term
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Definition
| RNA transcription starts the the __ position on the DNA template strand. |
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Term
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Definition
| Promoters are regulatory sequences flanking the initiation sites on the __-ends of genes. |
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Term
Negative Positive 'upstream' |
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Definition
| ________ positions are 'upstream' and ________ positions are 'downstream. Promoter sequences are ________. |
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Term
-10 TATA box ("Pribnow Box") -35 Region |
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Definition
Typical bacterial promoters? |
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Term
cis-sequence elements (CSE) upstream downstream 1-Promotors, 2-proximal promoter sites, 3-enhancer and repressor elements, 4-terminators |
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Definition
| DNA contains ___-______ _______ sequences as well as genes! These lie ________ or __________ and include the following 4 elements. |
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Term
holoenzyme promoter -10 -35 pre-initiation complex (PIC) |
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Definition
| Bacterial RNAP __________ slides on DNA until sigma factor finds and binds to the ________, recognizing the ___ and ___ consensus sequences and forming the closed ___-__________ _______. |
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Term
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Definition
| When a dinucleotide is elongated to a 10 nucleotide 'primer,' you are in the __________ phase of transcription. |
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Term
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Definition
| During initiation the sigma factor dissociates and ____ takes its place, and core polymerase moves away from the ________. Initiation is now over and Elongation begins. |
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Term
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Definition
| Chain elongation is a __________-group transfer. |
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Term
1- DNA template 2- RNA primer strand with 3'-OH group 3- ribonucleoside tripphosphates (ATP, GTP, CTP, UTP) |
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Definition
| Elongation of transcription requires three things: |
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Term
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Definition
| Topoisomerase activity is required to ______ DNA ahead of transcription bubble, and ______ DNA behind bubble. |
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Term
irreversible replication transcription |
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Definition
| When a PPi is released it is hydrolyzed to 2Pi, making polymerization ____________ in both ___________ and ___________. |
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Term
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Definition
| Termination may occur spontaneously via a special _______ _______ sequences followed by weakly base-pairing __-rich sequence. Termination may also occur via ___-dependent termination. |
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Term
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Definition
| Rho is an ___-dependent, ___-dependent ________. |
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Term
rRNA hnRNA (mRNA), miRNA tRNA, 5SRNA |
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Definition
RNAP I mainly makes? RNAP II mainly makes? RNAP III mainly makes? *these are in eukaryotic cells* |
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Term
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Definition
| _-________, a potent muschroom toxin, blocks RNAP _ and ____ production. |
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Term
TBP with TAP in the TFIID complex binds promoter. TFIIA and B stabilize RFIID, select start site, recruit RNAP with the assistance of TFIIF TFIIE recruits TFIIH TFIIH (helicase) unwinds promoter, activates RNAP by phosphorylation of C-term domain (CTD) of RNAP |
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Definition
| Steps of eukaryotic initiation (4) |
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Term
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Definition
| ___ specifically recognizes the TATA box during eukaryotic initiation. |
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Term
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Definition
| Transcription factors bind proximal promoter in eukaryotic initiation and this activates ______. |
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Term
promoter promoter proximal elements |
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Definition
| The ________ determines the position of transcription initiation. ________ ________ ________ determine the frequency of transcription initiation. |
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Term
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Definition
| _____ recognizes the promoter and promoter proximal elements are recognized by ___ and ___. The first recognizes the GC islands, and the second recognizes the CAAT box. |
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Term
distant enhancers silencers |
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Definition
| Transcription of many genes above basal levels is regulated by ______ DNA elements such as _________ and _________. |
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Term
long promoter activating repressor independent |
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Definition
| Enhancers and Silencers act at ___ distances from the ________. Enhancers bind __________ TFs and Silencers bind _________ TFs. Both can be either upstream or downstream (orientation-___________). |
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Term
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Definition
hnRNA (preRNA) is made, spliced, and otherwise processed in the _______, and once all these things are done, it is ____. |
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Term
addition of the 5' cap splicing 3' polyadneylation (poly A tail) transport out of the nucleus |
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Definition
| Four processes that must occur post RNAP II transcription are? |
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Term
7-methyl G base 5'-->5' GTP attachment 2'-O-methyl on 5'-base |
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Definition
| The 5'-cap has 3 unique features. |
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Term
1- Polymerase transcribes past consensus AAUAAA polyadenylation sequence 2-Protein Factors bind and this leads to cleavage of the transcript downstream from the sequence 3- additional factors bind and A residues are added (a few hundred) |
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Definition
| Steps in Polyadenylation? (3) |
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Term
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Definition
| The __________ domain of RNAP II localizes ________ by providing a scaffold. ____ complex assists transport through nuclear pores. |
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Term
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Definition
| Spliceosomes contating ______ carry out splicing. SPlicing involves a ______ intermediate. |
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Term
1- 3' primary transcript 2-nucleophilic attack at 5' end of intron 3-lariat formation 4- cut at 3' end of intron 5- ligation of 3' end of exon 1 to 5' end of exon 2 6- intron is digested |
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Definition
| Steps in Lariat formation during splicing? (6) |
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Term
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Definition
| The consensus sequences occur at splice junctions and the branch point. 5'-splice site (splice donor)= ____; 3'-splice site (splice acceptor)= ___. The branch point (site splicing factors recognize it) nucleotide (_)~ 30 nt upstream of ______ ________. |
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Term
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Definition
| When RNA acts like an enzyme it is called a ________. |
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Term
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Definition
| ___________ splicing is a route to genetic diversity. |
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