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Final Bio 107 Vocab

TermDefinition
Chromosomal Theory of Inheritance The theory that chromosomes are linear sequences of genes. The unifying theory stating that inheritance patterns may be generally explained by assuming that genes are located in specific sites on chromosomes.
Thomas Hunt Morgan Studied fruit fly Found inheritance of white eyed parallel to inheritence of X chromosome Found 2 things: 1 chromosomal theory 2 Sex linked chromosomes (phenotype segregates based on sex) (reciprocal cross gives different results.
Wild Type The genotype or phenotype that is found in nature or in the standard laboratory stock for a given organism. The phenotype of a particular organism when first seen in nature.
Mutant An organism or cell carrying a mutation. An alternative phenotype to the wild-type; the phenotype produced by a non-wildtype allele.
Sex Chromosomes A chromosome whose presence or absence is correlated with the sex of the bearer; a chromosome that plays a role in sex determination. Heteromorphic chromosomes whose distribution in a zygote determines the sex of the organism
Sex-linked Gene A gene located on a sex chromosome, usually the X-chromosome.
Hemizygous having only a single copy of a gene instead of the customary 2 copies
XY Mode Found in all humans XX= Female XY= Male
XO Mode Animals that have no Y Chromosome XX= Female X = Male Found in insects
ZW Mode Found in insects ZW= Female (only one to have change in chromosome ZZ= Male
Haplo-diploid Mode No set chromosomes (Found in bees and ants) Diploid (32)= Female Haploid (16)= Male
Temperature Dependent Mode Temperature-dependent sex determination (TSD) is a type of environmental sex determination in which the temperatures experienced during embryonic development determine the sex of the offspring
Barr Body A densely staining mass that represents an inactivated X chromosome. Heterochromatic body found in the nuclei of normal females but absent in the nuclei of normal males.
Non-disjunction The failure of a pair of homologous chromosomes to separate properly during meiosis. The failure of homologues or sister chromatids to separate properly to opposite poles, that is two chromosomes or chromatids go to one pole and none to the other.
Aneuploidy The condition of a cell or of an organism that has additions or deletions of a small number of whole chromosomes from the expected balanced diploid number of chromosomes.
Trisomy 1 too many chromosomes (47)
Monosomy 1 too few chromosomes (45)
Polyploidy All chromosomes are present but in the wrong order. (lethal for humans)
Down Syndrome An abnormal human phenotype, including mental retardation, due to a trisomy of chromosome 2l; more common in babies born to older mothers.
Klinefelter Syndrome An abnormal human male phenotype involving an extra X chromosome (XXY).
Turner Syndrome an abnormal congenital condition resulting from a defect on or absence of the second sex chromosome, characterized by retarded growth of the gonads.
Deletion Loss of a DNA (chromosome) segment from a chromosome. Deletions are recognized genetically by: absence of reverse mutation
Duplication More than one copy of a particular chromosomal segment in a chromosome set. Duplications supply genetic material capable of evolving new functions.
Inversion A chromosomal mutation involving the removal of a chromosome segment, its rotation through l80 degrees, and its reinsertion in the same location. The replacement of a section of a chromosome in the reverse orientation.
Translocation a chromosomal rearrangement in which a segment of genetic material from one chromosome becomes heritably linked to another chromosome.
Cri Du Chat Syndrome is a genetic condition where your baby is born with a deletion on the short arm of chromosome 5.
Double Helix (16) The normal structural configuration of DNA consisting of two helices winding about the same axis. The structure of DNA first proposed by Watson and Crick with two interlocking helices joined by hydrogen bonds between paired bases.
Frederick Griffith Worked with Streptococcus phenomenon-> 2 strains-> 1 caused disease/1 did not Used mouse and streptococcus (Rough did not cause disease/ smooth did) Found that the virus has to be a living bacteria and have a transforming principle 2 cause disease
Transforming Principle DNA that is transferred from one individual to another in genetic transformation
Avery, MacLeod, and McCarty Used streptococcus pneumonia and mouse Found transforming principle is DNA. Instead of heat they used the breakdown of biological molecules.
Bacteriophage A virus that infects bacteria.
Franklin and Wilkins Conducted critical experiments resulting in the photograph that allowed the scientists to see the double helix in a DNA
X-ray Crystallography A technique, using X rays, to determine the atomic structure of molecules that have been crystallized. A technique for deducing molecular structure by aiming a beam of X rays at a crystal of the test compound and measuring the scatter of rays.
Antiparallel A term used to describe the opposite orientations of the two strands of a DNA double helix; the 5' end of one strand aligns with the 3' end of the other strand.
Purine A type of nitrogen base; the purine bases in DNA and RNA are adenine and guanine.
Pyrimidine Nitrogenous bases of which thymine is found in DNA; uridine in RNA; and cytosine in both. Characterized by a 6-membered ring made up of C and N atoms.
Adenine A purine base that pairs with thymine in the DNA double helix. See purines.
Thymine A pyrimidine base that pairs with adenine.
Guanine A purine base that pairs with cytosine. See purines.
Cytosine A pyrimidine base that pairs with guanine. See pyrimidine.
Complementary Base Pairing The standard arrangement of bases in nucleotides in relation to their opposite pairing, such as thymine being paired with adenine and cytosine paired with guanine.
Conservative Model A disproved model of DNA synthesis suggesting that one-half of the daughter DNA molecules should have both strands composed of newly polymerized nucleotides
Semi Conservative Model Watson and Crick’s semiconservative model of replication predicts that when a double helix replicates, each daughter molecule will have one old strand (derived or “conserved” from the parent molecule) and one newly made strand. (S phase)
Dispersive Model The act or process of duplicating or reproducing something.
Melson and Stahl Used E coli. Grew and extracted DNA Proved Semi-conservative DNA replication
Origin of Replication The point of specific sequence at which DNA replication is initiated. Protein unwinds DNA
Replication Bubble the process of duplicating or reproducing, as replication of an exact copy of a polynucleotide strand of DNA or RNA
Replication Fork The point at which the two strands of DNA are separated to allow replication of each strand.
Leading Strand Strand of DNA being replicated continuously. In DNA replication, the strand that is made in the 5' to 3' direction by continuous polymerization at the 3' growing tip. See also lagging strand.
Lagging Strand In DNA replication, the strand that is synthesized apparently in the 3' to 5' direction, but actually in the 5' to 3' direction by ligating short fragments synthesized individually. Strand of DNA being replicated discontinuously. See also leading strand.
Okazaki Fragments Segment of newly replicated DNA produced during discontinuous DNA replication.
RNA Primer A short strand of RNA that is synthesized along single-stranded DNA during replication, initiating DNA polymerase-catalyzed synthesis of the complementary strand.
Helicase A protein that unwinds DNA at replication forks.
Single Stranded Binding Proteins protect the single-stranded DNA from being digested by nucleases, and to remove secondary structure from the DNA to allow other enzymes to function effectively upon it.
Topoisomerase Enzymes of two types that can remove (or create) supercoiling in duplex DNA by creating transitory breaks in one (type I) or both (type II) strands of the sugar-phosphate backbone. See topoisomer
Primase An enzyme that creates an RNA primer for initiation of DNA replication.
DNA Polymerase III primary enzyme complex involved in prokaryotic DNA replication.
DNA Polymerase I DNA polymerase I (pol I) processes RNA primers during lagging-strand synthesis and fills small gaps during DNA repair reactions
DNA Ligase An enzyme that closes nicks or discontinuities in one strand of double-stranded DNA by creating an ester bond between adjacent 3' OH and 5' PO4 ends on the same strand.
Telomeres highly compacted DNA with no information. Protects the tips of chromosomes. Function: 1) protection 2) Kills Viruses
Telomerase keeps chromosome length by adding telomeres repeatedly
Transcription (17) DNA directed synthesis of RNA RNA made off of DNA Template
Translation The process of protein synthesis whereby the primary structure of the protein is determined by the nucleotide sequence in mRNA. The ribosome-mediated production of a polypeptide amino acid sequence is derived from the codon sequence of an mRNA molecule.
Ribosome a tiny, somewhat mitten-shaped organelle occurring in great numbers in the cell cytoplasm either freely, in small clusters, or attached to the outer surfaces of endoplasmic reticula, and functioning as the site of protein manufacture.
Messenger RNA a single-stranded molecule of RNA that is synthesized in the nucleus from a DNA template and then enters the cytoplasm, where its genetic code specifies the amino acid sequence for protein synthesis. Abbreviation: mRNA
RNA Processing The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' polyadenylation, and RNA splicing, which occur in the cell nucleus before the RNA is translated.[2]
Central Dogma coding information on each chain genetic code -> redundant -> 3 letter codes (codons) 64 total codons -> 20 naturally occurring amino acids
Amino Acids The basic building block of proteins (or polypeptides). Containing a basic amino (NH2) group, an acidic carboxyl (COOH) group and a side chain (R - of a number of different kinds) attached to an alpha carbon atom.
Codon A section of DNA (three nucleotide pairs in length) or RNA (three nucleotides in length) that codes for a single amino acid. A sequence of three RNA or DNA nucleotides that specifies (codes for) either an amino acid or the termination of translation.
Template Strand The DNA strand that provides the pattern, or template for ordering by complementary base pairing the sequence of nucleotides in an RNA transcript
Genetic Code linear sequences of three nucleotides (triplets) that specify amino acids or termination (nonsense) codons during the process of translation at the ribosome. The correspondence between nucleotide triplets in DNA and amino acids in protein.
RNA Polymerase An enzyme that catalyzes the synthesis of an RNA strand from a DNA template. The enzyme that polymerizes RNA by using DNA as a template. It can also act as a primase initiating DNA replication. RNA Transcriber
Uracil A pyrimidine base that appears in RNA in place of thymine found in DNA. See pyrimidine.
Promoter A regulatory region a short distance upstream from the 5' end of a transcription start site that acts as the binding site for RNA polymerase. A region of DNA to which RNA polymerase binds in order to initiate transcription.
Transcription Factors A protein that binds to a cis-regulatory element (eg. an enhancer, a TATA box) and thereby, directly or indirectly, affects the initiation of transcription. Eukaryotic proteins that aid RNA polymerase to recognize promoters.
Transcription Initiation Complex The completed assembly of transcription factors and RNA polymerase bound to a promoter
5' gap A modified form of guanine nucleotide added onto the 5' end of a pre mRNA molecule
Poly A Tail The poly-A tail is a long chain of adenine nucleotides that is added to a messenger RNA (mRNA) molecule during RNA processing to increase the stability of the molecule.
Introns A DNA segment of largely unknown function within a gene that specifically interupts the coding (exon) sequences of that gene. Introns are transcribed as part of the normal gene primary transcript, but intron sequences are not found in the functional mRNA.
Exons A region of a gene that is present in the final functional transcript (mRNA) from that gene. Any non-intron section of the coding sequence of a gene; together the exons constitute the mRNA and are translated into protein.
Transfer RNA Small RNA molecules that carry amino acids to the ribosome for polymerization into a polypeptide. During translation the amino acid is inserted into the growing polypeptide chain when the anticodon of the tRNA pairs with a codon on the mRNA
Anticodon A nucleotide triplet in a tRNA molecule that aligns with a particular codon in mRNA under the influence of the ribosome, so that the amino acid carried by the tRNA is added to a growing protein chain.
Aminoacyl tRNA synthetase an enzyme that joins each amino acid to the appropriate tRNA
Ribosomal RNA a type of RNA, distinguished by its length and abundance, functioning in protein synthesis as a component of ribosomes. Abbreviation: rRNA
Peptidyl Site The site on the ribosome occupied by the peptidyl- tRNA just before peptide bond formation.
Aminoacyl Site the site on a ribosome to which the incoming aminoacyl-tRNA is bound during protein synthesis.
Start Codon (AUG) a codon that starts the synthesis of a protein molecule.
Release Factor Proteins in prokaryotes responsible for termination of translation and release of the newly synthesized polypeptide when a nonsense codon appears in the A site of the ribosome. Replaced by eRF in eukaryotes.
Mutation 1) The process producing a gene or a chromosome differing from the wild-type. 2) The gene or chromosome that results from such a process.
Point Mutation A mutation that can be mapped to one specific site within a locus. A small mutation that consists of the replacement (transition or transversion); addition; or deletion ( frameshift) of one or a few bases.
Missense Mutation mutations that changes a codon for one amino acid into a codon for a different amino acid.
Nonsense Mutation A mutation that alters a gene so as to produce a truncated product.
Frameshift Mutation The insertion or deletion of a nucleotide pair or pairs, causing a disruption of the translational reading frame.
Mutagen An agent that is capable of increasing the mutation rate.
Gene A basic unit of hereditary material; an ordered sequence of nucleotide bases that encodes a product. The gene includes, however, regions preceding and following the coding region (5' UTR and 3' UTR) as well as intervening sequences.
Hershey-Chase Worked with E coli and bacterial phage. Used radioactive sulfer and phosphorous Proved DNA was hereditary material
Structure of DNA Double Helix Anti-parallel strands Hydrogen bonds hold helixes together Purine (double ring A & G) always binds to pyrimidine (single ring T & C) A hydrogen bond C/ T hydrogen bond A
Watson and Crick Found DNA to be double stranded.
Rosalind Franklin Xray crystallographer. Deduced DNA had uniform diameter, repeating units and higher order structures.
Erwin Chargoff Saw polar ratio of nucleotides using chromotography to see DNA in living things. Found- Purines always equal pyratins when combining cytosine guanine adenine and thymine (Cytosine = guanine) (adenine = thymine)
Cytosine = Guanine
Adenine= Thymine
Structure of nucleotides 3 parts: 1) sugar ring 2) Bone ring 3) 1-3 phosphate groups Strands run in opposite directions (Anti parallel)
The central dogma of genetics serves as information flow steps: DNA (storage) self replicating cell RNA Protein Phenotype
Semi conservative DNA replication Cell goes in to S phase of cell cycle Protein unwinds DNA (Origin of Replication)
Replication Bubble entire chromosome unwinds in small regions of bubbles
Replication Fork every bubble has 2 forks -> Move DNA strands -> generates DNA in 4 places
Helicase (Part of the 7 proteins involved in semi conservative DNA Replication) Unwinds DNA in DNA Replication
Single Stranded Binding Protein (Part of the 7 proteins involved in semi conservative DNA Replication) Stabilizes DNA (prevents the DNA from zipping back up
DNA Gyrase (Part of the 7 proteins involved in semi conservative DNA Replication) Relieves tension in super coiling -> makes cut in DNA
Primase (Part of the 7 proteins involved in semi conservative DNA Replication) puts RNA on chromosome (RNA Primer) -> adds nucleotides -> primes DNA synthesis -> adds Duplex
DNA Polymerase III (Part of the 7 proteins involved in semi conservative DNA Replication) Copies chromosome from complementary base pairing
DNA Polymerase I (Part of the 7 proteins involved in semi conservative DNA Replication) removes RNA primers and replaces gap with DNA
DNA Ligase (Part of the 7 proteins involved in semi conservative DNA Replication) Finds holes in DNA and puts sugar into them. It is the genetic engineer
Termination and Elongation steps 1) Initiation 2) Elongation 3) Termination
Reading Frame Ribosome starts translation -> start codon sets reading frame -> AUG
In complementary base pairing, RNA is binded with _______ instead of with Thymine Uracil
Coding Genes made of transcribed Proteins and RNA Molecules.
Differences of DNA/RNA 1) RNA is single stranded/ DNA is double 2) RNA contains Uracil/ DNA contains thymine 3) RNA has a carboxyl group/ DNA has a hydrogen group (No Oxygen)
Transcription Bubble contains 2 strands: 1) coding strand 2) template strand
Coding Strand Contains information
Template strand complement-> gets copied in RNA Polymerase
Initiation (Transcription) series of recognition and building events between promoter and RNA polymerase. Transcription factors assist. RNA polymerase binds with promoter. Polymerase unwinds in DNA
Elongation (Transcription) RNA gets longer. RNA Polymerase moves down DNA strand reading template and ignoring the coding strand. Polymerase reads the template strand and incorporates RNA nucleotides via complementary base pairing -> 5' to 3'
Termination (Transcription)(Prokaryotic) 1) Hair pin loop-> Secondary structure -> coded in DNA -> when its transcribed into RNA the stem loop structure forms and pulls RNA from Polymerase (Dissociation)
Termination (Transcription) 2nd structure (Prokaryotic) 2) Rhodependent -> protein that binds to RNA as transcription starts. Rho moves down RNA until hair and pin loop forms and binds there in RNA
Termination 3rd structure (Eukaryotic) Cleavage signal -> nucleotide sequence coded in DNA Translated into mRNA Enzyme binds and cuts RNA RNA polymerase disociates (poly A tail added when cut happens
Post Transcriptional Processing Events (Eukaryotes only)(mRNA only) 1) Addition of 5' cap (methylated, guanine) Stabilizes RNA Transports to Cytoplasm, Ribosomal recognition through trnaslation 2) Addition of Poly-A-Tail (Addition of 3' end)stabilizes mRNA (prevents degradation) Recognition of ribosome
Post Transcriptional Processing Events (CONTD) 3) Intron Splicing-> Intersperse DNA coding is removed. Exons are linked together
Translation is about: 1) Ribosome-> contain a) DNA b) Proteins 2) mRNA-> carries information 3) tRNA-> a) Reads genetic code b) brings in correct amino acid 4) Amino Acids
Translation 1) reads genetic code 2) Brings in amino acid 3) mRNA 4) Named Complementary Base pairing
Transfer RNA (Clover leaf structure) 1) Anticodon- reads genetic code 2) Amino Acid attachment sight Amino Acid tRNA synthase (20 different types ) (attaches correct amino acid to correct tRNA
Ribosome Composed of 2 subunits -> large and small
A site (Ribosome) (Amino Acyl) Holds transfer RNA with new Amino Acids
P site (Ribosomal) (Peptidyl) Holds transfer RNA with entire protein attached
E site (Ribosomal) (Exit Site) holds transfer RNA that just gave up a peptide
Initiation (Translation) Recognition and binding events 1) small subunit of ribosome binds with 5' cap of mRNA 2) small subunit "Scans" mRNA for start codon 3) First tRNA binds with methonine 4) Long subunit of ribosomes bind -> initiation complex
Elongation (Translation) 1) Second tRNA binds in A site 2) Peptidyl transferase-> transfers amino acids from P site to A site using tRNA 3) Translation-> Moves through ribosome 1 codon 4) Empty tRNA is ejected and then the cycle repeats until stop codon is reached
Termination (Translation) 1) Stop codon is in A site (NO tRNA) 2) Ribosome pauses -> stops translation 3) protein-> release factor binds to stop codon 4) Cuts protein away from tRNA in P site 5) Dissociation-> Everything seperates
Mutations Any change that occurs in DNA. Smallest unit of mutations is nucleotide
Substitution Mutation one nucleotide exchanged for another
Insertion/Deletion Mutation Nucleotide inserted or removed
Frameshift Changes every codon destroying the information
Gene A region of DNA whose final product is either a protein or RNA molecule (packet of information coded into protein or RNA molecule
Created by: zselder
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