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When did cells first originate? Prokaryotic was 3.7 Billion What are the three domains? Archaea, Eukarya, and Bacteria What is binomial nomenclature? Formal naming system for a species Name the components of a Somatic Cell? Cell membrane, nucleus, cytoplasm, organelles, mitochondria, and ribosomes What three people discovered DNA? Watson, Crick, and Rosalind Covert this DNA template strand to the complementary strand: 3' TAC CGG ATG CCA GAT CAA ATC 5' 5' ATG GCC TAC GGT CTA GTT TAG 3' How many possible codons are there? How many amino acids? 64, 20 What is natural selection? A process by which individual organisms with favorable traits are more likely to survive and reproduce than those with unfavorable traits What are the components of a nucleotide? a base, a sugar, and a phosphate group What is RNAi? Small portions of RNA that are complement to target mRNA What is an SNP? Base substitution or change Indels Insertion or deletion of a small number of nucleotides What is CD4 and CCR5? Receptors used to gain access into the host cell (HIV) What happens if you have two copies of CCR5? you are resistant to AIDS! What is Epigenetics? Inherited change in phenotype or genotype expression What is Alternative Splicing? Allows the cell to produce many versions of a protein from the same mRNA transcript What are STR's Short tandem repeats. Changes number of copies of a repeat of nucleotides Trinucleotide repeats? STR with a set of three. What is a mutation? Inherited change in genetic information. How many genomes? More than 1300 since 1993 Name three organisms that had their genomes sequenced? Drosophila Melanogastor, mus musculus, and gallus gallus. What is a genome? The complete set of genetic material of an organism. How many bases are in a human genome? 3.1 billion base pairs How many chromosomes are in a human genome? 46 Diploid, 23 haploid How many genes are in a human genome? 24,000 What is semi conservative replication? How DNA replicates, each strand acts as a template for the double helix What experiment determined semi conservative replication? Medelson and Stahl's What does helicase do? unwinds the double helix What do binding proteins do? Stabilize seperate strands What is primase? Adds short primers to template strand What is DNA polymerase? Binds nucleotides to form new strands. What is Exonuclease? Removes RNA primer and inserts bases What is ligase? Joins okizaki fragments and seals backbone What is CCL3L1? Associated with susceptibility to AIDs Name the four bases? Adenine, guanine, cytosine, and thymine Which bases are purines? guanine and adenine which are pyridimines? cytosine and thymine How is DNA complementary? G is always with C and A is always with T How is DNA anti parallel ? directionality is in two different directions What are Chargaff's rules? Rule of proportion, A=T and G=C Say A=10%, figure the rest. T=10% G=40% and C=40% How is nuclear DNA different from mtRNA? nuclear is contained in nucleus, and mtDNA located in organelles and mitochondria What are the 3 steps of translation? initiation, elongation, and termination What is non-disjunction? Failure of chromosomes to seperate during meosis. What is a CNV? Copy number Variant, number of copies a gene can lead to differences in gene expression What is proteomics? Branch of genetics that studies set of proteins encoded by a genome What are prions They encourage misfoldings in normal proteins What is gene expression? Process by which inheritable info from a gene is made into a functional gene product Components of blood? RBC's, WBC's, platelets, and plasma What are chromosome abnormalities? Alternation in number of chromosomes What is coding? Makes a protein, compromises DNA, includes exons, regulatory genes turn of and on at appropriate time. What in noncoding? Function not fully understood, formally called junk, includes introns. What happens in initiation? mRNA binds to the ribosome, translation begins at codon What happens during elongation? tRNA brings an amino acid to the ribosome, tRNA brings another amino acid and attaches it to the first, continues adding amino acids to the peptide chain. What happens during termination? Translation ends when it reaches the stop codon How does DNA condense during cell division? It condenses with the histone, which gets shorter, to form a chromatin, which condenses to become a chromosome. How is DNA duplicated through semiconservative replication? It gives one strand to each new daughter strand. Unlike the other two forms of replication which either give both or at random. What experiment was performed to determine semi conservative replication? They used heavy and light nitrogen Describe what happens to preMRNA before it becomes mature mRNA premRNA goes through every DNA goes through. Now enters preadenalation (Asite) adding adenine. It goes through transcription only. Describe gene expression in globin molecules over human development? Babies have gamma, adults have alpha. Changes because of oxygen. What are polymerase errors? First cause of mutation, during replication of the genome to get ready for cell division the polymerase enzyme inserts the wrong base. what are mutagens? Another cause of mutation where substances that cause major damage to generic material What is another cause of mutation? Radiation, x-ray, UV radiation, gamma rays. One type of technique to detect mutations? Genome sequencing What is PCR? Polymerase chain reaction (DNA copy machine) chemically makes copies of the regions we are interested in What types of abnormalities can nondisjunction lead to? Trisomy 21 What affect does maternal age have on likelihood that a zygote will have a chromosomal abnormality? 80% under the age of 35 Why is the genetic code redundant and not ambiguous? There are multiple base pairs that produce the same amino acid so it's not ambiguous because the sequence only codes for one protein not multiple. How does alternative splicing add to diversity of biological function? Because it allows the cells to produce many versions of a protein and yields different combinations of exons. What is methylation? Turns off chromosome before initiation of translation What is Acetylation? Remodels chromatin, histones letting go Enzymes involved in replication? Helicase, binding proteins, exonuclease, primase, polymerase, and ligase What are introns? The segment of DNA or RNA that does not code for proteins and interrupts the sequence of genes. What are exons? Segment of DNA/RNA molecule containing info for coding a protein sequence. What is a gene? Any DNA sequence that is transcribed into an RNA molecule What is a chromosome? A highly wound continuous molecule of DNA and the proteins wrapped around it What is the primary level of protein? Sequence of amino acids What is the secondary level of proteins? Shapes formed with regions of proteins What is the tertiary level? Shape of entire folded protein What is the Quaternary level? Structures formed by interactions of several proteins. What is a protein? Biological macromolecules, strings of amino acids, and participate in every cell process. What is DNA replication? Cells multiply by dividing, copied by semi conservative replication, the original strand is a template for the new strand, and always made in the 5'-3' direction What is RNA transcription? DNA is copied to mRNA, modified to contain only certain important information, mRNA passes through membrane and into the cytoplasm Explain RNA Ribonucleic acid, contains uracil not thymine, and single stranded. What is translation? premRNA becoming mature mRNA mature mRNA is used to direct the synthesis of a polypeptide. DNA vs. RNA DNA is double stranded, RNA is single, the type of sugar, and bases used. What is a regulatory gene? Determines whether or not genes will be expressed What is a structural gene? Determines the amino acid sequence of a protein. Describe translation mRNA binds to the ribosome, tRNA brings the amino acid, tRNA brings another and attches it to the first, this continues until it reaches a stop codon and releases a new protein What is meiosis? Cell division that halves the number of chromosomes to form haploid gametes. What is mitosis? Division of nonsex cells. What process is involved with growth and healing? Mitosis What is crossing over/recombination? It generates genetic diversity by recombining genes and gametes. Where is a gene mutation? in DNA What is a splice site mutation? Removal of an intron or exon Point mutation? change in a single base Is the daughter cell in mitosis different that the parent cell? No, its identical Is the daughter cell in meiosis different than the parent? yes What is the role of meiosis? To produce gametes How many daughter cells does meiosis have? 4 haploid How many daughter cells does mitosis have? 2 diploid What are the phases of the cell cycle? Prophase, metaphase, anaphase, telophase During which phase is DNA synthesized? interphase During which phase do cells divide? M phase Silent (synonymous) mutations SNP in a codon that does not change the amino acid Familial hypocholesterolemia bad cholesterol levels, dysfunctional LDLR gene, can be result of missense, nonsense, or splice site mutation Nonsense mutation SNP that changes a sense codon to a premature stop (Hemophelia B) Missense mutation SNP that alters one amino acid, B globin mutation. Causes sickle cell anemia What happens if there is a mutation in the promoter of a gene? Can lead to alzheimers What is a karyotype? A human made arrangement of all the chromosomes of a cell What are autosomes? Non sex chromosomes How many sex chromosomes does a male have? Females? 1x and 1 y females have 2 xs What is trisomy 13? Patau syndrome, eyes are very small, partial or complete deafness, rare to live beyond a few weeks. Aneuploidy? Alteration in chromosome number, Down syndrome, turner's, klinefelters, trisomy x. Trisomy 18? Edward syndrome, heart defects, clenching fists, developmental skills stalled Anticodon? A three base sequence on one loop of tRNA molecule that is complementary to mRNA and joins the appropriate amino acid to mRNA Apoptosis? A form of cell death that is a normal part of growth and development Chaperones? A protein that binds a polypeptide and guides folding Chromatin? DNA and its associated proteins Centromere? The largest constriction in a chromosome, located at a specific site on each one Cytoplasm? cellular contents other than organelles Enzyme? A type of protein that speeds the rate of a specific biochemical reaction Gametic cell? Sex cell Genome The complete set of genetic instructions in a cell Haploid? A cell with one set of chromosomes Diploid? A cell with two sets of chromosomes Histone? A type of protein in which DNA entwines Nonsynonymous codon? A codon that encodes a different amino acid from another codon Reading frame? The grouping of DNA base triplets encoding an amino acid sequence. Synonymous codons? DNA triplets that specify the same amino acid What kind of cells does mitosis create? Somatic What kind of cells does meosis create? gametic What phase does DNA replication occur in? S phase What happens during G1? Cell prepares for DNA synthesis When does cell growth occur? interphase what are homologous chromosomes? Identical pairs of chromosomes