SNP-single nucleotide polymorphism-single base sites that differ among individuals, can cause disease or just mark places

in the genome where people differ. Phenotype- expression of a gene in traits or symptoms Genotype- allele combinations in an individual that causes particular traits or disorders Genetic determinism- attributing a trait entirely to a gene or genes DNA profiling- biotechnology that detects differences in # of copies of certain DNA repeats- used to r/o or establish identity Somatic cells-an non sex cell, with 23 pairs of chromosomes in humans Diploid-a cell containing 2 sets of chromosomes Haploid-a cell with one set of chromosomes Lysosome-a sac like organelle contains enzymes that degrade debris Ribosome-an organelle consisting of RNA and protein that is scaffold for protein synthesis Cytoplasm-cellular contents other than organelles Nucleus-large membrane bound region of a eukaryotic cell that houses DNA Endoplasmic reticulum-organelle consisting of a membrane tubules which protein, lipids & sugars are synthesized Induced pluripotent stem cells- somatic cells that are genetically reprogrammed to differentiate differently Apoptotic cells- A dense, eosinophilic, pyknotic cell surrounded by a thin clear space, often lying within epithelium, which is due to apoptosis (programmed cell death, is a normal component of the development -cell suicide Embryonic stem cells- cell derived in a lab culture from inner cell mass cells of very young embryo that can self- renew and differentiate as any cell type. Number of chromosomes in a somatic cell versus the ovum/spermEctoderm-outermost primary germ layer Endoderm-innermost primary germ layer of primordial embryo Mesoderm-middle primary germ layer Hutchinson-Gilford syndrome-disease caused by a single gene that encodes a protein-lamin A Segmental progeroid syndromesLamin A protein- protein, lacks 50 amino acids, shorten protein is a progerin- gets stuck in ERinstead of getting into nucleus, alters the way nuclear lamin binds to chromatin- hampers DNA so signs of aging occur. Huntingtons disease-autosomal dominate- affects both sexes, every generation, extra glutamines in the protein huntingtin cause it to obstruct proteasomes, in brain, misfolded proteins aggregate, forms masses that clog proteasomes and block processing of malformed proteins Cystic fibrosis-caused by faulty chloride ion in cell lining in lungs & pancreas, causes thick secretions, impares breathing and digestion of fats. Punnit Square outcomes- diagram used to follow parental gene contributions to offspring Heterozygote- A person possessing two different forms of a particular gene, one inherited from each parent. A heterozygote is also called a carrier. Allele-an alternate ( variant) form of a gene Incomplete dominance- a heterozygote intermediate in phenotype between either homozygote Automsomal dominant- the inheritance pattern of 1 autosomal allele causing a phenotype, which can affect males and females, doesnt skip a generation. Expressivity-degree of severity of a phenotype Penetrance- % of individuals with a genotype who has an associated phenotype Heterogeneity- the state of being heterogeneous. It is the nature of opposition, or contrariety of qualities Epistasis- a gene masking the expression of another . Mitochondrial DNA- structures within cells that convert the energy from food into a form that cells can use, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA, Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function, some genes provide instructions for making molecules called transfer RNA (tRNA) and ribosomal RNA (rRNA) Homozygous- having 2 identical alleles of a genes Homogametic- the sex with identical type of sex chromosomes, the human female XX Hemizygous-the sex that has half as many X-linked genes as the other, human male XY Heterozygous- having 2 different alleles of a gene Pseudoautosomal regions- the DNA sequences have counterparts on the X chromosome can can cross over them, pseudoautosomal gene encodes proteins. Most of the Y chromosome is the male specific region,-lies between 2 pa regions Palindromic sequences- a nucleic acid sequence (DNA or RNA) that is the same whether read 5' (five-prime) to 3' (three prime) on one strand or 5' to 3' on the complementary strand with which it forms a double helix. Since a double helix is

formed by two paired strands of nucleotides that run in opposite directions in the 5'-to-3' sense, and the nucleotides always pair in the same way (Adenine (A) with Thymine (T) for DNA, with Uracil (U) for RNA; Cytosine (C) with Guanine (G)), a (single-stranded) nucleotide sequence is said to be a palindrome if it is equal to its reverse complement. For example, the DNA sequence ACCTAGGT is palindromic because its nucleotide-by-nucleotide complement is TGGATCCA, and reversing the order of the nucleotides in the complement gives the original sequence Male specific region of the Y chromosome SRY- gene, the sex determining region of the Y, if the SRY gene is activated, the gonad develops into testis, if not, an ovary forms under the direction of other genes. XIST- an RNA gene on the X chromosome that acts as major effector of the X inactivation process Barr body- x inactivation can be used to check the sex, the nucleus of a cell of a female, during interphase has one darkstaining X chromosome called Barr body. A cell from a male has no Barr body has one X chromosome inactive X-linked recessive inheritance patterns- expressed in females if causative alleles is present in 2 copies Congenital generalized hypertrichosis-X linked dominant, produces many hair follicles Genomic imprinting- differing of the phenotype depending upon which parent transmits a particular allelle Prader-Willi syndrome- mothers genes expressed, fathers is deleted in same region, small at birth , infant difficult gaining wt, becomes obsessed w/ eating, slow metabolism, Angelman syndrome- fathers gene expresses, mothers is deleted, causes autism, mr, extended tongue, large jaw, poor muscle control Krabbe Disease-agalactosylceramide lipidosos- missing enzyme, damages nervous system, builds up metabolites, too little myelin, fatty substance coats neurons. Osteoprorosis-multi factoral causes,post menopause, thinning bones Mutations vs SNPs mutation- changes in DNA sequence that distinguish allelles arise, SNPS- single base sites that differ among individuals, can cause disease or just mark places in the genome where people differ. Mutations vs SNPs changes in the DNA Mutations in the DNA sequence can either have no effect, alter the product of a gene, or prevent the gene from functioning. In multicellular organisms mutations can be subdivided in to germ line mutations Polygenic traits- traits determined by more than one gene Empiric risk- probability that a trait will reoccur based upon its incidence in a population. Heritability an estimate of the proportion of phenotype variation in a group due to genes. Narcolepsy brain deficient in hypocretin- human ch 6- one molecule controlling sleep Heritability of IQ measurement, estimates the proportion of the phenotype variation for a particular trait that is d/t genetic differenced in a certain pop at a certain time- relies on genetic component of the variation in a trait Nicotine addiction-genowide association studies reveal gene variants that people addicted share, nicotine peaks after 10 sec of inhalation, release dopamine fades in few minutes, harm- nicotine receptors for dopamine are same receptors in lung cells and bind to carcinogens SSRIs-selective serotonion reuptake inhibitors-anti depression drugs,- prevent presynaptic neurons from admitting serotonin from synapse leaving more for post cell, offsets neurotransmitter deficit. Autism Neurexin- presynaptic protein that helps to glue together neurons at the synapse Neuroligin- a protein on the postsynaptic membrane that mediates synapse formation between neurons, alterations in genes encoding neuroligins are implicated in autism and other cognitive diseases. Adenine- one of the two purine nitrogen bases in DNA and RNA Thymine- one of the two pyrimidine bases in DNA Quanin Cytosine-one of the two pyrimidine nitrogen bases in DNA and RNA Uracil-one of the 4 types of bases in RNA, a pyrimidine Nucleotide- the building block of a nucleic acid, consisting of a phosphate group, nitrogen base, and 5 carbon sugar Nucleosome-a unit of chromatin structure Ribosome-an organelle consisting of RNA and protein that is a scaffold for protein synthesis DNA base paris- The rules of base pairing (or nucleotide pairing) are:

A with T: the purine adenine (A) always pairs with the pyrimidine thymine (T) C with G: the pyrimidine cytosine (C) always pairs with the purine guanine

Purines-a DNA base with 2 ring structure: adenine & guanine are purines Pyrimidines- s DNA base with a single- ring structure: cytosine, thymine & uracil are pyrimidines

Nitrogenous bases-a nitrogen containing base that is part of a molecule Sugar-phosphate backbone- the rails of a DNA double helix, consisting of alternating deoxyribose and phosphate groups, oriented opposite one another Histones- a protein type around which DNA entwines Meselson and Stahls experiments- carried out their experiment in 1958 to prove the semiconservative DNA replication hypothesis proposed by James Watson and Francis Crick.
Semiconservative replication means that the DNA double helix strand, on replication, produces two double-stranded DNA helices. Each one has an original DNA helix strand and one new synthesized DNA helix strand. In 1953, James Watson and Francis Crick discovered the structure of DNA. Going by the complementary structure of the base sequences of the DNA strands (cytosine base pairing with guanine base, and adenine base pairing with thymine base), they proposed that during DNA replication the old DNA strands would be used in the making of the new DNA strands, resulting in new DNA helices containing one new strand and one old strand. That is, the DNA replication would be semiconservative replication. At that time, there was no conclusive evidence of this. Matthew Meselson and Franklin Stahl set out to prove this hypothesis in 1958. They considered the semiconservative replication model as well as two other models, the conservative replication model and the dispersive replication model. In conservative DNA replication, two entirely new DNA strands would be produced. In dispersive DNA replication, the old and new DNA would be interspersed with each other along each strand.

RNA polymerase-an enzyme that adds RNA nucleotides to a growing RNA chain DNA ligase- an enzyme that can repair breaks in a strand of deoxyribonucleic acid (DNA) by synthesizing a bond between adjoining nucleotides. Under some circumstances the enzyme can join together loose ends of DNA strands, and in some cases it can repair breaks in ribonucleic acid (RNA). It serves as a catalyst. DNA polymerase-an enzyme that ads new bases to replicating DNA and corrects mismatched base pairs-seals backbone of the pieces building a new strand- okazaki fragments RNA ligasemtDNA- see mitochondrial dna rRNA- Ribosomal RNA, a molecular component of a ribosome, the cell's essential protein factory. Ribosomal RNA (rRNA) does not make proteins. It makes polypeptides (assemblies of amino acids) that go to make up proteins. This type of RNA is a structural component of the ribosomes. It does not contain a genetic message. The code for each amino acid is read and sent to transfer molecule. Locks around rna. Drags it to transfer rna. mRNA- molecule of RNA complimentary in sequence to the template strand of a gene that specifies a protein product. Messenger RNA contains genetic information. It is a copy of a portion of the DNA. It carries genetic information from the gene (DNA) out of the nucleus, into the cytoplasm of the cell where it is translated from and amino acid ro a ribosome to produce protein. tRNA-type of RNA that connects mRNA to amino acids during protein synthesis. Transfer RNA functions to transport amino acids to the ribosomes during protein synthesis. A second tRNA molecule bonds to the mRNA at the ribosome. Again, the codes must match. Specific sequence on each codone. A bond is formed between the two amino acids. 75-80 bases long, -anticodon marries up with The 3 nutclotide codon.tells it to stop- the prime end . 5 prime is always the start AUG is start. 5 to 3 transcript the process of making a copy of a gene that is an RNA molecule compliment to the strand of the DNA helix. The RNA is taken out of the nucleus and into the cytoplasm intron-part of a gene that is transcribed but is excised from the mRNA before translation into protein reverse transcription- Reverse transcription is another method of acquiring a gene. DNA is protected from mutation by the nuclear membrane. The genetic code is first transcribed onto a mRNA. The mRNA molecule is responsible for the synthesizing of proteins in the cytoplasm. With advancement of technology, scientists are able to isolate individual mRNA molecules in the cytoplasm. Then they will identify them and select the mRNA molecule that corresponds to the gene they need. The mRNA is separated in a solution. DNA nucleotides, DNA ligases, and DNA polymerase is then added to it. The nucleotides will form hydrogen bonds with the mRNA and they are joined together by the ligases. A DNA segment is thus formed. The gene can be duplicated many times by Polymerase Chain Reaction (PCR). Reverse transcription is much faster compared to cutting DNA by restriction enzymes. This is because it is very troublesome to choose the right restriction enzyme and to painfully identify the many segments of genes cut by the enzyme. On the other hand, little identification process is needed in reverse transcription. genetic code DNA coding strand mRNA transcribed strand misfolded proteins ubiquitin

chaperones- protein that binds a polypeptide and guides folding proteasomes- multiprotein structure in a cell shaped like a barrel through which misfolded proteins pass & are refolded or dismanteld Epigenetic- a layer of information placed on the gene that is a modification other than a change in DNA ssequence, such as methylation Fetal globin chain switching Differentiation of stem cells Altered chromatic remodeling for drug therapy Histone proteins- type of protein around which DNA entwines Micro RNA-21 or 22 base long RNA that binds to certain mRNAs, blocking their translation into protein Human genome encodes how many genes?Human genome 20,000 protein encoding genes Genes encode how many mRNAs? mRNAs encode how many different proteins? Lipidome Transposon- a gene or DNA segment that moves to another chromosome.
Central Dogma of Molecular Biology In molecular and cell biology, central dogma is the passage of information from DNA to RNA to protein. Here's a brief breakdown of central dogma's process: Process Replication Transcription Translation What Is Made? DNA RNA Polypeptide (protein) What Is Template? DNA DNA mRNA Important Molecules DNA polymerase, primase, helicase, DNA ligase, topoisomerase RNA polymerase Ribosome, tRNA Starts At Origin of replication (ORI) Promoter Start codon (AUG) Ends When Replication forks meet Termination sequence Stop codon (UAA, UGA, UAG)

Transcription of DNA into mRNA occurs in the nucleus. Unwinds, expose molecule to form mrna, when trancription rna mrna goes through complex, the mrna is directed to a ribosome- rrna, translation begins,, as sequence chain is formed, determines type of protein made, when finished, ribososome shaped, folded to shape of a protein then sent to where needed. Before the synthesis of a protein begins, the corresponding RNA molecule is produced by RNA transcription. One strand of the DNA double helix is used as a template by the RNA polymerase to synthesize a messenger RNA (mRNA). This mRNA migrates from the nucleus to the cytoplasm. During this step, mRNA goes through different types of maturation including one called splicing when the non-coding sequences are eliminated. The coding mRNA sequence can be described as a unit of three nucleotides called a codon.-when rna polyermase release termination site.

Translation outside of nucleus, protein uses mrna, - bridge from dna, template strand, complementary strand is coding strand of DNA, requires rna polymerase The ribosome binds to the mRNA at the start codon (AUG) that is recognized only by the initiator tRNA. The ribosome proceeds to the elongation phase of protein synthesis. During this stage, complexes, composed of an amino acid linked to tRNA, sequentially bind to the appropriate codon in mRNA by forming complementary base pairs with the tRNA anticodon. The ribosome moves from codon to codon along the mRNA. Amino acids are added one by one, translated into polypeptidic sequences dictated by DNA and represented by mRNA. At the end, a release factor binds to the stop codon, terminating translation and releasing the complete polypeptide from the ribosome. Initiation-transcription factor Elongation- rna polyermase zips open the dna

Translation of mRNA into polypeptides occurs on polysomes in the cytoplasm.Methylate is added to 5 end End up with rna synthesis with splicing after binded with ribosome- amino acid transferered into a polypeptide Starts on AUG,, UAC binds to the codon Folding hydrogen bonds are secondary structure Primary Secondary coil and fold at hydrogen bonds Tertriary- some protein complete, some other Quarternary Protein fold begins at translation Misfolding proteins are tagged with ubiquitin Escorted to a proteasome tunnel As it moves throught the tunnel- straightens and dismantles Proteasome also destroys properly folded proteins not used. Misfolded protein are results of errors Prion disease misfolded brain cells