Honors Biology Final Study Guide nondisjunction- failure of one or more homologous pairs of chromosomes to separate during meiosis (could also occur if sister chromatids fail to separate) monosomy- genetic condition in which a cell or zygote receives only one chromosome of a particular homologous pair (ex. in humans if you only received 45 chromosomes which could also be Turner’s syndrome for a girl) trisomy- genetic condition in which a cell or zygote receives an extra chromosome of a particular homologous pair (ex. in humans if you received 47 chromosomes, that would be trisomy 21 also known as Down Syndrome, another example is Klinefelter’s syndrome in boys) polyploidy- genetic condition in which a cell or zygote has 3 or more complete sets of chromosomes, result of nondisjunction occurring in all the chromosome pairs, this would most likely result in death (ex. in humans if you received 69 chromosomes) autosome- any chromosome other than a sex chromosome (in humans 22 pairs of autosomes, 44 autosomes) karyotype- image of a cell’s chromosomes arranged by size and in homologous pairs (sex chromosomes placed last), made by blocking cells during mitosis and staining them, dye stains regions of chromosomes that are rich in base pairs adenine and thymine producing a dark band amniocentesis- technique where a needle is inserted into the amniotic sac of a pregnant woman (amniotic fluid is extracted and contains fetal cells that can be cultured in the lab), usually done in woman’s 15-16th week of pregnancy, results come back in 10-14 days, determination of gender can be made in 1-2 days (process is very accurate, little risk) chorionic villi sampling- technique where chorion tissue is extracted from the mother and a biopsy is done on it, this is done in the 10th - 12th week of pregnancy, results come back in 2 weeks or less, reliability is less than those of amniocentesis, risk of causing a miscarriage due to this procedure is 1-3% or 2-6 times greater than amniocentesis pedigree- diagram that shows the inheritance of a specific trait in a family, may be used to determine the probability of a disease being inherited by children, rules for completing a pedigree: a. place squares and circles for males and females in a family b. shade in anyone who has the trait (write in homozygous recessive alleles) c. anyone who doesn’t have the trait most have at least one dominant allele d. children must have a recessive allele if one of their parents had the trait e. shade in half of the symbols that are heterozygous because they are carriers f. it may not be possible in all cases to determine if some are homozygous dominant or heterozygous from the information given sex-linked recessive- also known as X linked, alleles found on sex chromosomes, traits are recessive, trait is far more common in males, males cannot be carriers, daughters of males who have trait are either carriers or will have the trait, if mother has trait so will any sons she has sex-linked dominant- also X linked, alleles found on sex chromosomes, traits are dominant, no carriers, daughters of a male who has the trait will also have the trait, no inheritance between father and son (sons only inherit from mothers) autosomal recessive trait- alleles found on autosomes, traits are recessive, males and females are equally likely to have trait, traits often skip a generation, children can have trait if both parents are carriers autosomal dominant trait- alleles found on autosomes, traits dominant, no carriers, males and females are equally likely to have trait, traits do not skip a generation Down Syndrome- chromosomal abnormality, also known as trisomy 21, 47th pair of chromosomes, chromosome 21, symptoms are various levels of mental retardation, lower life expectancy (although some can live past 50 years), short body, enlarged tongue, stubby fingers, the head is usually small and round, heart defects are common, they are fertile, likelihood increases as the mother’s age increases Klinefelter Syndrome- chromosomal abnormality, 47th pair of chromosomes, sex chromosomes XXY, 1 in 1,000 births, occurs in males, usually sterile because they cannot produce sperm, enlarged breast tissue, often lack secondary sexual characteristics such as facial hair, but they do have some feminine body contours, slightly lower IQ’s, treatment may involve additional male sex hormones Turner Syndrome- chromosomal abnormality, 45th pair of chromosomes, XO, 1 in 2,500 births, occurs in females, usually sterile because sex organs do not fully develop, short body and hands, stocky build, sometimes extra folds of skin on the neck, arms turn out slightly at the elbows, secondary sexual characteristics may not fully develop PKU- autosomal disorder, recessive allele on chromosome 12, 1 in 10,000 births, individuals lack enzyme that is needed for the metabolism of amino acid phenylalanine, digestion of phenylalanine leads to production of toxins that damage nerve cells in children, causes developmental disabilities, mental retardation, and eventual death, treatments include a special diet that is low in phenylalanines until the brain is fully developed (avoid milk, meats, and high-protein foods) Cystic Fibrosis- autosomal disorder, recessive allele on chromosome 7, 1 in 2,500 births, defect leads to build up of chloride ions inside the cell that draws water from fluids outside the cell, surrounding mucus becomes thick and heavy and clogs lungs, respiratory passages, digestive tract (impairs gas exchange and secretion of digestive juices), treatments include mechanical vibrations to loosen mucus, antibiotics to fight infection, management of diet, and experimental gene therapy Huntington’s Disease- autosomal disorder, dominant allele on chromosome 4, 1 in 10,000 births, symptoms do not appear until late 30’s or 40’s (allele may have already been passed on to next generation), individuals usually die within 10-20 years of initial symptoms, symptoms include deterioration of the brain’s basal ganglia, loss of muscle control, twitching movements of limbs and body, loss of memory, dementia, no cure (interesting because most fatal diseases are on recessive alleles and most dominant diseases kill before the children are born except Huntington’s) gel electrophoresis- a process by which molecules are sorted by size as they are pulled by an electric current through gel DNA fingerprinting- technique that compares the pattern of DNA bands from a suspect, produced during gel electrophoresis, with the pattern of bands from the DNA evidence, DNA fingerprinting helps identify blood donors, genetic disease, dead bodies, and determine paternity tests bands- each is composed of thousands of DNA fragments, bands that have traveled equal distances consist of fragments that are the same length, but not necessarily the same sequence restriction enzymes (uses and naming)- restriction enzymes are proteins that cut DNA sequence, they are named first by the scientific name of the bacterium, then the strain, lastly the order in which the bacterium was found, ex. EcoR2 restriction sites- (recognition sites), these sites at the 4 to 8 base pairs is where the DNA is cut by restriction enzymes restriction maps- pattern where DNA is cut and then stuck back together Southern Blotting- (hybridization), procedure in which DNA is transferred from gel to a membrane filter and hybridization with a DNA probe, x-ray film can be placed over the membrane to produce an autorad that mirrors locations of targeted DNA bands on the gel sticky ends- the sequence of DNA is cut in a zig zag form so the DNA can stick together with another hanging sequence (there are exposed nucleotide bases that can stick together) PCR processes- (amplification), technique that uses DNA polymerase to make copies of a specific section of DNA (DNA can be copied millions of times in a matter of hours, simulates DNA replication) sex-linked traits- traits whose alleles are located on sex chromosomes, in humans many more alleles are found on the X chromosome than on Y chromosome (these are also called X linked), examples are hemophilia, red-green colorblindness, Duchene muscular dystrophy, if a genetic disorder involves recessive alleles: a. heterozygous females do not express the trait, but are carries b. females will only express the trait if they are homozygous recessive c. males only receive one X chromosome (one allele); they will express the trait if they have a recessive allele d. males are more likely to be hemophiliacs or colorblind e. males inherit these alleles and traits from their mothers genotypes should include the sex chromosomes and the alleles are used as superscripts ex. XHXh, XhY ex. Carol is heterozygous for hemophilia. Her husband does not carry the allele for hemophilia. What is the probability they will have a daughter with hemophilia? A son with hemophilia? XHXh * XHY H = normal, h = hemophiliac XH Xh XH XHXH XHXh Y XHY Xh Y genotype: XHXH, XHXh, XHY, XhY phenotype: female- 100% normal, male- 50% normal, 50% hemophiliac sex-limited traits- alleles are located on autosomes, expressed in the presence of the sex hormones of one sex, but not the other sex (trait is limited to one sex), ex. milk production in female mammals, color of plumage in birds sex-influenced traits- alleles are located on autosomes, expressed in both sexes, but expressed differently, involves response to sex hormones, ex. baldness DNA fingerprinting- technique that compares the pattern of DNA bands from a suspect, produced during gel electrophoresis, with the pattern of bands from the DNA evidence, DNA fingerprinting helps identify blood donors, genetic disease, dead bodies, and determine paternity tests plasmid- small, circular piece of DNA found in bacteria (separate from the chromosome) recombinant DNA- DNA that contains fragments derived from two or more different sources selective breeding: also known as artificial selection, technique that only allows those organisms with desirable traits to mate and produce the next generation cloning- technique that produces an individual that is genetically identical to another organism (haploid nucleus extracted from the egg of a donor, diploid nucleus taken out of a cell from a donor, this nucleus is put into the egg and planted back in the egg donor’s body, since the cell is diploid it believes it is already fertilized, with a tiny electric shock the cell begins growing into an organism, offspring is an exact clone as the cell donor) transformation- process of inserting recombinant DNA into a living cell (involves a vector) gene therapy- practice of inserting functional genes to do work for nonfunctional genes, involves either replacing, manipulating, or supplementing nonfunctional genes with healthy genes transgenic organisms- organism that has been genetically engineered to contain DNA from a different species short tandem repeats- (short STR or variable VNTR), consists of simple, repetitive sequences of DNA found mainly in the intergenic regions of a chromosome, tend to differ from person to person and are often used to produce a “DNA fingerprint” Barr body- an inactive X chromosome that condenses into a compact object in the cells of female mammals during embryonic development (which of the X chromosomes becomes the Barr body occurs randomly and independently in each cell), chromosome looks like dense circle, ex. cats (genes determine color of the fur, orange, black, or white), sometimes females have the genes for both orange and black or vice verse and one is deactivated and becomes a Barr body, Calico cat = 99% of time a female because it has orange, white, and black (because of the two X chromosomes), Tortes shell cat = black and orange fur (most of the time female), remember that every cell has to go through this process, that is how you get some cats with black and orange or some with white and black and vice versa applications and objectives of the Human Genome Project- objectives: map the entire base sequence of every chromosome in the human cell, identify all the genes in the base sequence, determine what proteins the genes code fordetermine the exact role of each gene, identify the gene location and base sequence for genetic diseases, applications: diagnosis of specific genetic diseases (ex. PKU) and screen for a position to other diseases (other types of cancer), help produce drugs and proteins to treat specific genetic diseases, increases the ability to research the effects of mutations of genes, increases our understanding of evolution and taxonomic relationships, gives insight into the structure, function, and organization of DNA in chromosomes, medical benefits: improved diagnosis of disease and predisposition to disease by genetic testing, better identification of disease carriers, through genetic testing, better drugs can be designed using knowledge of protein structure rather than by trial and error, greater possibility of successfully using gene therapy to correct genetic disorders, non-medical benefits: greater knowledge of family relationships through genetic testing, advances forensic science through the analysis of DNA at crime scenes, improved knowledge of the evolutionary relationships between humans and other organisms, which will help to develop better, more accurate classification systems, ethical issues: it is unclear whether 3rd parties have rights to genetic test results, if treatment is unavailable for a disease then genetic knowledge about it may have no use- genetic tests are costly, and there is no easy answer as to who should pay for them, genetic information is hereditary so knowledge of an individual’s own genome as implications for members of their family advantages and disadvantages of transgenic plantsadvantages: disadvantages: may keep away unwanted insects such as pests may kill other insects that aren’t harmful such as Monarchs more of the plant may be able to grow superbugs may evolve and resist the plants (and superweeds) naturally produced by the plant cloning plants reduces the genetic diversity genetically modified food (issues)advantages: disadvantages: foods may becomes more nutritious presence of pesticides may be harmful extends shelf life genetically modified foods could trigger allergies crops can possibly become edible vaccines religious morals golden rice- genetically engineered rice that is inserted with beta-carotene (that gives the rice its orange glow); the betacarotene is converted to vitamin A when digested, this rice is more nutritious Bt corn- Bt corn is a bacterium that kills insects contaminating crops, this bacterium has raised concern though because it is has killed Monarch butterflies in the past, an endangered species, and now researchers are trying to alter the Bt corn so it does not kill Monarchs fitness- an organism’s ability to survive and reproduce in a particular environment gradualism- states that small evolutionary changes occur slowly and steadily over long periods of time, this process yields many transitional forms punctuated equilibrium- (Gould and Eldredge, 1972) states that a population tends to remain relatively stable for long periods of time interrupted by periods of relatively rapid evolutionary change explains gaps in the fossil record natural selection- process in which organisms with favorable variations are more likely to survive and reproduce, these variations are passed to the next generation, ex. antibiotic resistance in bacteria 1. stabilizing selection- favors intermediate phenotype, the most common, b/c they are more fit than extreme phenotypes, the least common, evolution is minor or absent, ex: weight of human infant 2. directional selection- favors extreme phenotype b/c they are more fit than other phenotypes, evolution moves in a specific direction, ex: size of human brains (larger and larger brains over time), size of horses (gaining size over time), color of Peppered Moths (light color to dark color for survival on lichens of trees) 3. disruptive selection- favors extreme phenotypes that deviate in both directions, both extreme phenotypes have higher fitness, evolves into two populations with distinct traits, ex: beak size in African finches (large and small beaks were favorable, not medium sized. over time, small and large were more popular b/c medium sized beaks were less popular and helpful variation- differences that exist between members of the same species (these are the raw material of evolution). ex: size, color, blood type inbreeding- crossing of genetically similar organisms to maintain the presence of certain desirable traits tends to increase homozygous genotypes for both desirable and undesirable traits. ex: purebred dogs are more likely to have joint deformities and blindness outbreeding- (hybridization): crossing of genetically dissimilar organisms to bring together the best of both organisms tends to increase heterozygous genotypes and vigor (health). ex: mule of liger adaptation- an inherited trait that helps an organism survive in its environment a beneficial variation. ex: structural, behavioral, physiological population- group of organisms of the same species that live in the same area analogous structures- refers to parts of two different species that are similar in function, but not in structure, ex: wings of a bird and the wings of a butterfly, (not a result of a recent common ancestor but a result of the species having evolved in similar environments does not show a close evolutionary relationship) Malthus- wrote an “Essay on the Principle of Populations”, stated that human babies were being born faster than people were dying, human population could outgrow their resources such as living space and food supply, states that factors such as war, famine, and disease help keep population in check, Darwin will apply these principles to all organisms- not all organisms born will survive and those that survive will have to compete for limited resources Lamarck- believed fossil record showed evolution has occurred and presents a theory to explain it 1. tendency toward perfection- organisms have an innate tendency to try to improve themselves 2. use and disuse- organisms could change the size and shape of their structures by either using them in new and different ways or by not using them, ex. giraffes get longer necks, four-legged reptiles become snakes 3. inheritance of acquired characteristics- traits that are changed during an organism’s lifetime can be inherited by their offspring (this theory is wrong because it only changes in DNA of gametes will be inherited by next generation) Lyell- Principles of Geography, Lyell studied geologic deposits and determined that geologic forces (erosion, glaciers) showed that earth was shaped by slow progressive changes, not catastrophic events such as floods; therefore the earth must be millions of years old Darwin- sailed on ship HMS Beagle as its naturalist for five years, collected numerous samples and fossils, in Galapagos he studied many animals such as finches, diversity of these species greatly influenced his thinking on evolution, published a book On the Origin of Species By Means of Natural Selection, his theory of evolution explains how species become extinct, how species change over time, and how evolution takes place Wallace- developed a theory of evolution nearly identical to Darwin’s, wrote a paper called “On the Tendency of Varieties to Depart Indefinitely from the Original Type”, sent a copy to Darwin, asked for some advice, and told him he was going to present his theory, this motivated Darwin to present his theory to the Linnaean Society Cuvier- studied fossils and helped develop paleontology (particularly vertebrate), key role in proving extinctions did occur, believed extinctions were a result of periodic catastrophes (revolutions), did not believe in evolution, believed species are immutable (fixing and unchanging), explains after a catastrophe species immigrate from other regions to repopulate those areas Bonnett- naturalist, discovered parthenogenesis in aphids, observed that fossilized organisms did not resemble modern organisms, believed in evolution and an evolutionary ladder, believed organisms perished in periodic, worldwide catastrophes that wiped out all life, organisms were brought back after “stepping up” a rung in the evolutionary ladder, ex. apes became humans, humans became angels Morgan- fruit flies, XX and XY, predicted crossing over occurred, won Pulitzer prize, genes are linked because they are on same chromosome and tend to be inherited together, crossover frequencies can be used to predict the distances between genes on a chromosome and can map them Bateson and Punnett- studied bees and heredity Sutton- created the chromosome theory of heredity evidence of evolution- all organisms were created relatively recently and have remained unchanged since that time, species do not go extinct evolution- process by which a species changes over time fossils- preserved remains or traces of ancient organisms homologous structures- structures found indifferent species that are similar in structure, but not necessarily similar in function, evolved from a common ancestor vestigial structures- structures that have no or a reduced function in organisms, ex. appendix and tailbone in humans, vestigial hind limbs in some pythons, wings in flightless birds such as the rhea and emu, these structures evolved from an ancestor that had a greater need fro them, difficult to explain their existence without evolution (not intelligent design) comparative biochemistry- compares the DNA and proteins of different species to see how similar they are, evolved from a common ancestor, ex: gorillas and humans are related in some way b/c similarities on the chromosome (traces of telomeres and centromeres) that lead to it originally being two separate chromosomes like that of a gorilla biogeography- studies the distribution of organisms in different parts of the world, explains why regions that are separated by large physical barriers (oceans) but have similar environments, would contain different species rather than the same species, ex. no large hooved-animals (deer) or native placental mammals are found in Australia even though it has suitable habitat, Mediterranean Europe and California have virtually no plants in common despite similar habitats, often islands (Hawaii & Galapagos) have many species which are found nowhere else (endemic), this occurred because the populations evolved differently in one region than they did in another radiometric dating- rocks or fossils may contain elements that are radioactive, the breakdown of these radioisotopes occurs at a constant rate and can therefore be used as a geologic “time clock”, the parent isotope breaks down through a series of steps to form a daughter product, scientists use the ratio of parent isotope to daughter product to determine how many half-lives have passed and then calculate how old the sample is, the age is given in years, but they are not reliable after eight half lives half-life- length of time it takes for exactly one-half of the parent atoms to decay to daughter atoms, ex. carbon-14 dating, potassium-40 dating, rubidium-87 dating, uranium-238 dating, and uranium-235 dating nonvascular plants- bryophytes, gametophyte stage is dominant, lack vascular tissue, they do NOT have true roots, stems, or leaves, reproduce using spores and NOT with seeds, require water for sexual reproduction (so the sperm can swim to the egg), tend to live on land in moist habitats, ex. mosses, liverworts, hornworts seedless vascular plants- sporophyte stage is dominant (true for all vascular plants), they have vascular tissue (tracheophytes), they DO have roots, stems, and leaves, reproduce using spores NOT seeds, require water for sexual reproduction (so the sperm can swim to the egg), ex. ferns, whisk ferns, horsetails, club mosses gymnosperms- “naked seeds”, tracheophytes, bear their seeds directly on the surfaces of the cones, sporophyte stage is dominant (true for all vascular plants), they are vascular plants, male cones contain pollen, female cones produce ovules which will become seeds if they are fertilized, WIND pollinated (meaning they don’t rely on birds or insects to pollinate the plants), ex. 1. conifers: have needle-like leaves, most are evergreens, all are cone bearing, pines, spruces, firs, cedars, and redwoods 2. cycads: palm-like plants (not palm trees), found in tropical and subtropical regions including Florida 3. gingkoes: only one species remains, considered a living fossil, doesn’t appear to have evolved much over time, diecious 4. gnetophytes: only three genera, one found in southwestern USA rhizoid- root like structure that anchors nonvascular plants capsule- small sac that contains spores in mosses (spore case of a moss plant), top part is the operculum spore- haploid reproductive cells (can germinate without being fertilized) sporangia- (plural of sporangium), spore case antheridium- male reproductive structure that produces flagellated sperm (in non-vascular plants) archegonium- female reproductive structure that produces a single egg (in non-vascular plants) frond- leaf of a fern sporophyte prothallus- gametophyte of a fern (heart-shaped) sorus- (singular, plural would be sori), cluster of sporangia (spore cases) in ferns (often found on the underside of the frond) gemmae- cuplike structures in liverworts that contain haploid cells capable of asexual reproduction xylem- vscular tissue that transports water and minerals throughout parts of a plant phloem- vascular tissue that transports dissolved sugars and starches alternation of generations- process in which plants switch between haploid and diploid stages of their life cycle sporophyte (2N) fertilization meiosis gametes (N) spores (N) germination gametophyte (N) 2N = diploid, N = haploid challenges of plants and colonizing land (evolution of plants)- aerial parts of plants prone to dessication evolved waxy, waterproof covering (cuticle), gametes and embryo exposed to environment evolved multicellular protective gametangia, air is a less supportive medium than water evolved “internal skeleton” to support plant against the pull of gravity, aerial parts of plants need source of water and minerals evolved vascular system, terrestrial environment subject to more dramatic and relatively rapid fluctuations in temperature, humidity, and wind evolved changes in life cycles and structures benefits of terrestrial life (compared to the water)- greater availability of sunlight, increased levels of CO2, initially were decreased levels of predation four kinds of nucleotides- named after their nitrogen base, a. adenine (A), b. thymine (T), c. cytosine (C), d. guanine (G), every cell has 6 billion nucleotides (3 billion pairs) leading strand- DNA strand that replicates in the direction that follows the movement of the replication fork lagging strand- DNA strand that replicates in the direction opposite the movement of the replication fork, DNA forms in fragments (Okazaki fragments, 100-200 nucleotides long) that later are connected by DNA ligase (also known as DNA polymerase) antiparallel- sugar phosphate backbone of two DNA strands that run in opposite directions histones- proteins that bind to DNA and helps fold DNA into chromatin, also creates nucleosomes, (DNA in humans would be one meter long if not folded) nucleosomes- tiny structure that may help package and fold DNA, regulates the way genes are transcribed primase (RNA polymerase)- enzyme that synthesizes RNA primer and attaches it to parent DNA strand (template) at origin of replication RNA primer- sequence of approximately ten nucleotides that are complementary to the parent DNA, RNA primer is attached at the origin of replication and allows DNA polymerase to bind to the template strand continuous and discontinuous synthesis- continuous: deals with the leading strand, discontinuous: way of lagging strand replication, DNA doesn’t replicate continuously, made by Okazaki fragments semi conservative model- describes the arrangement of the DNA strands after replication (parent/daughter, daughter/parent) purine- two nitrogen bases are larger ex. adenine, guanine pyrimidine- two nitrogen bases are smaller ex. thymine, cytosine operon- a group of genes that are expressed together because they have related functions ex. lac genes in E. coli code for three enzymes that break down lactose promoter- a region of DNA where RNA polymerase attaches (starting point for transcription) operator- region of DNA where the repressor attaches (found at the end of the promoter and before the genes) repressor- a protein that prevents RNA polymerase from attaching to the promoter (prevents transcription) regulatory gene- DNA that codes for a protein (such as a repressor) that controls the expression of other genes hox gene- a series of genes that control where tissues and organs develop in the various regions of an embryo ex. fly’s hox genes where messed with by scientists when the legs starting growing out where the antennas should be and antennas growing where the legs should be DNA- deoxyribonucleic acid, polymer, consists of two strands that create a double helix, the nitrogen bases of one strand form bonds with the nitrogen bases of the other strand, adenine always bonds with thymine, cytosine always bonds with guanine, DNA is wrapped up into tight coils to be able to fit inside the nucleus of a cell, DNA wraps around special proteins called histones to form bead-like units of DNA and protein called nucleosomes speciation: part of macroevolution, making a new species over a long period of time divergent evolution- similar populations or species evolving in different environments, process in which once-related populations evolve independently (often because of geographic isolation), two or more related species becoming more and more dissimilar, evolution in which highly distinct species were once both similar to an ancestral species, presence of homologous structures in different species is an indication of divergent evolution, ex. polar bear and brown bear, red fox and kit fox adaptive radiation- type of divergent evolution in which ancestral species develop into an array of species, each specialized to fit into a different niche, process by which a species (or small group of species) rapidly evolves into several different forms, relatively rapid evolution of many diversely adapted species from a common ancestor, ex. Darwin’s finches, Hawaiian honeycreepers