Review for exam one The Scientific method • Scientists use the Scientific Method to test Theories. – Generate an Observation – Pose a Hypothesis – Perform Experiments – Analyze Results – Reach a Conclusion--does the date support or refute our Theory? The Scientific method • Scientists use the Scientific Method to test Theories. – Generate an Observation – Pose a Hypothesis – Perform Experiments – Analyze Results – Reach a Conclusion--does the date support or refute our Theory? Why do Experiments in Labs? • Controls! Controls! Controls! • Lab Experiments can prevent “variables” – Variable: Factor that can cause observable change and through results off. • Independent – what you vary during the experiment. Usually this will be time. • Dependant – what you measure – what will change during the experiment – Control: Subject to all experimental steps EXCEPT the experimental Factor. Animalia – development by means of an embryonic stage No cell walls. Do not undergo photosynthesis Plantae – contain a cell wall carry out photosynthesis Non-motile life stages. Fungi - contain cell wall Do NOT photosynthesize Protista – No cell walls reproduce by spores – motile Monera – the bacteria: single-cell organisms Box 6.2 (1) Box 6.2 (2) Components of a Cell Components of a Cell • Nucleus--contained within a cell by nuclear envelope. The nucleus contains DNA. • Ribosomes--these structures make protein. • Endoplasmic Reticulum--this is a membrane network composed RER--rough has ribosomes makes proteins, and SER--smooth makes lipids. • Golgi Apparatus--modifies proteins involved in secretion. • Endomembrane system--Composed of nuclear envelope, ER, Golgi, Lysosomes and Vesicles, these organelles all work together to make protein sorting and protein secretion possible. The Mitochondria • Contain their own DNA and protein-synthesizing machinery – Ribosomes, transfer RNAs, nucleotides. – Thought to have evolved from endosymbiotic bacteria. – Divide by fusion – The DNA is in the form of circular chromosomes, like bacteria – DNA replication is independent from DNA replication in the nucleus The Mitochondria Site of Cellular Respiration • This process requires oxygen. • Composed of three stages: – Glycolysis--glucose splitting, occurs in the cell. Glucose is converted to Pyruvate. – Krebs cycle--Electrons are removed--carriers are charged and CO2 is produced. This occurs in the mitochondrion. – Electron transport--electrons are transferred to oxygen. This produces H2O and ATP. Occurs in the mito. The Chloroplast • Contain their own DNA and protein-synthesizing machinery – Ribosomes, transfer RNAs, nucleotides. – Thought to have evolved from endosymbiotic bacteria. – Divide by fusion – The DNA is in the form of circular chromosomes, like bacteria – DNA replication is independent from DNA replication in the nucleus The Chloroplast • Membranes contain chlophyll and it’s associated proteins – Site of photosynthesis • Have inner & outer membranes • 3rd membrane system – Thylakoids • Stack of Thylakoids = Granum • Surrounded by Stroma – Works like mitochondria • During photosynthesis, ATP from stroma provide the energy for the production of sugar molecules Terms: • Phenotype – An organism’s physical traits • Genotype – An organism’s genetic makeup Allele • Allele: Alternate form of a gene at same position on pair of chromosomes that affect the same trait. • Dominant Allele: Capital Letter--O • Recessive Allele: lowercase letter--o • Homozygous Dominant--OO • Homozygous Recessive--oo • Heterozygous--Oo Stages of Division • Prophase--nuclear envelope breakdown, chromosome condensation, spindle formation. • Metaphase--chromosomes are lined up precisely on the metaphase plate, or middle of the cell. • Anaphase--spindle pulls sister chromatids apart. • Telophase--chromatids begin to decondense and become chromatin. Spindle disappears. • Cytokinesis--divide cell and organelles. Actin ring, or cleavage furrow splits cell. Review: Comparing Mitosis and Meiosis Mitosis Meiosis Parent cell (before chromosome duplication) Duplicated chromosome (two sister chromatids) Site of crossing over Chromosome duplication Chromosome duplication Tetrad formed by pairing of homologous chromosomes Pairing of homologous chromosomes 2n = 4 Prophase Chromosomes align at the middle of the cell Metaphase Anaphase Telophase 2n Sister chromatids separate during anaphase Daughter cells of mitosis 2n Prophase I Tetrads align at the middle of the cell Homologous chromosomes separate during anaphase I; sister chromatids remain together No further chromosomal duplication; sister chromatids separate during anaphase II Meiosis I Metaphase I Anaphase I Telophase I Daughter cells of meiosis I Haploid n=2 Meiosis II n n n n Daughter cells of meiosis II Prophase -I Replicated pairs of chromosomes line up side by side. These pairs are called Homologous-both have same gene order (gene for eye color, hair color, etc). Sister chromatid from one pair interact with a Sister chromatid from another pair. One sister is from father, one sister from mother, but they have same gene order. Prophase -I • This interaction is called Synapsis. • Synapsis results in the formation of a Tetrad (4 sisters together). • Crossing over swaps sections of homologous genes. •Meiosis I Meiosis I: Homologous chromosomes separate Prophase I Sites of crossing over Metaphase I Microtubules attached to Chromosomes Anaphase I Sister chromatids remain attached Telophase I and Cytokinesis Cleavage furrow Spindle Sister chromatids Tetrad Homologous chromosomes pair and exchange segments Centromere Tetrads line up Pairs of homologous chromosomes split up Two haploid cells form: chromosomes are still double •Meiosis II Meiosis II: Sister chromatids separate Prophase II Metaphase II Anaphase II Telophase II and Cytokinesis Sister chromatids separate Haploid daughter cells forming During another round of cell division, the sister chromatids finally separate; four haploid daughter cells result, containing single chromosomes Sex Determination • All embryos start on a neutral or "indifferent" path. The 4 week old embryo is indifferent • By 7 weeks, the SRY (sex-related) gene encoded by the short arm of the Y chromosome begins to roar! • Testis determining factor converts progesterone to testosterone Sex Determination • Indifferent embryos have two sets of ducts: • Müllerian ducts--will be come the future oviducts--thus female. • Wolfian ducts--will become the future vas deferens--thus male – dependent on testosterone for its continued development • The testes also produce an antiMüllerian hormone that promotes regression of the Müllerian ducts – without SRY, the indifferent embryo will naturally develop into a female Mutations Figure 3.6a Mutations Sex Chromosomal Disorders • Turner Syndrome – XO only one sex chromosome • Short, thick neck and stature • Do not undergo puberty, or menstruate, • no breast development • Kleinfelter Syndrome – XXY • • • • • Testis and prostate underdeveloped No facial hair Brest development Long arms and legs: big hands and feet Can be mentally retarded An XY Individual with Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome is a sex reversal condition where XY individuals look female. These individuals have the Y chromosome and functional SRY. These individuals have testis which generate AMH and testosterone. However, the genetic mutation results in a lack of the testosterone receptor. Estrogens are made in the adrenal gland which drive phenotypic development. As adults, these individuals have testes in the abdomen and lack a uterus and oviducts. DNA Replication • Each new double helix is composed of an old (parental) strand and a new (daughter) strand. • As each strand acts as a template, process is called Semi-conservative Replication. • Replication errors can occur. Cell has repair enzymes that usually fix problem. An error that persists is a mutation. • This is permanent, and alters the phenotype. The structure of RNA • Formed from 4 nucleotides, 5 carbon sugar, phosphate. • Uracil is used in RNA. – It replaces Thymine • The 5 carbon sugar has an extra oxygen. • RNA is single stranded. Central Dogma of Molecular Biology • DNA holds the code • DNA makes RNA • RNA makes Protein • DNA to DNA is called REPLICATION • DNA to RNA is called TRANSCRIPTION • RNA to Protein is called TRANSLATION Genes can lead to inherited diseases • A gene which doesn’t function on an autosomal chromosome can lead to devastating diseases • Autosomal chromosomes are 22 pairs of chromosomes which do not determine gender • Such diseases can be caused by both a dominant or a recessive trait Autosomal Recessive Disorders • Tay-Sachs Disease: – Jewish people in USA (E. Euro descent) – Not apparent at birth – 4 to 8 months • Neurological impairment evident • Gradually becomes blind and helpless • Develops uncontrollable seizures/paralyzed • Allele is on Chromosome 15 – Lack of enzyme hexosaminidase A (Hex A) • Lysosomes don’t work, build up in brain Autosomal Recessive Disorders • Cystic Fibrosis – Most common in USA (Caucasian) – 1 in 20 caucasians is a carrier – Mucus in bronchial and pancreas thick/viscous – Breathing and food digestion problems • Allele is on chromosome 7 – Cl ions can not pass through plasma membrane channels • Cl ions pass –water goes with it. No water, thick mucus Autosomal Recessive Disorders • Phenylketonuria (PKU) – Affects in in 5,000 newborns – Most common nervous system disorder • Allele is on chromosome 12 – Lack the enzyme needed for the metabolism of the amino acid phenylalanine – A build up of abnormal breakdown pathway • Phenylketone • Accumulates in urine. If diet is not checked, can lead to severe mental retardation Autosomal Dominant Disorders • • • • • Neurofibromatosis Very common genetic disorder Tan spots on skin Later tumors develop some sufferers have large head and ear and eye tumors. • Allele is on chromosome 17 – Gene controls the production of a protein called neurofibromin – This naturally stops cell growth Autosomal Dominant Disorders • • • • • Huntington Disease Leads to degeneration of brain cells Severe muscle spasms and personality disorders Attacks in middle age Allele is on chromosome 4 – Gene controls the production of a protein called huntington – Too much AA glutamine. Changes size and shape of neurons GOOD LUCK NEXT WEEK!