Biology Study Note: Chapter 4 Test

Genetics: The study of heredity and variation of living organisms and how genetic information is passed down from one generation to the next Somatic Cell: A plant or animal cell that forms the body of the organism; excludes reproductive cells Genome: The complete DNA sequence of an organism Sex Chromosome: An X or Y chromosome, which determines the gender of an organism Autosome: A chromosome that is not involved in determining the gender of an organism (22 pairs) Homologous Chromosome: A chromosome that contains the same sequence of genes as another chromosome Gene: A part of a chromosome that governs the expression of a trait and is passed on to offspring; it has a specific DNA sequence Allele: A different form of the same gene Karyotype: A photograph of pairs of homologous chromosomes in a cell Cell theory: -All living things are composed of one or more cells -Cells are the smallest units of living organisms -New cells come only from pre-existing cells by cell division 3 Main Stages of the Cell cycle: -Interphase: The cell carries out normal functions, grows, and makes copies of its genetic material in preparation for the next stage G1: Major period of growth; synthesizes many new molecules S: DNA is replicated (exists as chromatin (uncondensed fibres)) G2:Synthesizes more molecules -Mitosis: The cells nucleus and genetic material divide -Key activity is accurate separation of replicated DNA Prophase: -Chromatin condenses into chromosomes -Chromosomes are joined by a centromere -Nuclear membrane breaks down and the nucleolus disappears -Spindle fires are formed from the centrosomes Metaphase: -Spindle fibres guide the chromosomes to the equator -Attach to the centromere of each chromosome Anaphase: -Each centromere splits; sister chromatids separate -Spindle fibres pull the chromosomes to opposite ends of the cell Telophase: -Chromosomes revert to chromatin -Spindle fibres break down -Nuclear membrane forms around the new chromosomes, as well as a nucleolus -Cytokinesis: Involves the division of the cell cytoplasm and creation of a new cell -An indentation forms and grows, eventually pinching the cell in two (divides equally) -Daughter cells then enter G1 phase -Plant cells reproduce by forming a cell plate in the middle of a cell, then forming a new cell wall -DNA is made up of 2 long strands the form a Double Helix -Nucleotides are composed of a phosphate, a sugar, and a base Four bases: Adenine, Thymine, Cytosine, and Guanine -A-T and C-G are complimentary base pairs -A mutation is a change in DNA sequence -The complete DNA sequence is called the genome

-When DNA is replicated, each strand unwinds and serves as a template for another -Called semi-conservative because each new DNA molecule retains half of the original DNA -Humans have 46 chromosomes (23 pairs) -One from the father, and one from the mother -One pair is called the sex chromosomes; females have 2 X and males have an X and Y -Chromosomes are paired based on sharing similar characteristics -Homologous chromosomes carry genes for the same traits, but can carry different forms of the same gene (alleles) Karyotype: 1. A cell sample is collected and treated to stop all division 2. The sample is stained 3. Chromosomes are sorted and paired Gamete: A male or female reproductive cell Zygote: A cell formed by the fusion of two gametes Fertilization: In humans, the joining of male and female haploid gametes Haploid: A cell that contains half the number of chromosomes as the parent cell Diploid: A cell that contains pairs of homologous chromosomes Meiosis: The cellular process that produces gametes containing half the number of chromosomes as the parent cell Synapsis: The aligning of homologous chromosomes during prophase 1 Crossing Over: The exchange of chromosomal segments between a pair of homologous chromosomes Non-Disjunction: The failure of homologous chromosome pairs or sister chromatids to separate during meiosis Monosomy: The loss of a chromosome as a result of non-disjunction Trisomy: The gain of an extra chromosome as a result of non-disjunction -Each human gamete is haploid (23 chromosomes), and after fertilization, the zygote cell is diplod (23 PAIRS of chromosomes) Two key outcomes of Meiosis: 1. Genetic Reduction: Produces cells with half the original number of chromosomes 2. Genetic Recombination: Products have different combinations of alleles, increasing genetic variation -In meiosis 1, homologous chromosomes separate, and in meiosis 2, sister chromatids separate Meiosis 1: Prophase 1: -Homologous chromosomes line up (one from each parent) -While lined up, segments of chromosome may be exchanged -Centrosomes move to cell poles; spindle apparatus forms Metaphase 1: -Line up along the equator of the cell -Spindle fibres attach to the centromere of each homologous chromosome Anaphase 1: -Homologous chromosomes separate -A single chromosome from each homologous pair moves to each pole -CELLS BECOME HAPLOID only 23 (46 sister chromatids) instead of the previous 46 (92) Telophase 1: -Homologous chromosomes uncoil and spindle fibres disappear -Cytokinesis takes place and a new nuclear membrane forms in each cell (NOW HAPLOID) Meiosis 2: Process is the same as mitosis but as a haploid Compare and Contrast Mitosis and Meiosis: Similarities: -Both are processes by which cells divide

-Both result in daughter cells being made Differences: -Mitosis results in 2 exact diploid cell copies -Meiosis results in 4 genetically different haploid cells -In meiosis 2, the cell undergoes division as a haploid -In mitosis, the cell undergoes division as a diploid -In meiosis, homologous chromosomes undergo synapsis in Prophase I Spermatogenesis: -Takes place in testes of most male animals -Starts with a diploid cell called a spermatogonium -Reproduce by mitosis, then meiosis, turning into mature sperm -Nucleus and other molecules located at the head; mitochondria located at the middle; flagellum as tail Oogenesis: -Takes place in ovaries of most female animals -Starts with a diploid cell called an Oogonium -Reproduce my mitosis, but stop at Prophase 1 -Cytoplasm divides unequally -Forms a stable cell with many nutrients, capable of containing the zygote, and a polar body, which will disintegrate -Final stages of meiosis do not take place unless fertilized -Forms another mature cell, and a polar body -Nucleus of the egg cell fuses with that of the sperm cell to complete fertilization Multiple Births: -If 2 eggs are released and both are fertilized, fraternal twins may be born -If a zygote splits in the first few days of development, identical twins may be born Genetic variation is guaranteed in two ways in meiosis (also 2 reasons for abnormal meiosis): 1. Independent Assortment: a. Depending on how homologous chromosomes line up in metaphase 1, many combinations of chromosomes may be found in gametes (determined by 2^n) 2. Crossing Over Errors Caused By Changes in Chromosome Structure: -During crossing over, chemical bonds are broken and reformed, sometimes incorrectly -Non-Homologous pairs may also cross Error Example Deletion Cri du Chat -Deletion in chromosome 5; cry with a cat-like sound -Low birth weight; widely spaced eyes; recessed chin -Developmental/cognitive delays -NO CURE Duplication Charcot-Marie-Tooth Disease Duplication in chromosome 17 -Muscle weakness; loss of sensation in lower legs, feet, and hands -High foot arch -NO CURE Inversion FG Syndrome Inversion of the X chromosome; exclusively in males -Intellectual disabilities; delayed motor development; low muscle tone -Broad toes/thumbs -NO CURE Translocation Chronic Myelogenous Leukemia (cancer in white blood cells) -Translocation between 9 and 22; formation of abnormal gene

-Treatement: A drug that stops increased production of white blood cells Errors Caused by Changes in Chromosome Number: Caused by non-disjunction (both homologous chromosomes or sister chromatids are pulled to the same pole) Monosomy: The gamete is missing a chromosome Trisomy: The gamete has gained a chromosome Conditions #of Live Births Syndrome Characteristics Trisomy 21 1 in 800 Down Risk increases with age; intellectual disabilities; Almond-shaped eyes; flattened face; short stature Heart defects Trisomy 18 1 in 18 000 Edward Intellectual and physical disabilities; Facial abnormalities; extreme muscle tone; Early death; heart defects Trisomy 13 1 in 15 000 Patau Intellectual and physical disabilities Variety of defects in organs (heart defects); Large triangular nose; early death; cleft lip XXY XYY XXX XO (1 X only) 1 in 1 000 males Klinefelter 1 in 1 000 males Jacobs 1 in 1 500 fem. Triple X 1 in 5 000 fem. Turner Sexual immaturity; breast swelling; Produces estrogen; Testosterone injections can help No unusual symptoms; may be tall Tall and thin; menstrual irregularity (Short stature; webbed neck; underdeveloped

-Prenatal genetic testing can be used to detect errors in the number and structure of chromosomes in the fetus. Testing involves using non-invasive methods (ultrasound) and invasive methods: th Amniocentesis- A sample of amniotic fluid which contains fetal cells is taken after the 14 week of pregnancy th Chorionic villus sampling- A sample of cells from the chorion is taken after the 9 week of pregnancy How to Write a Full Karyotype: #of chromosomes _____ _____ sex chromosomes Trisomy/monosomy (if any)( )