MEIOSIS & Genetic Variation Goal: Divide up chromosomes & cytoplasm to sex cells so that when they unite the zygote has the correct # of chromosomes. • Only in eukaryotic cells • Only is gametes 2 Cell Divisions (Meiosis I & II) 1 Duplication of chromosomes • If Meiosis did not occur the chromosome # in each new generation would double…. The offspring would die. Organisms that reproduce sexually are made up of two different types of cells. 1. Somatic Cells – – – – “body” cells “Normal” # of chromosomes (46 for humans) Diploid # (the symbol is 2n). Humans have 23 pairs of chromosomes for a total of 46 chromosomes. Diploid #: 46 2. Gametes – “sex” cells (sperm & eggs) – ½ the normal number of chromosomes – Haploid # (the symbol is n) – Humans: n = 23 (23 pairs of chromosomes) Making Gametes • Meiosis in males = spermatogenesis = make sperm in testes • Meiosis in females = oogenesis = make ova in ovaries Ovum+ Sperm Zygote (fertilized egg) n=23 egg Sperm n = 23 2n=46 zygote Spermatogenesis Secondary Spermatocyte n=23 human sex cell 2n=46 sperm n=23 Primary Spermatocyte n=23 Secondary Spermatocyte haploid (n) n=23 diploid (2n) n=23 4 sperm cells are produced from each primary spermatocyte. meiosis I n=23 meiosis II Oogenesis *** The polar bodies die… only one ovum (egg) is produced from each primary oocyte. Homologous Chromosomes 2n = 46 n = 23 … pairs of chromosomes 1 set from mom; 1 set from dad Homologous Chromosomes = Matching pairs of chromosomes Locus: position of a gene Paternal eye color locus hair color locus Maternal eye color locus hair color locus Humans have 23 Sets of Homologous Chromosomes Homologue Autosomes Chromosomes # 1 – 22; code for most traits Homologue Sex Chromosomes (Pair 23) XY (male) XX (female) 23 Homologous Chromosomes Homologous Chromosomes Tetrad = homologous pairs when they line up and touch consists of 4 chromatids eye color locus eye color locus hair color locus hair color locus Paternal Maternal Stages of Meiosis 2 cell divisions with only 1 duplication of chromosomes. Interphase I • Similar to mitosis interphase. • Chromosomes replicate (S phase). • Each duplicated chromosome consist of two identical sister chromatids attached at their centromeres. • Centriole pairs also replicate. nucleus nuclear membrane nucleolus Meiosis I • Cell division that reduces the chromosome number by one-half (2n n) • Stages: a. prophase I b. metaphase I c. anaphase I d. telophase I Prophase I • • • • Longest; most complex phase. 90% of meiosis Chromosomes condense. Synapsis occurs: homologous chromosomes come together to form a tetrad. • Tetrad is two duplicated chromosomes (4 chromatids) • CROSSING OVER occurs! Also: Nuclear membrane disappears, spindle fibers form, etc. Prophase I - Synapsis Homologous chromosomes sister chromatids Tetrad sister chromatids Prophase I : “Crossing Over” • Segments of nonsister chromatids break and reattach to the adjacent chromatid. • RESULTS IN GENETIC RECOMBINATION! (New mixture of genetic material; Creates diversity in gene pool) Crossing Over Humans: 1 – 3 crossover events per chromosome pair in meiosis nonsister chromatids chiasmata: site of crossing over Tetrad variation Prophase I spindle fiber aster fibers centrioles Metaphase I • Shortest phase • Tetrads align in middle of cell. • INDEPENDENT ASSORTMENT OCCURS: 1. Orientation of homologous pair to poles is random. 2. Results in Variation Formula for genetic combinations: 2n Example: 2n = 4 then n = 2; thus 22 = 4 combinations Metaphase I OR metaphase plate metaphase plate Anaphase I Sister chromatids attached • Homologous chromosomes separate and move towards the poles. • SEGREGATION of chromosomes. • Sister chromatids remain attached at their centromeres. Homologous chromosomes separate Telophase I • Each pole now has haploid set of chromosomes. • Cytokinesis occurs and two haploid daughter cells are formed. Meiosis II: • Sister chromatids separate • No interphase II (or very short - no more DNA replication) • similar to mitosis Meiosis Meiosis I: Homologous chromosomes divide (2n n) Meiosis II: Sister chromatids separate Mitosis vs. Meiosis Mitosis Meiosis 1 parent produces 2 DIPLOID daughter cells (2n 2n) 1 parent produces 4 HAPLOID daughter cells (2n n) Somatic cells Gametes Parent & daughter are genetically identical Daughter cells are not genetically identical (They have different chromosomes) Prophase: Homologous chromosomes do not line up Prophase 1: Homologous chromosomes SYNAPSE (Tetrads); Cross-over occurs Metaphase: Chomosomes line up in middle of cell Metaphase 1: Homologous chromosomes line up together. Anaphase: Sister chromatids split Anaphase 1: Homologous chromosomes split; sister chromatids still attached. Sources of Genetic Variation in Sexual Reproduction. • 1. Mutation = original source of variation (in asexual & sexual) • 2 Random fertilization = offspring are a combination of paternal + maternal chromosomes. There different versions of genes (alleles) for each trait (BB, Bb, bb; B = brown fur; b = black fur) Different versions = diff. nucleotide sequences on chromosomes. Sources of Genetic Variation in Sexual Reproduction. • 3. Independent arrangement of homologous chromosomes at metaphase plate in Metaphase I of meiosis. (Do you get maternal or paternal chromosome?) – 2n = # combinations n=23 chromosomes – Over 8 million combinations of chromosomes 4. Crossing over: Exchange of corresponding segments b/w 2 homologous chromosomes (Prophase I) Sources of Genetic Variation: Crossing Over • Produces new combinations of traits that did not exist in maternal or paternal genome. New combinations of genes = Genetic Recombination Genetic Variation: Who Cares? Variations of traits w/in populations is what natural selection acts on in the process of evolution. What traits are favorable? Unfavorable? Nondisjunction in Meiosis • Failure of chromosomes to separate during Meiosis I or II • Leads to abnormal # of chromosomes in offspring (usually fatal) • Ex: Downs syndrome Nondisjunction in Meiosis I vs. II Nondisjunction in meiosis I all resulting gametes have incorrect chromosome # (fertilization will result in trisomy or monosomy in zygote) Nondisjunction in meiosis II Half of resulting gametes have incorrect chromosome # Monosomies Having 45 Chromosomes • Lethal if autosomal • Turner Syndrome (XO) - infertile females, short stature, “webbed” neck, possible cognitive impairments http://web.udl.es/usuaris/e4650869/d ocencia/segoncicle/genclin98/recurso s_classe_(pdf)/revisionsPDF/chromo syndromes.pdf http://en.wikipedia.org/wiki/Monosomy Trisomies: 47 chromosomes Autosomes • Down’s Syndrome (#21) – most common • Edwards (#18) • Patau (#13) Sex Chromsomes (Y determines maleness) • XXY Klinefelter males (infertile, tall, long limbs, some secondary female characteristics, possible cognitive issues) • XYY normal male • XXX normal female http://web.udl.es/usuaris/e4650869/d ocencia/segoncicle/genclin98/recurso s_classe_(pdf)/revisionsPDF/chromo syndromes.pdf http://en.wikipedia.org/wiki/Monosomy Nondisjunction in Meiosis Chromosomal mutations: change in an entire chromosome; may involve loss or duplication of multiple genes Types of Chromosomal Mutations 1. Deletion 2.Duplication 3.Inversion 4.Translocation (balanced & unbalanced) Types of Chromosomal Mutations Partial deletions, duplications, translocations http://en.wikipedia.org/wiki/Monosomy Nondisjunction in Meiosis Links • • http://www.youtube.com/watch?v=Ba9LXKH2ztU&feature=related http://www.youtube.com/watch?v=sJCWVTnFf5o&feature=related • • http://www.youtube.com/watch?v=QwmpD0OB3AQ&NR=1&feature=endscreen http://www.youtube.com/watch?v=kVMb4Js99tA&feature=related