Meiosis: reductive division - What is meiosis? - What are the stages? - Independent assortment - What can “go wrong”? - Karyotyping Refer to chapter 10 in text - What is meiosis? Gregor Mendel - 19th century Austrian monk, (?) looking at pea plants… - Described patterns of trait inheritance (e.g. segregated- not-blended), but offered no mechanism. - His work was not recognized until half a century later, in the wake of Darwin. One version of each gene (one allele) comes from each parent… If all the parental genes were passed on offspring would have twice as much DNA as parents. We have two versions of each chromosome in our somatic cells (diploid). Gametes have one version of each (haploid). Meiosis is reduction division, forming haploid gametes. - What are the stages? Homologous chromosomes are the two parental chromosome versions, found in diploid organisms. (This graphic shows a diploid number of 2: one pair of homologous chromosomesIn humans 2n= 46, or 23 pairs.) Interphase I, as in mitosis, includes an S phase for the replication of the DNA. Sister chromatids are joined at centromeres. meiosis I (first round), results in two haploid cells, with sister chromatids still attached. meiosis II (second round) results in four haploid cells, with one half of the original amount of DNA. * NB → names of phases, synapse, to make tetrads (aka bivalents) chiasmata/crossover, kinetochore, metaphase plate, spindle, centrosome… * Some interesting details in three slides rest of phase names, cleavage, cytokinesis… Prophase I Homologous chromosomes together, forming tetrads. Chiasmata Metaphase I Tetrads line up at center. Anaphase I Homologous pairs migrate apart. Centromeres do not split. Telophase I Two cells, each with two copies of ½ info. . . MEIOSIS I . RECAP Interphase (like mitosis, ending with replicated DNA, sister chromatids bound at centromere). MEIOSIS II Prophase II Spindles form in each cell. Metaphase II Chromosomes line up, still joined to sisters. Anaphase II Pairs split at centromere, move apart. . Telophase II New cells form. Result: four haploid cells—gametes. About that prophase I, It can be divided into 5 sub-phases, with self explanatory names: (b) Leptotene (thin threads): DNA condensing, synaptonemal complex forming for… (c) Zygotene (double threads): pairing/zipping together of homologous chromosomes (d) Pachytene (thick threads): chiasmata form (e) Diplotene (2 threads): SC degrades, homologs back off except at chiasmata (e also) Dikinesis (move through): DNA packs tighter, nucleus dissolves, spindles forming Independent assortment There is no control over how the homologs align in metaphase I … In meiosis, the possible outcomes equal 2n, where n = the number of chromosome pairs: In you, 223, or 8,288,608 possible combos of paternal and maternal chromosomes! (Mendel just happened to pick traits for his experiments that all sorted independently...) What can “go wrong”? Chiasmata, crossing over between non-sister chromatids during tetrad formation in prophase I. If the parts miss-align, you get some of those chromosomal mutations. If they line up, it is an important contributor toward genetic variability. Generally not so tidy! With this added in, the gamete genome possibilities skyrocket well beyond 8 million: “ Effectively infinite”. www.biologie.uni-hamburg.de/b-online/e11/4.htm Gene Mapping Without chiasmata, genes on a given chromosome would always be inherited together: With chiasmata, distant genes on the same chromosome can recombine, resulting in non-parental mixes. Very distant genes may sort independently, as if on separate chromosomes. The closer the genes, the less likely they are to sort independently. This is used to estimate gene locations. (Note- it is not really this simple: proximity to centromere has a role. Male Drosophila chromosomes don’t cross over…! What can “go wrong”? cont. Nondisjunction occurs when chromosomes fail to separate in meiosis: - tetrads do not split in meiosis I, OR - sister chromatids fail to split in meiosis II (primary nondisjunction) (secondary nondisjunction) If such a gamete is used, result is aneuploidy of the zygote. Note: trisomy shown. n-1 gamete results in monosomy. A karyogram is a tool used to screen for abnormalities in karyotype. A sample can be taken from a fetus by amniocentesis or chorionic villus sampling. Mitosis in a somatic cell is arrested, the chromosomes are stained, a micrograph is taken, and using cut-and-paste chromosomes are ordered by size, centromere location, and banding pattern. In humans 1 through 22 are autosomal chromosomes The 23rd “pair” are the sex chromosomes. male = XY female= XX Female somatic cells have one X disabled as a Barr body. (In cats this results in calico and tortoiseshell colors) You are to actually work with karyotyping… How is a karyotype done? Why is a karyotype done? What is meant by independent assortment? Draw and label the stages of meiosis. Compare meiosis and mitosis, thoroughly. What is the purpose of meiosis? What are chiasmata? Significance? (“Good” and “bad”) Describe how Patau syndrome happens (trisomy 13). Gregor Mendel telophase I independent assortment somatic cell prophase II chromosomal mutations diploid metaphase II genetic variability gamete anaphase II gene mapping haploid telophase II nondisjunction meiosis synapse aneuploidy homologous chromosome tetrad trisomy Interphase I chiasma zygote S phase crossover monosomy sister chromatid kinetochore karyotype meiosis I metaphase plate amniocentesis meiosis II spindle chorionic villus sampling prophase I centrosome autosomal chromosome metaphase I cleavage sex chromosome cytokinesis Barr body karyogram anaphase I