Meiosis Lecture Flashcards
Explain chromosome segregation differences between Meiosis I and II
Meiosis I: Reductional division. Number of chromosomes(N) and chromatids(C) is cut in half. From 2N and 4C to 1N and 2C.
Meiosis II: Equational division. 1N and 2C to 1N and 1C. Similar to Mitosis.
Discuss the distinguishing features and mechanisms of Meiosis I
Pairing and synapsis:
Attachment of clustering telomeres at the nuclear envelope (chromosome bouquet) associated with Rapid Chromosome Movements.
Synaptonemal Complex: SC is a tripartite structure that serves as the molecular glue holding homologous chromosomes together.Possible functions: organize loops of chromatin, mediate synapsis via protein-protein interactions, aid in assembly of recombination complexes.
Recombination:
Programmed formation of Double Strand Breaks at hotspots (DSBs)
Exonucleolytic resection of 5’ ends at breaks
Strand invasion into a chromatid of the homologous chromosome
Repair of DSBs by homologous recombination: Crossover (chiasmata, 23 meioses), non-crossover (chromosome pairing- most common, 200 meioses)
Failure of a chromosome pair to undergo at least one crossover event can lead to aneuploidy
Homologous chromosome segregation:
Homologous chromosomes are separated while sister chromatids stay held together by cohesions. The enzyme separase cleaves the cohesions holding arms together
Explain the events that occur during each stage of Prophase I
Leptotene: Chromosomes Condense, bouquet formation, AE and SC begin to assemble, programmed DSBs at recombination nodules
Zygotene: Pairing extends, AE to LE, Synapsis begins
Pachytene: Completion of synapsis, maturation of meiotic recombination sites into crossovers
Diplotene: Chromosomes undergo desynapsis, Homologues are held together by crossovers (visible as chiasmata), further condensation occurs
Discuss sex dimorphisms in meiosis
Males:
Meiosis begins at puberty
Sequential, synchronous, continuous
Each cell that enters meiosis will produce 4 haploid sperm
Spermatogenesis has more stringent checkpoints.
Females:
Meiosis begins during fetal development
Oocytes arrested in Prophase I (diplotene). Meiosis I resumes with ovulation and cells are then arrested in Metaphase II. Meiosis II will only go to completion when fertilization occurs.
Each cell that enters meiosis will produce 1 haploid egg. First and Second Polar bodies produced.
Most meiotic errors are maternal in origin and happen during Meiosis I.
Oogenesis is more robust
Identify causes of meiotic errors
Advanced maternal age, environmental chemical exposure, parental exposure to radiation or chemotherapy, maternal diabetes or obesity, genetic mutations, oral contraceptives or fertility drugs, thyroid antibodies, alcohol consumption, smoking, seasonality, parity, consanguinity
Describe the Maternal Age Effect
maternal age is linked to aneuploidy, exact relationship is chromosome dependent. Contributing factors: recombination errors, dna replication pathways compromised, low sensitivity to cell cycle checkpoints, spindle abnormalities, incorrect kinetochore-microtubule interactions, alterations in chromosome structure, deterioration of chromosome cohesion (chromosome segregation relying on old proteins that were put on chromosomes during S phase- as a fetus for females)
clinical consequences of meiotic errors
Infertility, miscarriages, and birth defects
Aneuploidy
Error in cell division that results in daughter cells lacking proper number of chromosomes.
Aneuploidy, for example, occurs in 10-30% of fertilized human eggs in a normal healthy population (upwards of 60% in females of advanced maternal age). Aneuploidy is the leading cause of pregnancy loss and the genetic cause of developmental disabilities and mental retardation.
Trisomy (16,18,21)
Trisomy: 3 of the same chromosome
Trisomy 16: leads to miscarriage-most common
Trisomy 18: Edwards Syndrome- usually fatal before birth or first year of life
Trisomy 21: Down Syndrome
Homologous Chromosome
Chromosomes that differ in parental origin
Describe the process of Recombination
- Programmed formation of Double Strand Breaks at hotspots (DSBs)
- Exonucleolytic resection of 5’ ends at breaks
- Strand invasion into a chromatid of the homologous chromosome
- Repair of DSBs by homologous recombination: Crossover (chiasmata, 23 meioses), non-crossover (chromosome pairing- most common, 200 meioses)
Failure of a chromosome pair to undergo at least one crossover event can lead to aneuploidy
Sister Chromatid
Two copies of a single chromosome produced by DNA replication
Bivalent
Structure formed from association of homologous chromosomes
Centromere
Region on chromosomes upon which kinetochores assemble
Kinetochore
Protein based structure that allows attachment to the spindle