Genetic recombination

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1 Genetic recombination Genetic recombination Obtaining of new gene combinations by rearrangements in genetic material: Between two DNA molecules Between two different chromosomes Between two sets of chromosomes 1

2 Biological importance of recombination Genetic variability Natural selection Biologic evolution Recombination and phenotype consequences Genetic polymorphism Normal phenotypic polymorphism Different reaction to environment (drugs, food, toxins...) Susceptibility to infections Predisposition to diseases (cancers, diabetes...) Abnormal phenotypic polymorphism Types of recombination Genomic between and genomes = 46 Chromosomal Inter-chromosomal between nonhomologous chromosomes; Intra-chromosomal between homologous chromosomes Gene between two alleles by gene fusion During fertilisation During meiosis During meiosis 2

3 ? What is fertilization? Fusion of two sexual cells of different origin (haploid gametes; 23 ) formation of zygote (diploid cell 46 ). What is meiosis? Formation of haploid cells called gametes (by reductional division a cell with 46 makes haploid cells with 23 ) Passing of genetic material from parents to children Mitosis, differentiation, growing Copil (2n) Mitosis, differentiation, growing Adulţi (2n) Zigot (2n) Meiosis Sperm (n) Fertilization Egg (n) OVOGENESIS SPERMATOGENESIS Peculiarities of segregation of chromosomes in meiosis during ovogenesis and spermatogenesis 3

4 Mitosis vs. Meiosis 46 SC Replication 46 SC Replication 46 BC 46 BC 46 SC Mitosis Somatic cells 46 SC 23 SC 23 BC 23 SC Meiosis I II 23 SC 23 BC 23 SC Sexual cells = gametes 2n=2c Mitosis Meiosis M 2n=4c MI AI! Bivalents at equator! BC Chrs to poles A TI! n=2c T MII 2n=2c 2n=2c AII! MC Chrs to poles TII! Meiosis I division reductional (2n=4c n=2c) Prophase I Metaphase I Anaphase I Telophase I II Division equational (n=2c ) Prophase II Metaphase II Anaphase II Telophase II 4

5 Meiosis I reductional Prophase I Condensation of chromosomes Formation of spindle!!! Conjugation of homologous chromosomes bivalents!!! Crossing-over intra-chromosomal recombination There are 5 phases: L, P, Z, D, D Prophase I Leptotene Zygotene Pachytene Diplotene Diakinezis Chromatin condensation!!! Conjugation of homologous chromosomes!!! Crossingover Pushing of chromosomes Chiasma termination Conjugation of homologous chromosomes Takes place during prophase I Synapses of homologous chromosomes Ensured by synaptonemal complex Importance formation of bivalents 5

6 Synaptonemal complex Scaffold Recombination nodules Chromatin of paternal sister chromatids Chromatin of maternal sister chromatids Crossing-over Takes place during prophase I Exchange of fragments between homologous chromosomes intrachromosomal recombination Determined by synaptonemal complex Importance genetic variability Crossover gametes Non-crossover gametes 6

7 Molecular mechanism of crossing-over 7

8 8

9 Metaphase I Bivalents at equator!!! Random orientation of chromosomes to poles or Important Anaphase I Disjunction of homologous chromosomes Migration of BC chromosomes to poles (n chromosomes to each poles)!!! Independent combination of nonhomologous chromosomes = interchromosomal recombination 2 n combination or or or AbC abc ABC abc Abc abc ABc abc Interchromosomal recombination Takes place during anaphase I Between non-homologous maternal and paternal chromosomes Random separation of non-homologous chromosomes Importance genetic variability of gametes 9

10 Telophase I Reorganization of two nuclei (n=2c) Citokinesis Two gametocytes (haploid, chromosomes BC)!!! Reduction of number of chromosomes n=2c 2n=4c n=2c Interkinesis Preparation to second division (meiosis II) Meiosis II equational division Prophase II Formation of spindle Maturation of kinetocores and 10

11 Metaphase II At equator SC chromosomes and Anaphase II Longitudinal cleavage of centromere Disjunction of chromatids Migration of SC chromosomes ( ) and Telophase II Reorganization of nuclear envelopes and formation of haploid nuclei () Cytokinesis 4 haploid gametes n=2c II div I div 2n=4c II div n=2c 11

12 Biological importance of meiosis Maturing of gametes Genetic recombination Multiplication of gametes n=2c II div I div 2n=4c n=2c II div Ovogenesis Spermatogenesis Ovogonia Replication Spermatogonia Replication 1 st ovocyte Meiosis I (reductional) 1 st spermatocyte Meiosis I (reductional) 2 nd ovocyte Meiosis II (equational) Egg Polar body 2 nd spermatocytes Meiosis II (equational) Spermatides Formation of Spermatozoon Polar bodies sperms Fecundation) Zygote Spermatozoon 12

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