MEIOSIS Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital REDUCTION OF THE CHROMOSOME NUMBER AND SEPARATION BY MEIOSIS paternal maternal A a ANAPHASE I a A ANAPHASE II A A A aa a COMPARISON MITOSIS - MEIOSIS DRAW THE EXPECTED DISTRIBUTION OF 2 PAIRS OF CHROMOSOMES (2n = 4) DURING MEIOSIS (NO-CROSSING OVER IS SUPPOSED) HOW MANY DIFFERENT TYPES OF GAMETES CAN ORIGINATE WHEN: 2n = a) 4, b) 6, c) 46? 2n = 4 ANAPHASE I ANAPHASE II M P HOW MANY DIFFERENT TYPES OF GAMETES CAN ORIGINATE WHEN: 2n = a) 4, b) 6, c) 46? a) 4 b) 8 c) 223 In general 2n MEIOSIS – PROPHASE I TETRAD SYNAPSE BIVALENT LEPTOTENE DIAKINESIS DESYNAPS E DIPLOTENE ZYGOTENE 2n = 4 CROSSING-OVER PACHYTENE MEIOSIS I – CONT. MEIOSIS II Task 7, p. 29 WHICH GENETIC MECHANISMS COULD CAUSE THE GENETIC VARIABILITY OF NEXT GENERATIONS? RECOMBINATIONS • INTRACHROMOSOMAL • OF MATERNAL AND PATERNAL CHROMOSOMES DURING GAMETOGENESIS • CHROMOSOME SETS DURING FERTILIZATION MUTATIONS 1. Nondisjunction in Down, Turner, and Klinefelter syndrome p. 80/Task 6e, a, b (preserve this order) Remaining c) and d) - syndromes XXX and supermale – home work, as selfstudy! N.B.: Fill in all possibilities of the nondisjunction events for a particular syndrome could originate. This is asked in the text, exactly as in final exam test. 11 General schedule of disjunction of chromosomes in the meiosis normal and fertilisation gamete normal gamete of the second parent Germinal cell (pair of chromosomes) Chromosome disjunction in meiotic division I. No.No. or XX or XY No. No. After the meiosis I (single chromosome) Chromatid disjunction No. No. No. No. zygote in meiotic division II. After the meiosis II (monochromatidal No. chromosome) N. o N. o N. o Normal karyotype General schedule of nondisjunction normal gamete of (principle, example) aberrant the second parent gamete (monosomic) Germ cell (pair of chromosomes) No.No. or XX or XY No. No. No. After the meiosis I (single chromosome) Chromatid nondisjunction in meiotic division II. No. After the meiosis II o o (monochromatidal N . N . chromosome) No. No. No. No. zygote No. No. cytogenetic diagnosis Down syndrome (simple trisomy) Nondisjunction in the meiosis I aberrant in the father or in the mother normal gamete of the second parent gamete (monosomic) 21 21 21 21 21 21 21 21 21 21 zygote 21 21 21 21 47,XX, +2147,XY, Down syndrome (simple trisomy) Nondisjunction in the meiosis II normal gamete of aberrant the second parent in the father or in the mother gamete (monosomic) 21 21 21 21 21 21 21 21 21 21 zygote 21 21 21 21 47,XX,+21 47,XY,+21 Turner syndrome Nondisjunction in the paternal meiosis I mother’s normal aberrant gamete gamete (monosomic) XY X X XY zygote XY XY 45,X Turner syndrome Nondisjunction in the maternal meiosis I aberrant gamete father’s normal gamete (monosomic) XX XX X X zygote XX XX 45,X Turner syndrome Nondisjunction in the paternal meiosis II mother’s normal aberrant gamete gamete (monosomic) XY X X Y X zygote X X or: XX 45,X Y Y Y Y Turner syndrome Nondisjunction in the maternal meiosis II aberrant father’s normal gamete gamete (monosomic) XX X X X X zygota X X XX 45,X Klinefelter syndrome Nondisjunction in the paternal meiosis I aberrant mother’s normal gamete gamete (monosomic) XY XY XY X XXY zygote XY XY 47,XXY Klinefelter syndrome Nondisjunction in the maternal meiosis I father’s normal aberrant gamete gamete (monosomic) XX XX Y XXY XX zygote XX XX 47,XXY Klinefelter syndrome Nondisjunction in the maternal meiosis II aberrant father’s normal gamete gamete (monosomic) XX XX X X Y XXY zygote XX X X 47,XXY