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Topic 3 Meiosis (gamete formation) Human chromosomes • Human somatic cells (any cell other than a gamete) have: • 22 pairs of homologous chromosomes • 1 pair of sex chromosomes • 46 individual chromosomes • Individuals inherit one set from each parent Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings Human chromosomes • The sex chromosomes are called X and Y • Human females have a homologous pair of X chromosomes (XX) • Human males have one X and one Y chromosome, which is much smaller than an X chromosome • The 22 pairs of chromosomes that do not determine sex are called …? • Are these chromosomes from a male or female? • How do you know? Sex chromosomes Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings How we describe cellular chromosome number Humans Diploid (2n) lll ll l Chromosome # = 6 Cells with 2 complete sets of chromosomes (1 set from mom, 1 set from dad – pairs!…this means that you have 2 versions of every gene.) Human gametes (sex cells) Haploid (n) l l l Chromosome # = 3 Cells with 1 complete set of chromosomes (only one of each gene) Human gametes (n) are combined for reproduction. sperm n=23 n=23 egg Fertilization The fertilized egg is now 2n and is called a zygote. 2n=46 zygote 5 Meiosis & Sexual Reproduction Double division of meiosis DNA replication 1st division of meiosis separates homologous pairs Meiosis 1 Meiosis 2 2nd division of meiosis separates sister chromatids Figure 13.7 The stages of meiotic cell division: Meiosis I OBJ 15 8 Figure 13.7 The stages of meiotic cell division: Meiosis II OBJ 15 9 Trading pieces of DNA creates variation Crossing over during Prophase 1, sister chromatids of homologous chromosomes intertwine homologous pairs swap pieces of chromosome • DNA breaks & re-attaches tetrad prophase 1 Variation from: Independent assortment of chromosomes gametes of offspring do not have same combination of genes as gametes from parents random assortment in humans produces 223 (8,388,608) different combinations in gametes from Mom from Dad offspring new gametes made by offspring Mitosis vs. Meiosis Gametogenesis in humans Oogenesis: formation of eggs Spermatogenesis: formation of sperm Occurs in the reproductive organs Oogenesis During fetal development, oocyte pauses after Prophase I Meiosis 1 completed during maturation Meiosis 2 pauses in Metaphase II Meiosis 2 completed after release from ovary Sperm production Variation from random fertilization Sperm + Egg = ? any 2 parents will produce a zygote with over 70 trillion (223 x 223) possible diploid combinations Sexual reproduction creates variability Sexual reproduction allows us to maintain both genetic similarity & differences. When meiosis goes wrong: chromosomal disorders Human chromosomes review • The sex chromosomes are called X and Y • Human females have a homologous pair of X chromosomes (XX) • Human males have one X and one Y chromosome, which is much smaller than an X chromosome • The 22 pairs of chromosomes that do not determine sex are called autosomes Sex chromosomes Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings ACTIVITY INTERLUDE Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings Karyotype review • A karyotype is an ordered display of the pairs of chromosomes from a cell • Karyotypes can tell us the sex of a fetus • Karyotypes can also tell us if there are chromosomal abnormalities • Autosomal disorders result from extra autosomal chromosomes • Sex chromosome disorders result from extra sex chromosomes Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings Chromosomal disorders Result from errors during meiosis Abnormal number of chromosomes (nondisjunction) Chromosomes fail to separate (either during meiosis 1 or meiosis 2) Usually fatal if an autosome Usually nonfatal if a sex chromosome (if there is at least one X) Missing bits of chromosome (deletion) Crossing over with nonhomologous chromosomes (translocation) ACTIVITY INTERLUDE Patient A Patient B Patient C What’s the diagnosis? Patient A: Klinefelter’s syndrome Extra sex chromosome (XXY) Patient B: Patau syndrome (trisomy 13) Extra autosomal chromosome 13 Patient C: Down’s syndrome (trisomy 21) Extra autosomal chromosome 21 Variation from: Crossing over: creates completely new combinations of traits on each chromosome Can create an infinite variety in gametes Sperm production Epididymis Testis Coiled seminiferous tubules germ cell (diploid) primary spermatocyte (diploid) MEIOSIS I secondary spermatocytes (haploid) Vas deferens spermatids (haploid) spermatozoa Cross-section of seminiferous tubule MEIOSIS II Oogenesis primary follicles germinal cell (diploid) fallopian tube fertilization primary oocyte (diploid) MEIOSIS I secondary oocyte (haploid) first polar body MEIOSIS II second polar body developing follicle mature follicle with secondary oocyte ruptured follicle (ovulation) ovum (haploid) corpus luteum The value of sexual reproduction Sexual reproduction introduces genetic variation genetic recombination independent assortment of chromosomes crossing over random fertilization Providing variation for natural selection metaphase1