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Alberts • Bray • Hopkin • Johnson • Lewis • Raff • Roberts • Walter
Essential Cell Biology FOURTH EDITION Chapter 19 Sexual Reproduction and the Power of Genetics Copyright © Garland Science 2014
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Most multicellular organisms reproduce sexually.
fertilization of egg by sperm Fig. 19-4
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After fertilization, the diploid zygote then undergoes
rounds of mitosis to generate a new multicellular adult. Fig. 19-5
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Meiosis differs from mitosis in also having a reductive division.
non-reductive division reductive division non-reductive division Fig. 19-6
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Physical Basis of reductive division:
separation of chromosome homologues Fig. 19-7
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holds homologues together
Paired chromosome homologues after duplication (one from each parent) Cohesin holds sister chromatids together Synaptonemal Complex holds homologues together Fig. 19-9
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Physical Basis of reductive division:
separation of chromosome homologues Fig. 19-8
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Meiosis generates genetic diversity in two ways.
Law of Independent Assortment Fig
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Recombination by strand invasion/copying mechanism
Fig
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Cohesin holds sister chromatids together through Meiosis I.
Fig
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Cohesin cleavage allows sister chromatid separation during Meiosis II.
Fig
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Failure to separate in Meiosis I (or II) generates
aneuploid gametes, like those responsible for Down’s Syndrome. Fig
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Mendel used pea plants to uncover the laws of genetics.
Fig
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Law of Segregation (alleles separate during meiosis)
He started with true-breeding plants. They were homozygous for the genes of interest. These crosses revealed two versions of genes (alleles); some are dominant and some are recessive. Law of Segregation (alleles separate during meiosis) Fig
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Crosses of F1 progeny showed that recessive trait is still present
in F1 progeny. It reappeared in F2 progeny. Fig
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Alleles for two different genes can segregate independently
Law of Independent Assortment (multiple chromosome homologue pairs segregate independently) Fig
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The same laws apply to other diploid
multi-cellular organisms, including us. A gene encodes enzyme needed for melanin production. Fig
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Examples of how mutations can generate
recessive vs. dominant phenotypes Example: G protein lost ability to bind GTP retains GTP binding but lost GTPase GTP-binding & GTPase domains recessive dominant
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Frequency of recombination between two
genes depends on distance between them. will appear to segregate independently will almost always co-segregate Fig
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Recombination frequency used to map genes on chromosomes
T.H. Morgan and students responsible for establishing this principle Panel 19-1
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Morgan established fruit flies as model
system for mapping genes on chromosomes. Visible phenotypes (such as eye color) provided a whole array of genetic markers that can be used to map the positions of new genes.
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Single Nucleotide Polymorphisms (SNPs)
provide genetic markers for mapping mutations in human genes that cause disease. Fig
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SNPs inherited in chromosomal blocks (Haplotypes)
Karp, Cell and Molecular Biology, Wiley & Sons
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Haplotype blocks reflect our evolutionary history.
- Closely linked SNPs co-segregate into populations. - Size of haplotype block reflects # generations since emergence of SNPs in the block. - Information used to map histories of different human populations after exiting Africa. larger haplotype blocks smaller haplotype blocks larger haplotype blocks Fig
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Genome-Wide Association Studies (GWAS)
identify SNPs associated with disease phenotypes. Fig disease-associated mutation located in this haplotype block SNP and disease gene in linkage disequilibrium
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