Chapter 9 Outline 9.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids, 238...
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Transcript of Chapter 9 Outline 9.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids, 238...
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Chapter 9 Outline
• 9.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids, 238
• 9.2 Chromosome Rearrangements Alter Chromosome Structure, 240
• 9.3 Aneuploidy Is an Increase or Decrease in the Number of Individual Chromosomes, 249
• 9.4 Polyploidy Is the Presence of More than Two Sets of Chromosomes, 255
• 9.5 Chromosome Variation Plays an Important Role in Evolution, 260
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9.1 Chromosome Mutations Include Rearrangements, Aneuploids, and Polyploids
• Chromosome Morphology (position of the centromere on the chromosome):
• Metacentric
• Submetacentric
• Acrocentric
• Telocentric
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• Rearrangements:
• Aneuploidy
• Polyploidy
Types of Chromosome Mutations
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• Duplication
9.2 Chromosome Rearrangements Alter Chromosome Structure
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9.2 Chromosome Rearrangements Alter Chromosome Structure
• Deletions
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9.2 Chromosome Rearrangements Alter Chromosome Structure
• Inversion (depends on the involvement of the centromere in the inversion):
Paracentric inversion
Pericentric inversion
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Translocation
• Nonreciprocal translocation
• Reciprocal translocation
• Robertsonian translocation
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9.3 Aneuploidy Is an Increase or Decrease in the Number of Individual Chromosomes
• Causes of Aneuploidy:
• Deletion of centromere during mitosis and meiosis
• Robertsonian translocation
• Nondisjunction during meiosis and mitosis
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Types of Aneuploidy
• Nullisomy: loss of both members of a homologous pair of chromosomes. 2n − 2
• Monosomy: loss of a single chromosome. 2n − 1
• Trisomy: gain of a single chromosome. 2n + 1
• Tetrasomy: gain of two homologous chromosomes. 2n + 2
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Concept Check 3
A diploid organism has 2n = 36 chromosomes. How many chromosomes will be found in a trisomic member of this species?
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Concept Check 3
A diploid organism has 2n = 36 chromosomes. How many chromosomes will be found in a trisomic member of this species?
2n + 1 = 36 + 1 = 37
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Effects of Aneuploidy in Plants
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Effects of Aneuploidy in Humans
• Sex-chromosome aneuploids:
• Turner syndrome. XO
• Klinefelter sydrome. XXY
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Effects of Aneuploidy in Humans
• Autosomal aneuploids:
• Trisomy 21 – Down syndrome
• Primary Down syndrome, 75% random nondisjunction in egg formation
• Familial Down syndrome, Robertsonian translocation between chromosomes 14 and 21
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Effects of Aneuploidy in Humans
• Autosomal aneuploids:
• Trisomy 18 – Edward syndrome, 1/8000 live births
• Trisomy 13 – Patau syndrome, 1/15,000 live births
• Trisomy 8 – 1/25,000 ~ 1/50,000 live births
• Why is there a drastic decrease in frequency of these trisomic syndromes from chromosome 18 to chromosome 8?
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Effects of Aneuploidy in Humans
• Autosomal aneuploids:
• Aneuploidy and maternal age
• Possible interpretation of this connection
• Uniparental disomy: Both chromosomes are inherited from the same parent.
• Mosaicism and nondisjunction in mitotic division
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9.4 Polyploidy Is the Presence of More than Two Sets of Chromosomes
• Autopolyploidy:
From single species
• Allopolyploidy:
From two species
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9.5 Chromosome Variation Plays an Important Role in Evolution
• New and extra copies of genes give rise to new functions.
• New and extra sets of genes may give rise to new species.