Podcast
Questions and Answers
What is the result when a gene is expressed properly?
What is the result when a gene is expressed properly?
- Functional protein is produced at an appropriate level. (correct)
- Functional protein is produced at an incorrect level.
- Only one copy of protein is produced.
- No protein is produced.
What can occur if one copy of a gene that requires two copies is deleted?
What can occur if one copy of a gene that requires two copies is deleted?
- Haploinsufficiency may lead to a mutant phenotype. (correct)
- Protein overproduction is likely.
- No change in phenotype is observed.
- Increased stability of the organism is ensured.
How do duplications primarily affect gene dosage?
How do duplications primarily affect gene dosage?
- They result in gene deletions.
- They always lead to non-viable offspring.
- They do not affect gene dosage at all.
- They can cause an unbalanced dosage of gene products. (correct)
What is a major consequence of unequal crossing over during meiosis?
What is a major consequence of unequal crossing over during meiosis?
Which of the following statements is true about tandem duplications?
Which of the following statements is true about tandem duplications?
What are two general types of chromosomal variations?
What are two general types of chromosomal variations?
What happens during a deletion in chromosomal rearrangement?
What happens during a deletion in chromosomal rearrangement?
What is the major consequence of a chromosomal deletion?
What is the major consequence of a chromosomal deletion?
During meiosis, how can deletions be detected?
During meiosis, how can deletions be detected?
What can deletion of DNA sequences lead to regarding allele expression?
What can deletion of DNA sequences lead to regarding allele expression?
What is the effect of a deletion that spans a centromere during cell division?
What is the effect of a deletion that spans a centromere during cell division?
Which method can be used to study chromosomal variations?
Which method can be used to study chromosomal variations?
What role does genetic variation play in biology?
What role does genetic variation play in biology?
What is one consequence of gene duplication?
What is one consequence of gene duplication?
What event can lead to the formation of pseudogenes?
What event can lead to the formation of pseudogenes?
Which process describes the acquisition of a new function following gene duplication?
Which process describes the acquisition of a new function following gene duplication?
What is a significant effect of increased gene dosage on phenotype?
What is a significant effect of increased gene dosage on phenotype?
What is an example of a multigene family resulting from gene duplication?
What is an example of a multigene family resulting from gene duplication?
What is one type of chromosomal rearrangement defined by two breaks on a chromosome and reinsertion in the opposite orientation?
What is one type of chromosomal rearrangement defined by two breaks on a chromosome and reinsertion in the opposite orientation?
What is a potential outcome of an inversion on phenotype?
What is a potential outcome of an inversion on phenotype?
How many copies of the salivary amylase gene do humans typically have as a result of duplication?
How many copies of the salivary amylase gene do humans typically have as a result of duplication?
What effect can a change in the position of genes have on phenotype?
What effect can a change in the position of genes have on phenotype?
What is the outcome of crossing over occurring within an inverted region?
What is the outcome of crossing over occurring within an inverted region?
Which type of inversion can happen without the use of centromeres?
Which type of inversion can happen without the use of centromeres?
What happens to gametes produced when no crossing over occurs within an inverted region?
What happens to gametes produced when no crossing over occurs within an inverted region?
What is a characteristic of a dicentric chromatid during cell division?
What is a characteristic of a dicentric chromatid during cell division?
In terms of chromosomal rearrangements, what does translocation involve?
In terms of chromosomal rearrangements, what does translocation involve?
Which of the following is NOT a consequence of crossing over within a pericentric inversion?
Which of the following is NOT a consequence of crossing over within a pericentric inversion?
What can result from the crossing over between inverted and non-inverted chromosomes?
What can result from the crossing over between inverted and non-inverted chromosomes?
What defines a balanced translocation between chromosomes?
What defines a balanced translocation between chromosomes?
Which of the following describes a consequence of reciprocal translocations?
Which of the following describes a consequence of reciprocal translocations?
What is the genetic feature associated with the 'Philadelphia' chromosome?
What is the genetic feature associated with the 'Philadelphia' chromosome?
What is one significant consequence of chromosomal inversions?
What is one significant consequence of chromosomal inversions?
In the context of Ruff males, which statement regarding the chromosomal inversion is true?
In the context of Ruff males, which statement regarding the chromosomal inversion is true?
What is the result of a chromosomal inversion in the homozygous condition for the Ruff's inversion?
What is the result of a chromosomal inversion in the homozygous condition for the Ruff's inversion?
What initiates the formation of different male types in Ruff sandpipers?
What initiates the formation of different male types in Ruff sandpipers?
Which of the following best explains the concept of gene expression alteration due to translocations?
Which of the following best explains the concept of gene expression alteration due to translocations?
What is the potential outcome for offspring that are homozygous for the inversion in ruffs?
What is the potential outcome for offspring that are homozygous for the inversion in ruffs?
Why has the inversion persisted for 3.8 million years in ruffs?
Why has the inversion persisted for 3.8 million years in ruffs?
What does the lack of recombination within inversion regions facilitate?
What does the lack of recombination within inversion regions facilitate?
How does the chromosomal inversion in Atlantic cod affect their adaptability to water temperature?
How does the chromosomal inversion in Atlantic cod affect their adaptability to water temperature?
What is the significance of the sequence divergence observed within inversions in the context of ruffs?
What is the significance of the sequence divergence observed within inversions in the context of ruffs?
What kind of variations are influenced by major inversions in Atlantic cod?
What kind of variations are influenced by major inversions in Atlantic cod?
What does the term 'Faeder' male refer to in the context of ruff reproduction?
What does the term 'Faeder' male refer to in the context of ruff reproduction?
In hook of the chromosomal variations, which concept is touched upon regarding inversions?
In hook of the chromosomal variations, which concept is touched upon regarding inversions?
Flashcards
Chromosomal Rearrangement
Chromosomal Rearrangement
A permanent change in the structure of a chromosome, passed on to offspring if the change occurs in germline cells.
Deletion (Chromosomal)
Deletion (Chromosomal)
Loss of a chromosome segment; either at the end or internally.
Deletion Loop
Deletion Loop
A structure formed during meiosis in a cell containing a deletion that is detected.
Acentric Chromosome
Acentric Chromosome
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Pseudodominance
Pseudodominance
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Gene Dosage
Gene Dosage
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Unequal crossing over
Unequal crossing over
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Terminal Deletion
Terminal Deletion
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Haploinsufficiency
Haploinsufficiency
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Chromosome Duplication
Chromosome Duplication
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Tandem Duplication
Tandem Duplication
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Gene duplication
Gene duplication
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Pseudogene
Pseudogene
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Neofunctionalization
Neofunctionalization
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Gene family
Gene family
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Inversion (chromosome rearrangement)
Inversion (chromosome rearrangement)
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Pericentric inversion
Pericentric inversion
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Paracentric inversion
Paracentric inversion
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Position Effect
Position Effect
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Variegation
Variegation
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Dicentric Chromatid
Dicentric Chromatid
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Acentric Chromatid
Acentric Chromatid
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Crossing Over Within an Inversion
Crossing Over Within an Inversion
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Translocation
Translocation
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Reciprocal Translocation
Reciprocal Translocation
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Non-reciprocal Translocation
Non-reciprocal Translocation
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Balanced Translocation
Balanced Translocation
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Philadelphia Chromosome
Philadelphia Chromosome
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Fusion Protein
Fusion Protein
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How can translocations affect gene expression?
How can translocations affect gene expression?
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What is the connection between chromosomal rearrangements and disease?
What is the connection between chromosomal rearrangements and disease?
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Chromosomal Inversion
Chromosomal Inversion
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Faeder Male
Faeder Male
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Independent Male
Independent Male
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What is the 'Cost' of Inversion?
What is the 'Cost' of Inversion?
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Why Has Inversion Persisted?
Why Has Inversion Persisted?
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Sequence Divergence Inside vs. Outside Inversion
Sequence Divergence Inside vs. Outside Inversion
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Chromosomal Rearrangements and Adaptation
Chromosomal Rearrangements and Adaptation
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Cod and 'Warm' vs. 'Cold' Water
Cod and 'Warm' vs. 'Cold' Water
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Study Notes
Chromosomal Rearrangements
- Module 10 covers chromosomal rearrangements
- Genetic variations are fundamental to biology
- This module explores types of genetic variation, their origins, detection methods, and biological/societal applications.
Types of Chromosomal Rearrangements
- Two main categories: structural changes and numerical changes
- Structural changes affect chromosome structure
- Numerical changes alter the chromosome number
(1) Deletions
-
Loss of a segment (internal/terminal) from a chromosome
-
Deletion origins: terminal-end break-off or internal incorrect end rejoining
-
Unequal crossing over is another origin
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Major effect: loss of genetic information; impact depends on segment size and location
-
Consequences of Deletions:
- Phenotypic effects dependent on deleted sequence size and location
- Deletion crossing a centromere produces an acentric chromosome (likely lethal during cell division)
- Deletions can lead to pseudodominance (expression of normally recessive alleles)
- Deletions impact gene dosage
- Correct gene dosage = normal functional protein production
- Haploinsufficiency: one gene copy deleted = mutant phenotype
-
Detection of Deletions:
- Deletion loops can be observed during meiosis
- Molecular methods detect lower heterozygosity/gene dosage
(2) Duplications
- Repetition of a chromosome segment
- Simplest form: tandem duplication
- Can affect entire gene or gene clusters
- Often, have little/no effect on viability (phenotype)
- Consequences of Duplications:
- Excess or unbalanced gene products can lead to problems
- Duplications important in evolution- provide raw material for new genes and adaptations
- Origins of Duplications: unequal crossing over of misaligned chromosomes during meiosis.
(3) Inversions
- Two breaks on a chromosome followed by reinsertion in inverted order
- Two types: pericentric (includes centromere) and paracentric (outside of centromere)
- Consequences of Inversions:
- Often have no noticeable effect on phenotype
- Position effects in inversions can alter gene expression/ affect gene regulation
- Consequences for Recombination and Gamete Production:
- Inversions may suppress or reduce recombination frequency
- Improper segregation can result in nonviable gametes
- Inversions are important for understanding of evolution and adaptation
(4) Translocations
-
Exchange of segments between non-homologous chromosomes or rearrangement within a chromosome.
-
Two main types: reciprocal (two-way) and non-reciprocal (one-way).
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Balanced translocation: no genetic material is lost (no phenotypic effect)
-
Consequences of Reciprocal Translocations:
- Altering gene position impacts gene expression
- Potential for gene fusion with different protein products and functions
Example Diseases from Chromosome Variations
- Cri du chat syndrome: deletion in chromosome 5
- Chronic Myelogenous Leukemia (CML): reciprocal translocation (Philadelphia chromosome)
Summary
- Chromosome rearrangements are significant for understanding genetic variations, adaptation, evolution and disease.
- They highlight how alterations in chromosome structure or number can significantly impact organisms, contributing to the diversity of life and diseases.
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