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Questions and Answers
What are homologous chromosomes?
What are homologous chromosomes?
During interphase, chromosomes are visible under a microscope.
During interphase, chromosomes are visible under a microscope.
False
What is the primary function of the centrosomes during mitosis?
What is the primary function of the centrosomes during mitosis?
To generate spindle fibers.
The process of DNA replication occurs during the ______ phase of the cell cycle.
The process of DNA replication occurs during the ______ phase of the cell cycle.
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Match the following stages of the cell cycle with their descriptions:
Match the following stages of the cell cycle with their descriptions:
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In what phase do chromatids attach to centromeres?
In what phase do chromatids attach to centromeres?
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What type of cells are produced through meiosis?
What type of cells are produced through meiosis?
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Sister chromatids are formed during the G1 phase of the cell cycle.
Sister chromatids are formed during the G1 phase of the cell cycle.
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What is the primary purpose of meiosis?
What is the primary purpose of meiosis?
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Crossing over occurs during Anaphase I.
Crossing over occurs during Anaphase I.
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What is the role of spindle fibers during cell division?
What is the role of spindle fibers during cell division?
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Somatic cells are any cells in the body that are not involved in __________.
Somatic cells are any cells in the body that are not involved in __________.
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Match the following types of animal reproduction with their descriptions:
Match the following types of animal reproduction with their descriptions:
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During which phase of mitosis do sister chromatids split and move towards opposite poles?
During which phase of mitosis do sister chromatids split and move towards opposite poles?
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The metaphase plate is where chromosomes line up during telophase.
The metaphase plate is where chromosomes line up during telophase.
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What characterizes telophase in cell division?
What characterizes telophase in cell division?
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The __________ is the central part of a chromosome that holds sister chromatids together.
The __________ is the central part of a chromosome that holds sister chromatids together.
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Match the phase of meiosis with its description:
Match the phase of meiosis with its description:
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What is the term for the process where homologous chromosomes pair up during meiosis?
What is the term for the process where homologous chromosomes pair up during meiosis?
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All gametes are diploid cells.
All gametes are diploid cells.
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What is the function of centrosomes during cell division?
What is the function of centrosomes during cell division?
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During __________, two identical cells are produced from one parent cell.
During __________, two identical cells are produced from one parent cell.
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Match the following terms with their definitions:
Match the following terms with their definitions:
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What is the result of sperm entering a secondary oocyte during ovulation?
What is the result of sperm entering a secondary oocyte during ovulation?
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The phenotype is the genetic makeup of an organism.
The phenotype is the genetic makeup of an organism.
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What process turns a zygote into a blastula?
What process turns a zygote into a blastula?
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In Mendel's experiments, the F2 generation showed a phenotypic ratio of _____ purple to white flowers.
In Mendel's experiments, the F2 generation showed a phenotypic ratio of _____ purple to white flowers.
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What is the term for the protective envelope created during the cortical reaction?
What is the term for the protective envelope created during the cortical reaction?
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Dominant alleles do not influence an organism's appearance if present with a recessive allele.
Dominant alleles do not influence an organism's appearance if present with a recessive allele.
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What does Mendel's law of segregation state?
What does Mendel's law of segregation state?
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A gene that has multiple phenotypic effects is an example of _____ inheritance.
A gene that has multiple phenotypic effects is an example of _____ inheritance.
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What is the main purpose of a Punnett square?
What is the main purpose of a Punnett square?
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Incomplete dominance results in phenotypes that are simply a mix of parental traits.
Incomplete dominance results in phenotypes that are simply a mix of parental traits.
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What are polygenic traits?
What are polygenic traits?
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The _____ refers to the location of a gene on a chromosome.
The _____ refers to the location of a gene on a chromosome.
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What is the effect of the addition rule in genetics?
What is the effect of the addition rule in genetics?
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Match the following processes with their descriptions:
Match the following processes with their descriptions:
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Which sex chromosomes are typically present in females?
Which sex chromosomes are typically present in females?
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Males only need two copies of a recessive trait to express it.
Males only need two copies of a recessive trait to express it.
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What is the primary cause of Down syndrome?
What is the primary cause of Down syndrome?
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The condition where an organism has an abnormal number of chromosomes is known as ______.
The condition where an organism has an abnormal number of chromosomes is known as ______.
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Match the following chromosomal abnormalities with their descriptions:
Match the following chromosomal abnormalities with their descriptions:
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What role did Thomas Morgan play in genetics?
What role did Thomas Morgan play in genetics?
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Linked genes are less likely to be inherited together compared to genes that are far apart on the same chromosome.
Linked genes are less likely to be inherited together compared to genes that are far apart on the same chromosome.
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What is hemizygous?
What is hemizygous?
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A person who carries a genetic mutation but does not express the associated condition is known as a ______.
A person who carries a genetic mutation but does not express the associated condition is known as a ______.
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Match the following scientists with their contributions to genetics:
Match the following scientists with their contributions to genetics:
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What is a common symptom of Turner Syndrome?
What is a common symptom of Turner Syndrome?
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What is the role of DNA polymerase in DNA replication?
What is the role of DNA polymerase in DNA replication?
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Chromosomal alterations can include deletions and duplications.
Chromosomal alterations can include deletions and duplications.
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The leading strand is synthesized in pieces known as Okazaki fragments.
The leading strand is synthesized in pieces known as Okazaki fragments.
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What is trisomy?
What is trisomy?
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The wild type notation for red eyes in fruit flies is ______.
The wild type notation for red eyes in fruit flies is ______.
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What are the three main components involved in protein synthesis?
What are the three main components involved in protein synthesis?
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During transcription, RNA polymerase synthesizes RNA from a _____ template.
During transcription, RNA polymerase synthesizes RNA from a _____ template.
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Match the following enzymes with their functions:
Match the following enzymes with their functions:
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What is the start codon for protein synthesis?
What is the start codon for protein synthesis?
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In eukaryotes, transcription and translation occur simultaneously in the nucleus.
In eukaryotes, transcription and translation occur simultaneously in the nucleus.
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What type of RNA carries genetic information from DNA to the ribosomes?
What type of RNA carries genetic information from DNA to the ribosomes?
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Okazaki fragments are characteristic of the _____ strand during DNA replication.
Okazaki fragments are characteristic of the _____ strand during DNA replication.
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Match the following processes with their respective definitions:
Match the following processes with their respective definitions:
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Which of the following statements about mRNA is correct?
Which of the following statements about mRNA is correct?
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DNA mutations can have large impacts on an organism's traits.
DNA mutations can have large impacts on an organism's traits.
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Name one type of mutation and describe it briefly.
Name one type of mutation and describe it briefly.
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The half-life of human mRNA is approximately _____ hours.
The half-life of human mRNA is approximately _____ hours.
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Which of the following correctly describes homologous chromosomes?
Which of the following correctly describes homologous chromosomes?
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What is the role of centromeres during mitosis?
What is the role of centromeres during mitosis?
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In __________, a single cell divides to produce two genetically identical daughter cells.
In __________, a single cell divides to produce two genetically identical daughter cells.
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Match the following phases of the cell cycle with their primary purposes:
Match the following phases of the cell cycle with their primary purposes:
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Sister chromatids are different from homologous chromosomes.
Sister chromatids are different from homologous chromosomes.
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What are gametes and how do they differ from somatic cells?
What are gametes and how do they differ from somatic cells?
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What is produced at the end of meiosis?
What is produced at the end of meiosis?
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Sister chromatids are separated during anaphase I of meiosis.
Sister chromatids are separated during anaphase I of meiosis.
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What type of cell division do somatic cells primarily undergo?
What type of cell division do somatic cells primarily undergo?
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The process of homologous chromosomes pairing up is known as __________.
The process of homologous chromosomes pairing up is known as __________.
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What are the sex chromosomes for typical females?
What are the sex chromosomes for typical females?
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Match the following stages of mitosis with their descriptions:
Match the following stages of mitosis with their descriptions:
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All genes are located on the X and Y chromosomes.
All genes are located on the X and Y chromosomes.
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Which of the following describes crossing over?
Which of the following describes crossing over?
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Which term describes the failure of homologous chromosomes to separate during meiosis?
Which term describes the failure of homologous chromosomes to separate during meiosis?
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Meiosis results in identical daughter cells.
Meiosis results in identical daughter cells.
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Klinefelter syndrome is characterized by the presence of an extra ______ chromosome in males.
Klinefelter syndrome is characterized by the presence of an extra ______ chromosome in males.
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Match the chromosomal alterations with their definitions:
Match the chromosomal alterations with their definitions:
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What is the role of the centrosome during cell division?
What is the role of the centrosome during cell division?
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During _________________, chromosomes line up double stacked in homologous pairs.
During _________________, chromosomes line up double stacked in homologous pairs.
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Which syndrome is characterized by a person with one X chromosome?
Which syndrome is characterized by a person with one X chromosome?
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What occurs after the sperm enters the secondary oocyte?
What occurs after the sperm enters the secondary oocyte?
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Individuals with Turner Syndrome are typically male.
Individuals with Turner Syndrome are typically male.
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The acrosomal reaction occurs after the fertilization envelope is formed.
The acrosomal reaction occurs after the fertilization envelope is formed.
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What is the primary genetic material that transmits traits between bacteria?
What is the primary genetic material that transmits traits between bacteria?
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What is an example of asexual reproduction?
What is an example of asexual reproduction?
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Independent assortment refers to the random distribution of chromosomes during gamete formation.
Independent assortment refers to the random distribution of chromosomes during gamete formation.
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What is the term for the hollow sphere of cells formed during embryonic development?
What is the term for the hollow sphere of cells formed during embryonic development?
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The wild type for fruit fly eye color is _____ eyes.
The wild type for fruit fly eye color is _____ eyes.
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In Mendel's experiments, the P generation consisted of _____ plants.
In Mendel's experiments, the P generation consisted of _____ plants.
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What is a common outcome of trisomy 21?
What is a common outcome of trisomy 21?
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What is the result of spermatogenesis?
What is the result of spermatogenesis?
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The X chromosome can contain dominant or recessive genes.
The X chromosome can contain dominant or recessive genes.
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During telophase II, we end up with __________ cells.
During telophase II, we end up with __________ cells.
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Which type of fertilization involves the male depositing sperm inside the female's reproductive tract?
Which type of fertilization involves the male depositing sperm inside the female's reproductive tract?
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Who was the scientist that studied Drosophila melanogaster to understand inheritance patterns?
Who was the scientist that studied Drosophila melanogaster to understand inheritance patterns?
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What does Mendel's law of independent assortment state?
What does Mendel's law of independent assortment state?
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An individual requires one copy of a recessive allele for it to be expressed.
An individual requires one copy of a recessive allele for it to be expressed.
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The ______ is the genetic condition resulting from deletion on chromosome 5.
The ______ is the genetic condition resulting from deletion on chromosome 5.
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Match the following syndromes with their genetic characteristics:
Match the following syndromes with their genetic characteristics:
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What is the common phenotypic ratio observed in Mendel's F2 generation for single-trait crosses?
What is the common phenotypic ratio observed in Mendel's F2 generation for single-trait crosses?
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The process where one gene affects the expression of another gene is called ______.
The process where one gene affects the expression of another gene is called ______.
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Match the following types of dominance with their definitions:
Match the following types of dominance with their definitions:
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What is the outcome of the sperm acrosomal reaction?
What is the outcome of the sperm acrosomal reaction?
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Polygenic inheritance means that multiple genes influence multiple traits.
Polygenic inheritance means that multiple genes influence multiple traits.
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What type of alleles are represented by uppercase letters?
What type of alleles are represented by uppercase letters?
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The central part of a chromosome that holds sister chromatids together is called the ______.
The central part of a chromosome that holds sister chromatids together is called the ______.
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What term describes the observable expression of genes in an individual?
What term describes the observable expression of genes in an individual?
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What is the first enzyme involved in DNA replication that unwinds the DNA strands?
What is the first enzyme involved in DNA replication that unwinds the DNA strands?
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The leading strand of DNA is formed continuously.
The leading strand of DNA is formed continuously.
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What is the role of RNA polymerase in transcription?
What is the role of RNA polymerase in transcription?
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The ______ are the sequences in mRNA that actually code for proteins.
The ______ are the sequences in mRNA that actually code for proteins.
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Which of the following sequences signals the start of protein synthesis?
Which of the following sequences signals the start of protein synthesis?
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Mutations can have no impact or a significant impact on an organism's DNA.
Mutations can have no impact or a significant impact on an organism's DNA.
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What is unique about the process of transcription in prokaryotes compared to eukaryotes?
What is unique about the process of transcription in prokaryotes compared to eukaryotes?
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The enzyme that seals gaps between Okazaki fragments on the lagging strand is called ______.
The enzyme that seals gaps between Okazaki fragments on the lagging strand is called ______.
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Match the enzyme to its function in the DNA replication process.
Match the enzyme to its function in the DNA replication process.
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What structure begins the process of replication?
What structure begins the process of replication?
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The codon sequence in RNA is made up of three nucleotides that correspond to an amino acid.
The codon sequence in RNA is made up of three nucleotides that correspond to an amino acid.
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What are the stop codons in the genetic code?
What are the stop codons in the genetic code?
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Which type of mutation involves swapping one nucleotide for another?
Which type of mutation involves swapping one nucleotide for another?
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During the elongation phase of translation, ______ brings in amino acids to the ribosome.
During the elongation phase of translation, ______ brings in amino acids to the ribosome.
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What is the term for the editing step that occurs between transcription and translation in eukaryotes?
What is the term for the editing step that occurs between transcription and translation in eukaryotes?
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Study Notes
Cell Cycle & Mitosis
- Chromatin: DNA wrapped around histone proteins
- Sister chromatids: Two identical copies of a chromosome in a dividing cell
- Homologous chromosomes (homologs): Chromosomes of the same size and shape from different parents, carrying the same genes but potentially different alleles
- Haploid (1n): Half the number of chromosomes (gametes)
- Diploid (2n): Full number of chromosomes (somatic cells)
Interphase
- Centrosomes/centrioles: Present, produce spindle fibers
- Chromatin: Loose, not visible
- Nuclear envelope: Intact
- G1 (Gap 1): Cell growth, organelle duplication, chromosome building blocks, centromere production, energy storage
- S (Synthesis): DNA replication (2 sister chromatids), attached to centromeres, centrosome duplication
- G2 (Gap 2): Energy storage, organelle duplication, protein synthesis for chromosome manipulation, cytoskeleton disassembly
- Result of interphase: 2 copies of DNA, organelles, stored energy, ready proteins
Mitosis
- Purpose: Cell division in embryos, fetuses, juveniles, and to replace cells in adults
- Daughter cells: Genetically identical to the parent cell
- External control: Hormones or growth factors stimulate cell division, binding to receptors, relaying signals
- Centromere: Bond holding sister chromatids
- Gametes: Reproductive cells (haploid), created via meiosis.
- Zygote: Single fused cell (diploid)
- Cleavage: Cell division in animal cells
Mitosis Phases
- Prophase: Centrosome duplication and movement, spindle fiber formation, chromatin condensation
- Prometaphase: Spindle fibers attach to centromeres, chromosome shortening and thickening
- Metaphase: Metaphase plate formation, chromosomes line up at metaphase plate, attached to spindle fibers
- Anaphase: Sister chromatids split and move to opposite poles, becoming daughter chromosomes
- Telophase: Chromosomes arrive at poles, become chromatin again, spindle disappears, two daughter nuclei form
- Cytokinesis: Cytoplasm division, creating 2 daughter cells
Meiosis
- Purpose: Produce 4 non-identical haploid cells (gametes)
- Occurs: After G2 phase and before M phase
- Genetic mixing/recombination: Increases DNA variety in future offspring
- Somatic cells: Non-reproductive cells, divide only by mitosis
- Gametes: Reproductive cells (haploid)
- Nuclear envelope: Double membrane enclosing the nucleus, separating genetic material from cytoplasm
- Centrosome: Organelle organizing microtubules, involved in chromosome separation
- Centrioles: Tiny structures within the centrosome
- Spindle fibers: Protein structures separating genetic material during cell division
- Synapsis: Pairing of homologous chromosomes
- Tetrad: Set of 4 chromatids
- Crossing over: Genetic recombination
- Metaphase plate: Imaginary line where chromosomes align during metaphase I and II
- Centromere: Central section binding sister chromatids
- Kinetochore: Proteins within centromere holding chromosomes together
Meiosis I
- Prophase I: Chromatin condenses; nuclear envelope, homologous chromosomes synapse (tetrads), crossing over
- Metaphase I: Tetrads align at metaphase plate, spindle microtubules attach, independent assortment
- Anaphase I: Homologous chromosomes separated to opposite sides
- Telophase I: Chromosomes move towards poles, cell begins to divide, 2 non-identical haploid cells
- Prophase II: Nuclear envelope dissolves, new spindle fibers form, centrosomes move to poles
- Metaphase II: Chromosomes (single file) align at metaphase plate, spindle fibers attach
- Anaphase II: Sister chromatids separate, pulled to opposite poles
- Telophase II: Distinct nuclei form, 4 haploid non-identical cells
Animal Reproduction
- Asexual: No fusion of gametes, usually mitosis, e.g., budding, fission, fragmentation, parthenogenesis
- Sexual: Fusion of sperm and egg, involves fertilization (sperm + egg → zygote), meiosis & fertilization, traditional (1F, 1M), sex reversal, hermaphroditism
- Internal fertilization: Male deposits sperm inside/near female reproductive tract
- External fertilization: Female & male deposit gametes into water
- Chemical signals: Hormones (communicate within individual), pheromones (communicate between individuals).
Gametogenesis
- Male: Spermatogonial stem cell (2n) → Spermatogonium (2n)→ Primary spermatocyte(2n) → Secondary spermatocyte(1n) → Early spermatid(1n) → Sperm cell(1n)
- Female: Oogonium (2n) → Primary oocyte (2n) (arrested in meiosis I)→ Secondary oocyte (1n) plus polar body(1n) →Fertilized egg (zygote) (2n)- arrested in metaphase II until fertilization
Embryonic Development
- Fertilization: Forms zygote
- Cleavage: Zygote → Blastula (hollow sphere)
- Gastrulation: Blastula → Gastrula (blastopore, digestive tract formation)
- Organogenesis: Organs begin to form
Mendel & Genetics
- Gene: Segment of DNA coding for a protein
- Genome: All an organisms genes
- Allele: Alternative versions of a gene
- Gene locus: Particular gene location on a chromosome
- Trait: Variant of a character (e.g., blue eyes)
- Character: Heritable feature varying among individuals
- Phenotype: Observable trait determined by gene combinations
- Gregor Mendel: Father of genetics, studied pea plants
- True-breeding plants: Bred only for one trait, P generation.
- F1 generation: Offspring of P generation cross, dominant expressed
- F2 generation: Offspring from F1 cross, 3:1 ratio (dominant: recessive)
- Mendel's Model: Alleles, homologous chromosomes, dominance/recessiveness, law of segregation (alleles separate), and independent assortment (different genes independent).
Punnett Squares
- Diagram predicting offspring genotypes
- Used with more than one trait, calculate probabilities (addition/multiplication rules), determine heterozygous likelihood
Incomplete Dominance & Codominance
- Incomplete dominance: Phenotype intermediate between dominant alleles.
- Codominance: Both dominant alleles expressed.
Pleiotropy & Polygenic Inheritance
- Pleiotropy: One gene → multiple traits.
- Polygenic inheritance: Multiple genes → one trait.
Epistasis
- Epistasis: One gene effects expression of another gene
Sex-linked Traits & Sex Chromosomes
- Sex chromosomes: X and Y
- XX: Female; XY: Male
- X-linked genes: Dominant/recessive
- Hemizygous: Having only one copy of a gene (common for males & Y chromosome genes)
- Carrier: Person carrying a genetic difference without expressing it
- Thomas Morgan: Studied Drosophila melanogaster (fruit flies) to understand inheritance
- Wild type: Most common trait observed in nature
Chromosome Theory of Inheritance
- Genes on chromosomes, their behavior during meiosis explains inheritance
- Linked genes: Genes closer on same chromosome more likely to be inherited together.
- Gene distance related to recombination rates
Chromosomal Abnormalities
- Nondisjunction: Failure of chromosome separation during meiosis
- Aneuploidy: Abnormal number of chromosomes, e.g., monosomic, trisomic
- Trisomy 21 (Down syndrome): Trisomic condition affecting chromosome 21
- Sex-linked abnormalities: Klinefelter (XXY), XYY, trisomy X, Turner (XO), Swyer syndrome
Alterations to Chromosomal Structure
- Deletion: Removal
- Duplication: Repeating
- Inversion: Reversing
- Translocation: Non-homologous chromosome swapping.
Disorders from Chromosomal Alterations:
- Cri du chat syndrome: Chromosome 5 deletion (distinct symptoms & outcomes)
- Chronic myelogenous leukemia (CML): Reciprocal translocation causing uncontrollable cell division
Molecular Basis of Inheritance
- DNA as genetic material: Identified through experiments (Griffith, Avery-MacLeod-McCarty, Hershey-Chase)
- Watson & Crick: Double helix structure.
- DNA replication: Semi-conservative, using existing strands as templates, specific enzymes involved (helicase, topoisomerase, primase, DNA polymerase, ligase)
- Steps: unwinding, preventing supercoiling, priming, copying, gluing.
- Leading/Lagging strands: Continuous & discontinuous strands, Okazaki fragments
Transcription and Translation
- Transcription: Copying DNA to RNA (RNA polymerase)
- Post-transcriptional modification (eukaryotes): Introns removed, exons joined
- Translation: RNA to protein (using ribosomes, tRNA, codons)
- mRNA: Messenger RNA, carries genetic code to ribosomes
- tRNA: Transfer RNA, carries amino acids to ribosomes
- Codons: Three nucleotide sequences coding for amino acids
- Start/stop codons: Indicate beginning/end of protein synthesis,
- Ribosomes made of rRNA, crucial to translation process
- Initiation: mRNA attachment to small subunit, start codon search & large subunit binding
- Elongation: tRNA brings amino acid, polypeptide chain growth
- Termination: Stop codon reached, polypeptide release
- Prokaryotes: Transcription & translation simultaneous in cytoplasm
Mutations
- Mutation types: Insertion, deletion, substitution, point mutations, frameshift
- Effects of mutations: Silent, missense, nonsense, impact polypeptide sequence, may lead to different traits
- Causes: UV radiation, replication errors, chemicals
- Mutation correction: Proofreading, mismatch repair, nucleotide excision repair.
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