Genetic Control & Histone Modification
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Questions and Answers

In cats, the calico coloration pattern is linked to X-linked pigment genes, while in humans, it's not. What accounts for this difference?

  • Cats have two X chromosomes, both of which can express different pigment alleles in the same cell, whereas human females inactivate one X chromosome.
  • The process of X-chromosome inactivation occurs in cats but not in humans, leading to random expression of pigment alleles.
  • Humans possess modifier genes that suppress the calico phenotype, whereas cats lack these genes.
  • The pigmentation genes in humans are located on autosomes, not on the X chromosome, while in cats, these genes are X-linked. (correct)

Histone modifications, such as acetylation and phosphorylation, influence DNA binding. How do these modifications affect the interaction between histones and DNA?

  • Acetylation and phosphorylation alter the conformation of DNA, making it more accessible to histones.
  • Acetylation increases the positive charge of histones, strengthening their interaction with negatively charged DNA.
  • Phosphorylation decreases the negative charge of DNA, leading to weaker interactions with histones.
  • Acetylation neutralizes the positive charge of histones, reducing their affinity for DNA; phosphorylation introduces negative charges, potentially repelling DNA. (correct)

Histone modifications are often found on the N-terminal tails. What is the primary function of the histone N-terminal tail?

  • Serving as a binding site for other histone proteins within the nucleosome
  • Interacting with linker DNA between nucleosomes and influencing chromatin compaction (correct)
  • Initiating DNA replication by recruiting replication factors to specific sites on the DNA
  • Supporting structural stability of the nucleosome core particle

If histone acetylation leads to looser DNA packaging and increased transcriptional activity, what would be the likely effect of inhibiting histone deacetylases (HDACs)?

<p>Decreased DNA accessibility and reduced transcriptional activity. (B)</p> Signup and view all the answers

How do enzymes that add or remove chemical groups to/from amino acid residues in the histone tails play a crucial role in gene expression?

<p>By changing the binding affinity of transcription factors to the DNA, either enhancing or inhibiting gene expression. (C)</p> Signup and view all the answers

Which of the following best describes the histone code?

<p>The pattern of modifications on histone tails that influences chromatin properties. (A)</p> Signup and view all the answers

How does acetylation of histone tails typically affect DNA?

<p>It loosens DNA structure, potentially activating gene transcription. (A)</p> Signup and view all the answers

What is the primary function of histone deacetylases?

<p>To remove acetyl groups from histone tails, leading to gene silencing. (D)</p> Signup and view all the answers

Which of the following modifications is most closely associated with the formation of heterochromatin?

<p>Histone methylation. (B)</p> Signup and view all the answers

If a mutation prevents a cell from methylating its histones, what is the most likely outcome?

<p>Reduced formation of heterochromatin and potential activation of silenced genes. (B)</p> Signup and view all the answers

A researcher is studying a gene that is highly expressed in one tissue type but completely silent in another. Which epigenetic mechanism is most likely responsible for this difference?

<p>Differential patterns of histone modification, such as acetylation and methylation. (A)</p> Signup and view all the answers

Which of the following scenarios would result in the LEAST amount of transcriptional activity?

<p>Methylation of histones near the promoter region of a gene. (A)</p> Signup and view all the answers

A drug that inhibits histone deacetylases (HDACs) is introduced to cells. What is the most likely effect on gene expression?

<p>An overall increase in gene expression due to increased histone acetylation. (D)</p> Signup and view all the answers

Which histone modification generally leads to transcriptional activation by opening up the DNA structure?

<p>Acetylation (A)</p> Signup and view all the answers

Histone deacetylases (HDACs) are associated with which of the following processes?

<p>Decreased gene expression (D)</p> Signup and view all the answers

Methylation of histone tails is typically associated with what?

<p>Gene silencing (B)</p> Signup and view all the answers

What is the direct effect of histone acetylation on chromatin structure?

<p>Relaxation of chromatin (C)</p> Signup and view all the answers

During which process is phosphorylation of histones primarily observed?

<p>Cell division (D)</p> Signup and view all the answers

What role does Histone H1 play in nucleosome compaction?

<p>Stabilizes and compacts the nucleosome structure. (B)</p> Signup and view all the answers

A mutation inhibits histone acetyltransferase (HAT) activity in a cell. What is the most likely outcome?

<p>Decreased gene transcription (B)</p> Signup and view all the answers

Which of the following modifications is most likely to result in the formation of heterochromatin?

<p>Histone methylation (A)</p> Signup and view all the answers

How does acetylation affect the accessibility of DNA to RNA polymerases?

<p>Acetylation increases DNA accessibility. (B)</p> Signup and view all the answers

If a drug inhibits histone phosphorylation during cell division, what is the most likely consequence?

<p>Cell cycle arrest or abnormalities in chromosome segregation (A)</p> Signup and view all the answers

Which of the following best describes the immediate effect of a drug that inhibits new transcription on gene expression?

<p>Decreased production of proteins whose mRNA has a short half-life. (C)</p> Signup and view all the answers

How does phosphorylation typically regulate H1 histone function within chromatin structure?

<p>It modifies the N and C terminal tails, altering chromatin compaction. (C)</p> Signup and view all the answers

What is the expected outcome on gene expression when a deacetylase removes acetyl groups from H4 histones?

<p>Decreased gene transcription due to chromatin condensation. (C)</p> Signup and view all the answers

How does the methylation of CpG islands typically affect gene expression in eukaryotes?

<p>It silences gene expression by recruiting proteins that condense chromatin. (A)</p> Signup and view all the answers

What effect do you expect on gene expression if an inversion moves a gene from a euchromatic region to a heterochromatic region?

<p>The gene's expression will decrease due to reduced accessibility. (C)</p> Signup and view all the answers

A researcher observes that a particular gene is more actively transcribed in liver cells compared to brain cells. Which of the following chromatin states is most likely to be observed at this gene's location in liver cells, compared to brain cells?

<p>Decreased DNA methylation and increased histone acetylation. (A)</p> Signup and view all the answers

Which of the following is a characteristic of facultative heterochromatin but NOT constitutive heterochromatin?

<p>It can be decondensed and become transcriptionally active under certain conditions. (C)</p> Signup and view all the answers

What is the primary purpose of chromosome decondensation during interphase?

<p>To allow for efficient DNA replication and transcription. (B)</p> Signup and view all the answers

What is the primary characteristic of constitutive heterochromatin?

<p>It is composed mainly of repeated DNA sequences with few genes. (A)</p> Signup and view all the answers

What is the 'position effect' related to heterochromatin?

<p>The transcriptional silencing of genes when they are moved close to constitutive heterochromatin. (A)</p> Signup and view all the answers

What is the role of barrier sequences in the genome?

<p>To block the spread of heterochromatin, preventing it from affecting nearby genes. (A)</p> Signup and view all the answers

What is a key difference between constitutive and facultative heterochromatin?

<p>Facultative heterochromatin can be active or inactive depending on the cell type or developmental stage, while constitutive heterochromatin is generally inactive. (C)</p> Signup and view all the answers

What is the purpose of X chromosome inactivation in mammals?

<p>To equalize the number of active X chromosomes between males and females. (A)</p> Signup and view all the answers

What is a Barr body?

<p>A highly condensed, inactive X chromosome in female somatic cells. (A)</p> Signup and view all the answers

According to the Lyon hypothesis, when does X chromosome inactivation occur?

<p>During early embryonic development. (D)</p> Signup and view all the answers

During interphase, which characteristic distinguishes euchromatin from heterochromatin?

<p>Euchromatin is less compacted and more accessible to transcription enzymes. (D)</p> Signup and view all the answers

Why are adult mammalian females considered genetic mosaics with respect to X-linked genes?

<p>Because different cells inactivate different X chromosomes, leading to different alleles being expressed. (B)</p> Signup and view all the answers

If a gene located in a region of heterochromatin is moved to a region of euchromatin, what is a likely outcome?

<p>The gene is more likely to be transcribed. (A)</p> Signup and view all the answers

Which of the following is a key difference between constitutive and facultative heterochromatin?

<p>Constitutive heterochromatin remains condensed in all cells at all times, while facultative heterochromatin can be decondensed and activated in certain cell types or developmental stages. (C)</p> Signup and view all the answers

What happens to the heterochromatized X chromosome in germ cells before meiosis?

<p>It is reactivated, so both X chromosomes are active during oogenesis. (B)</p> Signup and view all the answers

What is the primary function of heterochromatin located at the telomeres of chromosomes?

<p>To protect the ends of chromosomes from degradation and fusion. (D)</p> Signup and view all the answers

In a female with three X chromosomes, how many Barr bodies would be present in her somatic cells, assuming normal X-inactivation?

<p>2 (D)</p> Signup and view all the answers

DNA methylation is associated with which type of chromatin and gene expression state?

<p>Heterochromatin and silenced gene expression (B)</p> Signup and view all the answers

Which of the following statements accurately describes the randomness of X-inactivation?

<p>Either the paternally- or maternally-derived X chromosome can be inactivated in any given cell. (D)</p> Signup and view all the answers

How do the replication timing differ between heterochromatin and euchromatin during the cell cycle?

<p>Heterochromatin replicates later in S phase than euchromatin. (A)</p> Signup and view all the answers

What occurs after an X chromosome is inactivated in a cell?

<p>The same X chromosome remains inactivated in all descendants of that cell. (B)</p> Signup and view all the answers

Telomeres in many plants are composed of?

<p>Blocks of constitutive heterochromatin (D)</p> Signup and view all the answers

Imagine a cell where a mutation prevents the formation of heterochromatin. What would be the most likely consequence?

<p>Activation of normally silenced genes and potential genomic instability. (B)</p> Signup and view all the answers

A researcher is studying a gene that is expressed during embryonic development but silenced in adult cells. Which type of chromatin modification is most likely responsible for this silencing?

<p>Facultative heterochromatin formation (B)</p> Signup and view all the answers

A gene normally located in euchromatin is moved to a position near heterochromatin due to chromosomal translocation. What is the likely outcome?

<p>Transcriptional silencing of the gene due to the position effect. (B)</p> Signup and view all the answers

In calico cats, the different colors are due to?

<p>Different alleles functioning in different cells (D)</p> Signup and view all the answers

What characteristic of constitutive heterochromatin makes it useful in maintaining genome stability?

<p>Its presence at centromeres is important for proper chromosome segregation during cell division. (A)</p> Signup and view all the answers

If a drug prevents DNA methylation, what is the most likely effect on genes within heterochromatic regions?

<p>The genes are more likely to be transcribed. (A)</p> Signup and view all the answers

Which of the following best describes the structural organization of interphase chromosomes regarding heterochromatin and euchromatin?

<p>Interphase chromosomes contain a mix of heterochromatin and euchromatin, allowing for regulation of gene expression. (B)</p> Signup and view all the answers

How might changes in heterochromatin structure contribute to the aging process?

<p>Increased heterochromatin formation may lead to the silencing of genes required for cellular maintenance and repair. (B)</p> Signup and view all the answers

A scientist discovers a mutation that disrupts the boundary between a heterochromatic region and a euchromatic region. What is the most likely consequence?

<p>Silencing of genes in the neighboring euchromatic region. (D)</p> Signup and view all the answers

Which of the following mechanisms is NOT directly involved in the formation or maintenance of heterochromatin?

<p>Telomere shortening (B)</p> Signup and view all the answers

In a study comparing the genomes of different cell types within the same organism, what would you expect to find regarding heterochromatin distribution?

<p>The distribution of constitutive heterochromatin would be similar, while facultative heterochromatin would vary depending on the cell type. (C)</p> Signup and view all the answers

Flashcards

Why are there no calico women?

X-linked pigment genes cause calico patterns in cats. Humans don't have these pigment genes on the X chromosome.

Histone Modifications

Post-translational modifications to histone tails by enzymes, involving adding or removing chemical groups.

Strong Histone Interaction

If the interaction is very strong, the DNA is compacted and there is no activity.

Weak Histone Interaction

If the interaction is less, the DNA is less compacted with open and more activity.

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Histone Acetylation & Phosphorylation

Histones can be acetylated and phosphorylated, which alters their ability to bind to DNA.

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Chromatid Separation

During cell division, each chromosome's chromatids are separated into two daughter cells.

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Heterochromatin

The form of chromatin that remains highly compacted during interphase.

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Euchromatin

The form of chromatin that returns to a dispersed state after each mitosis.

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Heterochromatin Characteristics

Areas of chromatin that are highly condensed and generally inaccessible to transcription enzymes.

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Euchromatin Characteristics

Areas of chromatin that are less compacted and accessible to transcription enzymes, allowing gene expression.

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Heterochromatin Staining

Heterochromatin stains darkly due to its dense packing.

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Euchromatin Staining

Euchromatin stains lightly due to its less compact structure.

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Heterochromatin Sequences

Heterochromatin contains repetitive DNA sequences.

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Euchromatin Sequences

Euchromatin contains single-copy sequences (genes) each for a specific gene.

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Heterochromatin Replication Timing

Heterochromatin replicates later in the cell cycle.

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Euchromatin Replication Timing

Euchromatin replicates early in the cell cycle.

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Heterochromatin Methylation

Heterochromatin is DNA hypermethylated, which silences gene expression.

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Euchromatin Methylation

Euchromatin is DNA hypomethylated.

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Heterochromatin Recombination

Heterochromatin shows little or no recombination.

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Euchromatin Activity

Euchromatin is transcriptionally active and permissive for gene expression.

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Histone Modification Impact

Modifications to histone tails influence gene expression and chromatin functions.

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Chromatin State Factors

The state and activity of chromatin depend on specific histone tail modifications.

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Histone Code

Patterns of histone tail modifications encode information that governs nucleosome properties.

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Histone Modification Effects

Histone modification patterns affect both chromatin compaction and gene transcription likelihood.

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Histone Tail Modification

Chemical modifications to histone tails alter nucleosome shape, changing DNA access.

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Acetylation vs. Methylation

Acetylation generally activates DNA, while methylation tends to inactivate it.

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Methylation and Heterochromatin

Methylation compacts DNA, making it more silent creating heterochromatin.

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Heterochromatin Formation

Histone modification can silence DNA, leading to the formation of heterochromatin.

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Telomeres

DNA regions at the ends of chromosomes, often containing repeated sequences and constitutive heterochromatin.

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Constitutive Heterochromatin

Heterochromatin that always stays condensed and plays structural roles.

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Position Effect

When active genes are silenced due to their proximity to heterochromatin.

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Barrier Sequences

Specialized DNA sequences that block the spread of heterochromatin.

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Facultative Heterochromatin

Heterochromatin that can be active or inactive depending on the cell type or stage.

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Barr Body

An inactivated X chromosome in female mammals, appearing as a condensed body.

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X-chromosome Inactivation

Process where one X chromosome in female mammals is inactivated to equalize gene dosage.

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Lyon Hypothesis

The hypothesis that X-inactivation occurs randomly during early development.

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X Chromosome Reactivation

The X chromosome is reactivated in germ cells before meiosis.

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Random X-inactivation

Heterochromatization in the embryo is a random process, with paternal or maternal chromosomes inactivated.

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Stable X-inactivation

Once an X chromosome is inactivated, the same X chromosome is inactivated in all of that cell’s descendants.

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Genetic Mosaics

Adult mammalian females with different alleles functioning in different cells.

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X-linked Coat Color Genes

Genes responsible for coat color are carried on the X chromosome

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Allelic Diversity

Consequence of X-inactivation where paternal & maternal X chromosomes may have different alleles for same trait.

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H1 Histone Function

Inhibits the creation of new mRNA by blocking new transcription.

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H1 Regulation

Regulated by the addition of phosphate groups on its N and C terminal tails.

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Histone/DNA Modifications

Direct the formation of heterochromatin, influencing gene silencing.

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Histone Deacetylation

Removes acetyl groups from histones, leading to gene silencing.

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DNA Methylation

Addition of methyl groups to CpG islands silences genes.

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H3 Methylation

Addition of methyl groups to histone H3.

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Chromosome Condensation

Condensed state of chromosomes during cell division.

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Histone Acetyltransferases (HATs)

Enzymes that add acetyl groups to histone tails, typically leading to increased gene expression.

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Histone Deacetylases (HDACs)

Enzymes that remove acetyl groups from histone tails, often resulting in decreased gene expression.

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Histone Methylation

Typically leads to gene silencing or inactivation by condensing chromatin structure.

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Histone Phosphorylation

Histone phosphorylation plays a role in chromosome condensation during cell division.

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HATs and Gene Activation

HATs are components of transcriptional activation complexes that can open a silent gene.

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Acetylation and DNA Accessibility

Acetylation will cause the nucleosome position and shape to change, causing the DNA to become more open.

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Histone H1 Function

Histone H1 binds to the nucleosome and promotes compaction of the DNA.

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Study Notes

Heterochromatin and Euchromatin

  • Session Learning Outcomes include describing chromatin packing changes during the cell cycle
  • Distinguishing between heterochromatin and euchromatin
  • Describing X-inactivation in mammals and explaining its function.

Chromosomes

  • Interphase chromosome DNA is dispersed, allowing replication and transcription access.
  • Mitotic chromosome DNA is in a condensed state
  • Mitotic chromosomal state is best for delivering an intact DNA package to each new daughter cell.
  • During mitosis each chromosome separates into two chromatids, with one chromatid for each daughter cell.

Chromatin Types

  • Different forms of chromatin show different gene activity

Heterochromatin

  • Remains compacted during interphase
  • Stains darkly
  • Non-active chromatin

Euchromatin

  • Returns to a dispersed state after mitosis
  • Stains lightly
  • Less packed
  • Active Chromatin.

Interphase Chromosomes

  • Interphase chromosomes consist of heterochromatin and euchromatin

Heterochromatin Characteristics

  • Areas are highly condensed
  • Inaccessible to transcription enzymes
  • Consists of silent genes

Euchromatin Characteristics

  • Areas are less compacted
  • Accessible to transcription enzymes, leading to more activity

Heterochromatin vs. Euchromatin

  • Heterochromatin stains darkly, contains repetitive sequences, replicates later in the cell cycle, and has hypermethylated DNA
  • Transcriptionally repressive, silences gene expression
  • Localized to telomeres and regions flanking centromeres

Euchromatin Characteristics.

  • Stains lightly, contains single copy sequences (genes), replicates early in the cell cycle during the S phase, and has hypomethylated DNA.
  • Transcriptionally active and permissive for gene expression.
  • Telomeres at the end of the chromosome, are heterochromatin and can't be expressed to protect the chromosome.

Heterochromatin Classes

  • Heterochromatin is divided into two classes based on whether it is permanently or transiently compacted.

Facultative Heterochromatin

  • Sometimes active and sometimes inactive
  • Active in some cells, inactive in others
  • Specifically inactivated during certain phases of an organism's life or in certain types of differentiated cells.

Constitutive Heterochromatin

  • Always stays condensed in all cells
  • Permanently silenced DNA
  • Examples Telomeres and regions flanking centromeres

Constitutive Heterochromatin Details

  • Most common in mammalian cells in regions flanking centromeres
  • Found in a few other sites, such as the Y chromosome distal arm in males

Constitutive Heterochromatin Plants

  • Found in many plants, telomeres consist of blocks of constitutive heterochromatin

Constitutive Heterochromatin Sequences

  • Consists primarily of repeated DNA sequences with relatively few genes

Active Genes and Heterochromatin

  • Active genes move to a site adjacent to constitutive heterochromatin , change position via transposition or translocation and become transcriptionally silenced, this is a position effect
  • There may be components whose influence spreads, affecting nearby genes.
  • Specialized barrier sequences block the spread of heterochromatin along a chromosome.

White Gene Example

  • White gene at a normal location gives red eye cells, and has a barrier of heterochromatin

Barrier Function

  • Separates heterochromatin from euchromatin

Rare Chromosome Inversion

  • The gene is now close to heterochromatin without a barrier, so heterochromatin affects and silences the gene, resulting in white eye color.
  • The presence of the barrier prevents the effect of heterochromatin on the euchromatin

Yeast Cells

  • Wild type yeast cells will form white colonies

Ade2 Gene

  • At the normal telomere location allows yeast cells to produces a white colong

Ade2 at Telomere

  • The cell will express if normal

Ade2 moved near telomere

  • Results in a non-functioning gene and a mutated red colored colony develops
  • The change in color indicates silencing of the gene expression

Facultative Heterochromatin Definition

  • Example: X chromosome in mammals, where cells can be active or incative

Female/Male Cells

  • Female cells have two X chromosomes
  • Male cells have one X chromsome & one Y chromosome

Copies of Genes

  • Females have two copies of most genes on the X
  • Males have one copy on the X

Transcriptionally Active

  • Only one X is transcriptionally active

Barr Body

  • The second X condenses as a heterochromatic clump
  • The barr body ensures that cells of both males and females have the same number of active X chromosomes.

Barr Body Production

  • Cells synthesize equivalent amounts of products encoded by X-​linked genes. Thus, the difference in gene dosage does not change the phenotype/ health of the organism

X Chromosome Inactivation

  • Lyon hypothesis describes heterochromatization of X chromosomes in female mammals occurs during early embryonic development.
  • This results inactivation of genes on that chromosome

Heterochromatized X Activation

  • Heterochromatized X chromosome is reactivated in female germ cells before meiosis

Oocytes

  • All gametes get a euchromatic X chromosome

Lyon Hypothesis

  • Inactivation of the X chromosome happens in early embryo in a cell
  • ither the maternally or paternally derived X chromosome can be inactivated at random in any cell
  • Once an X chromosome inactivates it's the same down the chain

Mosaics Results

  • Can lead to genetic mosaics

Alleles -X Chromosomes

  • Patrernal and material X chromosomes may have different alleles for the same trait, genes encode pigments

Mammilian

  • Adult females are genetic messics can have different alleles that function in different body systems

Cats/Orange

  • The pigment coat color genes are tied in to the X sex chromosome- black cells in this region have the chromosome maternally
  • They will not have skin color in the same ways, you see the same
  • Males don't have skin like this, its one or the other for orange or black
  • X-linked pigment genes in domestic felines are called calico- pigment genes aren't on humans
  • no calico womem

The Histone Code

  • Interaction between hystone and DNA
  • Tails subject to transcriptional changes
  • Generate specific emzymes from amino acid acid residues
  • Acetylated and phosphoralated = binding of DNA. Also modify tails

Chromatin Functions

  • State, modification, and activity depends on the histone tails
  • Tail core modifications have the properties of governing characteristics

Interrelated Chromatin

  • Compactions which show regions of heterochromatin.
  • Likliehood of transcribed gene depends on this

Lysine

  • Chemical modification can change the shape of the structure

Gene Expression

  • Methyl/acetyl can alter shape of express genes.

Histone Deacetylase

  • It remove actly group

Histone Methylase

  • Adds methyl group to amino acid to create

Heteroshromatin silencing

  • Will transfer ethy groups onto a new nucleosides, protein H1 binds to get histone

HTA Regulatory Details

  • Covalent modification of histome tails
  • Histome Transferance, Aceyl
  • Can be modified ny Acetylation etc

Modif Stat Details

  • Depends on if its phosphorylated and how
  • Histone- the way that can translate modifications

Transcription Process

  • Modification of histome and regulation. Modification activates
  • Will transcription of the gene and binding.

H1 Compaction

  • The way histone modifies DNA
  • Binds inhibits new transcription
  • Phosphoralation by N tail
  • This causes new MRNA

Histones Code

  • Direct to DNA and modification happens
  • Translation breaks them down near the centrometer
  • The the gene will express new MRNA

Summary

  • Chromosomes are decondensed during interphase and visual
  • expression and loop condensation
  • Can catagorize hetero and eu
  • Is divided where it's innactive
  • This changes activity of genes

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Description

Explore X-linked genes in cats and humans. Learn how histone modifications like acetylation and phosphorylation affect DNA binding and gene expression. Understand the vital roles of histone N-terminal tails and histone deacetylases.

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