MBG: BLOCK 2: COMPREHENSIVE OVERVIEW

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Questions and Answers

Which segregation pattern results in all gametes being euploid?

Adjacent-2 segregation

3:1 segregation

Alternate segregation (correct)

Adjacent-1 segregation

What is a potential consequence of autosome-X chromosome translocations?

Balanced translocations always occur

Inactivation of critical X material (correct)

All genes are normally expressed

Complete viability of offspring

Which type of segregation is most prevalent during spermatogenesis?

Adjacent-2 segregation

4:0 segregation

3:1 segregation

Alternate segregation (correct)

What is the primary challenge presented during meiosis concerning chromosome alignment and segregation?

Increased likelihood of quadrivalents Signup and view all the answers

What is a characteristic of adjacent-2 segregation in meiosis?

Resulting in cells with derivative chromosomes Signup and view all the answers

How does age affect oogenesis regarding meiotic outcomes?

It introduces age-related effects Signup and view all the answers

Which segregation pattern is considered the least favorable during meiosis?

4:0 segregation Signup and view all the answers

What problem arises due to translocations involving acrocentric chromosomes during meiosis?

Improper chromosome alignment Signup and view all the answers

What is a frequent outcome of translocations involving sex chromosomes?

Infertility and embryonic lethality Signup and view all the answers

Which segregation pattern results in each daughter cell receiving two of the four chromosomes involved in a quadrivalent?

2:2 Segregation Signup and view all the answers

What is the inheritance risk associated with chromosome translocations?

Losses or gains in genetic material Signup and view all the answers

In which segregation pattern do homologous centromeres stay together during anaphase I?

Adjacent-2 Segregation Signup and view all the answers

What characterizes adjacent-1 segregation during meiosis?

Gametes contain duplications and deletions Signup and view all the answers

Which segregation pattern is likely to involve trisomies and monosomies?

3:1 Segregation Signup and view all the answers

What is a likely consequence of translocations involving the X chromosome?

Chromosomal instability Signup and view all the answers

Which of the following best describes the rarity associated with certain types of chromosome fusion?

Centric fusion is considered rare Signup and view all the answers

What is the maximum frequency of recombination between any two genes?

50% Signup and view all the answers

During which stage of meiosis do homologous chromosomes undergo crossing over?

Prophase I Signup and view all the answers

What occurs if nondisjunction happens during meiosis?

One cell receives too much genetic information. Signup and view all the answers

What is a function of chiasmata during meiosis?

They represent sites where crossing over occurs. Signup and view all the answers

What describes a 'hot spot' in the context of recombination?

A location where recombination is advantageous. Signup and view all the answers

What is the purpose of interkinesis in meiosis?

To access genes for the next phase of meiosis. Signup and view all the answers

What is the result of Telophase II in meiosis?

Chromosomes arrive at the poles and cells begin to divide. Signup and view all the answers

How does genetic material change from diploid to haploid in meiosis?

By separating homologous chromosomes during Anaphase I. Signup and view all the answers

Which type of chromosomal inversion is expected to have the centromere within the inversion loop?

Pericentric inversions Signup and view all the answers

What is characteristic of reciprocal translocations compared to Robertsonian translocations?

They involve the exchange of segments between non-homologous chromosomes. Signup and view all the answers

What defines balanced carriers in the context of chromosome translocations?

Individuals with no phenotypic effects due to chromosomal imbalance. Signup and view all the answers

Which segregation pattern is least likely to lead to viable gametes during meiosis involving translocations?

Adjacent-2 segregation Signup and view all the answers

When looking at translocations involving Robertsonian translocations, what phenotypic consideration is noteworthy?

They can lead to Down syndrome when involving chromosome 21. Signup and view all the answers

What happens during alternative segregation?

Both homologous centromeres are separated into different cells. Signup and view all the answers

What characterizes adjacent-1 segregation during meiosis?

Two copies of the same chromosome end up in one daughter cell. Signup and view all the answers

What is the outcome of adjacent-2 segregation?

Two homologous centromeres remain together in a single daughter cell. Signup and view all the answers

Which segregation pattern is associated with the formation of a quadrivalent?

Alternative segregation Signup and view all the answers

How does an isochromosome formation affect genetic material?

It results in duplications of genetic material from one arm of a chromosome. Signup and view all the answers

What are the expected offspring ratios when TY and ty are parental gametes?

TtYy, ttyy will be the majority Signup and view all the answers

Which genotype would be one of the rarer offspring from the parental combinations Ty and tY?

TtYy Signup and view all the answers

If a heterozygote produces gametes TY, Ty, tY, and ty, how will the offspring ratios differ in combinations of parental TY and ty versus Ty and tY?

Different combinations yield different majority genotypes Signup and view all the answers

What is the primary outcome when parental combinations are TtY and tty?

TtYy and ttyy are most prevalent Signup and view all the answers

Among the offspring produced when TY and ty are used as parental combinations, which genotype is least likely to occur?

ttYy Signup and view all the answers

What is the probability of obtaining a short phenotype from a cross of three offspring when considering the genotypes TT and Tt for tall?

27/64 Signup and view all the answers

In a binomial experiment with a success probability of 0.5, what is the probability of obtaining one success in two trials?

0.50 Signup and view all the answers

If two genes are unlinked, how would the potential gametes be formulated from an AaBb genotype?

AB, Ab, aB, ab Signup and view all the answers

What must be true about genes for them to be considered unlinked during a genetic cross?

They assort independently during gamete formation Signup and view all the answers

In a situation where two genes are linked in cis configuration, what gametes result if recombination does not occur?

Only two types: AaBb and Aabb Signup and view all the answers

Which is a primary characteristic of a binomial probability experiment?

Two mutually exclusive outcomes per trial Signup and view all the answers

What factors could influence the necessity for additional experimentation to support a hypothesis involving unlinked genes?

Evaluating expected offspring ratios Signup and view all the answers

When calculating probabilities in genetic crosses, which combination of successes and failures defines the binomial probability formula?

n!/(s!t!) * p^s * q^t Signup and view all the answers

What is the most common mechanism for the formation of a Robertsonian translocation?

Breaks occurring in both short arms Signup and view all the answers

What is the probability of forming a quadrivalent during meiosis linked to?

The genetic material exchanged Signup and view all the answers

Which meiotic outcome represents a situation where all gametes are euploid?

2:2 segregation Signup and view all the answers

Which type of segregation is characterized by homologous centromeres separating at anaphase I, leading to duplications and deletions in gametes?

Adjacent-1 segregation Signup and view all the answers

How does the occurrence of nondisjunction during meiosis usually affect the resulting gametes?

Leads to aneuploidies in the offspring Signup and view all the answers

What is a likely outcome from a 3:1 segregation in the case of a translocation during meiosis?

All offspring will be trisomic or monosomic Signup and view all the answers

What would be the primary risk associated with autosome-sex chromosome translocations?

Imbalance in X-inactivation processes Signup and view all the answers

What is the recurrence rate for viable offspring resulting from adjacent-1 segregation in meiosis?

71% Signup and view all the answers

Which type of segregation during gametogenesis is predominantly seen in oogenesis and is more variable due to age-related effects?

3:1 segregation Signup and view all the answers

Which term describes the phenomenon where two normal chromosomes result from a reciprocal translocation?

Balanced segregation Signup and view all the answers

What characterizes the chromosomal arrangement in a quadrivalent during meiosis?

Four chromosomes aligning and exchanging information Signup and view all the answers

Which meiotic outcome results in all chromosomes migrating to one daughter cell?

4:0 segregation Signup and view all the answers

What aspect of trisomies and monosomies in 3:1 segregation patterns is often observed?

They may lead to non-viable outcomes Signup and view all the answers

What is the typical result of adjacent-2 segregation?

Gametes have segment duplications and deletions Signup and view all the answers

What is the primary characteristic of mitochondrial DNA (mtDNA)?

It is circular and consists of approximately 16,500 base pairs. Signup and view all the answers

How is the inheritance of mitochondrial genomes primarily characterized in mammals?

Maternally inherited through the oocyte. Signup and view all the answers

What is heteroplasmy in the context of mitochondrial genetics?

The presence of multiple mitochondrial genotypes within a cell. Signup and view all the answers

What limits the repair capabilities of mitochondrial DNA?

The evolution of repair mechanisms and the presence of reactive oxygen species (ROS). Signup and view all the answers

What does the term 'parental leakage' refer to in mitochondrial genetics?

The inheritance of mitochondrial DNA from both parents. Signup and view all the answers

Which of the following best explains variable expression in mitochondrial inheritance?

It results from the presence of different mitochondrial genotypes in tissues. Signup and view all the answers

Which of the following statements regarding mitochondrial inheritance patterns is true?

Mitochondrial DNA is passed down primarily through the maternal line in most mammals. Signup and view all the answers

Which mode of inheritance is most commonly observed in angiosperms for mitochondria?

Maternal inheritance Signup and view all the answers

What is a common consequence of mitochondrial mutations in somatic cells?

They can lead to progressive mitochondrial dysfunction with aging. Signup and view all the answers

What does the term 'heteroplasmy' refer to in regard to mitochondrial inheritance?

Mutations present alongside normal mitochondria Signup and view all the answers

In the context of mitochondrial inheritance, what does parental leakage imply?

Inheritance of mitochondria from the father Signup and view all the answers

How do multiple types of mitochondria in a maternal parent affect offspring phenotypes?

Offspring may inherit a mix of mitochondrial types Signup and view all the answers

Which of the following accurately describes the implications of mitochondrial DNA (mtDNA) mutations?

They can impact multiple tissues and organs Signup and view all the answers

What factor complicates fertility for women with mitochondrial disorders?

Maternal inheritance patterns in mtDNA Signup and view all the answers

Which of the following is a characteristic of mitochondrial disease progression?

Somatic mutations lead to tissue-specific outcomes Signup and view all the answers

What challenge arises in evaluating mitochondrial inheritance patterns?

Complex inheritance patterns must be analyzed Signup and view all the answers

What is the probability of having three offspring where two are normal height and one is short from a cross of two heterozygous tall plants?

$27/64$ Signup and view all the answers

In XX/XY sex determination, which of the following terms is used to describe the female type?

Homogametic Signup and view all the answers

What concept best describes having one allele for a gene present in a diploid organism due to a sex-linked trait?

Hemizygous Signup and view all the answers

Which statement differentiates XX/XY from ZZ/ZW sex determination systems?

Only females are heterogametic in XX/XY. Signup and view all the answers

What is a proposed consequence of climate change on sex ratios in certain reptiles?

It alters temperature-dependent sex determination, affecting ratios. Signup and view all the answers

What is the primary role of regions of similarity between the human X and Y chromosomes?

To facilitate recombination during meiosis. Signup and view all the answers

In Mendel's experiments with fruit flies, what was the purpose of using reciprocal crosses?

To establish patterns of inheritance without sex-linked bias. Signup and view all the answers

Which factor is necessary for genes to be considered unlinked during a genetic cross?

They must be on different chromosomes or far apart on the same chromosome. Signup and view all the answers

What temperature range is necessary for male crocodile development?

32-33°C Signup and view all the answers

Which gene is primarily responsible for testes development in mammals?

SRY Signup and view all the answers

What indicates that phenotypically female development can occur in XY individuals?

Loss of certain genes Signup and view all the answers

What is the potential consequence of increasing global temperatures on species with temperature-dependent sex determination?

Disruption of male-to-female ratios Signup and view all the answers

What role do autosomal genes play in sexual development?

Triggered by sex chromosome genes Signup and view all the answers

What does the inheritance pattern of X-linked genes lead to?

Differential expression of traits Signup and view all the answers

Which component of the Y chromosome is primarily responsible for the activation of male characteristics?

SRY expression Signup and view all the answers

Which of the following represents a misconception about biological sex default development?

Male is the default sex Signup and view all the answers

Which type of inheritance did Thomas Hunt Morgan illustrate through his experiments with fruit flies?

X-linked inheritance Signup and view all the answers

What occurs when the SRY gene is absent during early gonad development?

Ovaries develop Signup and view all the answers

What describes the crossing-over regions in male meiosis between X and Y chromosomes?

Pseudoautosomal region Signup and view all the answers

What best explains the term 'hemizygous' as it relates to male inheritance?

One copy of X-linked genes Signup and view all the answers

What primarily influences phenotypical sex development during the initial stages of embryonic development?

activation of specific genes Signup and view all the answers

What is the primary role of differentially methylated regions in gene regulation?

To silence specific gene expressions Signup and view all the answers

What distinguishes maternal imprinting from paternal imprinting?

The inactive allele varies based on the parent's origin Signup and view all the answers

What is the result of demethylation in the process of imprinting?

It reactivates previously silenced genes Signup and view all the answers

How does random lyonization differ from imprinted lyonization?

Imprinted lyonization maintains expression of one parent's X chromosome Signup and view all the answers

Which consequence of X-inactivation best describes dosage compensation?

Balances the gene dosage between males and females Signup and view all the answers

Which type of chromatin is primarily associated with gene repression?

Heterochromatin Signup and view all the answers

What is the likely effect of X-inactivation on females with two X chromosomes?

Only one X chromosome is functionally active Signup and view all the answers

What does mosaicism refer to in the context of X-inactivation?

A mix of two different genotypes within the same individual Signup and view all the answers

Which syndrome is characterized by paternal imprinting, leading to the loss of function of specific genes?

Prader-Willi Syndrome Signup and view all the answers

How does methylation of cytosine influence gene expression?

It correlates with gene repression and heterochromatin formation Signup and view all the answers

Study Notes

Translocations and Their Consequences

Adjacent-1 segregation: all gametes have both losses and gains.
Adjacent-2 segregation: all cells contain derivative chromosomes with accompanying losses and gains.
Alternate segregation: half the gametes receive both parts of the reciprocal translocation, and the other half receive both normal chromosomes.
All gametes derived from alternate segregation are euploid and contain normal genetic content, but half are translocation carriers.
Balanced carriers exhibit phenotypes due to positional effect, as the position of a gene can influence its expression.
Alternate segregation is the only way to have fully balanced chromosomes.
Quadrivalent: occurs during meiosis, the larger the change (more genetic material exchanged), the greater the probability of forming the quadrivalent.
Alignment and segregation, not exchange, are the problem during translocation, as they can lead to complicated outcomes.
Further recombination after translocation reduces the likelihood of viability.
Autosome-sex chromosome translocations are particularly problematic because they are not intended to align or exchange material.
X inactivation can lead to inactivation of autosomal segments and genes in autosome-sex chromosome translocations.
X inactivation exhibits a preferential process designed to inactivate the least problematic X chromosome in these conditions.
If both X chromosomes have translocated material, some autosomal material will be inactivated, and some critical X material will not be.
Spermatogenesis shows an alternate segregation prevalence of 44%, adjacent-1 prevalence of 31% (predominant forms and more favorable phenotype), adjacent-2 segregation of 13%, 3:1 segregation of 11%, and 4:0 segregation is rare.
Data for oogenesis is more problematic and variable, exhibiting age-related effects that complicate analysis.
Acrocentric chromosomes show fewer alternate segregants and more 3:1 segregants due to the asymmetry of the quadrivalent.
Centric fusion: a rare event involving breakage in one short arm and one long arm; inheritance risk correlates with losses and gains in genetic material, as well as imprinting risks.
Sex chromosome translocations can occur with autosomes, the other sex chromosome, or even with a homolog. This can lead to silencing of the other X chromosome or deletion if it is shut off.
X-linked translocations must consider silencing/imprinting as it can mitigate or exacerbate the phenotypic outcomes.
Frequent outcomes of X and Y translocations include infertility and embryonic lethality.
All studied de novo X autosome translocations have been paternal in origin.

Segregation Patterns

2:2 segregation: Each daughter cell receives two of the four chromosomes involved in the quadrivalent.
Homologous chromosomes separate in alternating patterns to give two balanced cells.
This is the most frequent outcome for children of translocation heterozygotes.
It includes alternate, adjacent-1, and adjacent-2 segregation.
3:1 segregation: Demonstrates that the devastations of monosomies as interchange monosomies are only ever seen at pre-implantation genetic diagnosis.
There are various outcomes, but often involve trisomies and monosomies.
It can happen in all combinations, but is less likely due to the multiple events involved.
4:0 segregation: Only considered in preimplantation genetic diagnosis, as it leads to too much information in one cell and none in the other.
Adjacent-1 segregation: Homologous centromeres separate at anaphase I, resulting in gametes with duplications and deletions.
This pattern gets closest to the dicentric state, but without full monosomy or trisomy.
Adjacent-2 segregation: Homologous centromeres stay together at anaphase I, resulting in gametes with segment duplication and deletion.
Recombination increases with increasing distance between genes, with a maximum frequency of 50%.
Cold spots are regions where recombination is not advantageous, while hot spots are regions where recombination is advantageous.

Steps of Meiosis

Prophase I: Nuclear envelope disintegrates and chromosomes condense.
Genetic material interacts, enabling recombination and proper separation after recombination events.
Homologous chromosomes pair, leading to crossing over and repulsion, resulting in chiasmata.
Genetic material is organized, lined up, and exchanged.
Metaphase I: Bivalents position with centromeres of two homologs on opposite sides of the metaphase plate.
Centromeres are oriented randomly with respect to the poles of the spindle.
Genes on different chromosomes undergo independent assortment, as nonhomologous chromosomes align randomly at metaphase I.
Exceptions occur due to regions of homology.
Nondisjunction occurs when chromosomes stick together, leading to one cell getting too much genetic information and the other not enough.
Anaphase I: Homologs separate.
Telophase I: Chromosomes arrive at the poles.
Interkinesis: Time between meiosis I and II where chromosomes decondense.
Prophase II: Spindle reforms, chromosomes recondense, and the nuclear membrane breaks down.
Metaphase II: Chromosome alignment driven by microtubules.
Anaphase II: Sister chromatids separate to opposite poles.
Telophase II: Chromosomes arrive at the poles, decondense, the spindle breaks down, and a new cell membrane forms.
Cytokinesis: Separation of cytoplasm into two new daughter cells via a contractile ring.
Chromosome Complement: Haploid form of cell (23 chromosomes). Diploid means two chromosome complements (46).

Robertsonian Translocations

A Robertsonian translocation is a type of chromosomal rearrangement where two acrocentric chromosomes (chromosomes with a centromere close to one end) fuse together.
This fusion results in a single, large chromosome with the long arms of both original chromosomes combined.
These translocations can arise through different mechanisms:
- Unions following breaks in both short arms: This is the most common mechanism. It results in a dicentric chromosome (a chromosome with two centromeres).
- Centric fusion: This is a rarer mechanism involving the fusion of the centromeres of two chromosomes.
- Union following breakage in one short arm and one long arm: This is also a rare mechanism.
Robertsonian translocations have implications for inheritance, as they can lead to genetic material loss or gains, and potential imprinting risks.

Complications for Meiosis

In meiosis, the presence of a Robertsonian translocation can lead to the formation of a quadrivalent. A quadrivalent involves four chromosomes aligning and exchanging genetic information.
The greater the amount of genetic material exchanged, the more likely a quadrivalent will form.
Translocations can cause complex alignments and crossing-over events during meiosis.
Translocations between autosomes and sex chromosomes pose a significant challenge.
- Autosomes are not designed to align or exchange material with sex chromosomes.
- There are concerns about X inactivation potentially affecting autosomal segments and genes.
- In some cases, X inactivation preferentially inactivates the least problematic X chromosome.
- However, if both X chromosomes have translocated material, some autosomal material could be inactivated, leaving essential X chromosome material inactive.

Meiotic Outcomes

A quadrivalent can lead to different meiotic segregation patterns, with various outcomes.
- 2:2 segregation: This pattern involves each daughter cell receiving two chromosomes from the quadrivalent.
  - Alternate segregation: This is the most typical outcome for children of translocation heterozygotes. This pattern results in half of the gametes carrying both parts of the reciprocal translocation, and the other half receiving both normal chromosomes.
  - Adjacent segregation: Homologous centromeres separate to the same daughter cell.
    - Adjacent 1: Nonhomologous centromeres go to the same daughter cell, with homologous chromosomes separating.
    - Adjacent 2: Homologous centromeres go to the same daughter cell. This is less common.
- 3:1 segregation: This pattern involves one daughter cell receiving three chromosomes and the other receiving one.
  - It can lead to monosomies, which often result in preimplantation genetic diagnosis (PGD).
- 4:0 segregation: This pattern involves one daughter cell receiving all four chromosomes and the other receiving none.
  - It might be significant in PGD but less important in other contexts.
There is evidence suggesting a mechanism that ensures like centromeres segregate during meiosis.

Reciprocal Translocation

Involves an exchange of segments between two nonhomologous chromosomes.
Alternate segregation: This pattern results in half the gametes receiving both parts of the reciprocal translocation and the other half receiving both normal chromosomes.
- All gametes in this scenario are euploid (having the normal complement of chromosomes).
- However, half of the gametes are translocation carriers.
Adjacent-1 segregation: In this pattern, homologous centromeres separate, leading to gametes with duplications and deletions of genetic material.
Adjacent-2 segregation: In this pattern, homologous centromeres stay together, resulting in gametes with a segment duplication and deletion.

Viability

The viability of offspring with Robertsonian translocations depends on the specific genes involved and the extent of genetic material loss or gain.
Often, severe imbalances lead to spontaneous pregnancy loss before implantation.
The most common surviving imbalance is a partial trisomy.

Centromeric Fusion

The fusion of an acrocentric chromosome can be referred to as a Robertsonian translocation.

Adjacent-2 segregation

This is the segregation pattern where homologous centromeres end up together in the same daughter cell without an increase in the number of chromosomes.

Sex Determination

Sex determination can be by sex chromosomes, genes, or environmental factors.
In humans, sex is determined by the presence of the Y chromosome, which contains the SRY gene.
The SRY gene is a transcription factor that activates genes for testes development.
Testes produce testosterone, which promotes male characteristics, and Mullerian Inhibitory Substance (MIS) which suppresses female reproductive ducts.
In the absence of the Y chromosome, ovaries develop.
Absence of proper gene activity can hinder development and result in sterility.

Sex Determination in Other Species

Some species have sex determination systems that don't rely on chromosomes.
In crocodiles, sex is determined by the temperature of the nest during incubation.
Crocodiles incubated at 32-33°C develop as males, while those incubated at other temperatures develop as females.
Climate change is affecting the sex ratios of some species.
Global warming is increasing the proportion of females in species with temperature-dependent sex determination, which could disrupt reproductive potential.
ZZ/ZW sex determination:
- Females are the heterogametic sex (ZW)
- Males are the homogametic sex (ZZ)
XX/XY sex determination:
- Females are the homogametic sex (XX)
- Males are the heterogametic sex (XY)

X and Y Chromosomes

The X and Y chromosomes share a small region of homology called the pseudoautosomal region (PAR).
The PAR is necessary for proper pairing and crossing over during meiosis in males.
All genes within PAR1 are not inactivated in females because they need two copies of these genes for proper function.

Sex-Linked Inheritance

Genes located on the sex chromosomes exhibit different inheritance patterns than those located on autosomes.
X-linked inheritance is more common than Y-linked inheritance because the X chromosome carries more genes.
Reciprocal crosses
- are crosses with the sexes reversed in order to confirm X-linked inheritance.
Thomas Hunt Morgan used fruit flies to study X-linked inheritance.
Morgan observed that recessive mutations on the X chromosome were expressed more frequently in males than females. This is because males are hemizygous for X-linked genes, meaning they have only one copy of each.

Mitochondrial Genetics

The mitochondrial genome (mtDNA) is a circular molecule that is about 16,500 base pairs long.
mtDNA is organized into complexes called nucleoids, which contain the information for replication, transcription, stabilization of the genome, and repair.
Mitochondria have limited repair abilities and are highly susceptible to mutations.
Mutations in mtDNA can accumulate over time and contribute to aging.

Mitochondrial Inheritance

In most species, mitochondria are inherited maternally.
This means that offspring inherit their mitochondria from their mother, not their father.
Parental leakage is the occasional inheritance of mitochondria from the father.
Heteroplasmy refers to the presence of more than one type of mitochondrion in a cell or individual.
Heteroplasmy can result in variable expression of mitochondrial traits in offspring.

Mitochondrial Disease

Mutations in mtDNA can cause a variety of diseases.
Mitochondrial diseases can affect multiple tissues and organs.
The inheritance of mitochondrial diseases is complex and can be influenced by factors such as heteroplasmy.
Maternal inheritance complicates female fertility for individuals with mitochondrial disorders.

Epigenetics

Epigenetics is the study of how environmental factors can influence gene expression without altering the underlying DNA sequence.
Euchromatin is the state of chromatin that is loosely coiled and actively transcribed.
Heterochromatin is the state of chromatin that is tightly coiled and inactive.
- Constitutive heterochromatin is always silenced.
- Facultative heterochromatin can be silenced or activated depending on the cell type or environment.
Lyonization/X-inactivation is the inactivation of one X chromosome in females.

X-Inactivation

X-inactivation ensures that females do not have twice the amount of X-linked gene products as males. This is referred to as dosage compensation.
The process of X-inactivation involves the silencing of one entire X chromosome in each cell.
The choice of which X chromosome to inactivate is random in most cells. However, some cells undergo imprinted X-inactivation, where one specific X chromosome is always inactivated.
X-inactivation can lead to mosaicism, where different cells in an individual express different alleles of X-linked genes.
This can result in variable phenotypes.

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