Sexual Selves and Development

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Questions and Answers

Which of the following factors contribute to an individual's sense of whether they are male or female?

  • Psychological components
  • Sociological components
  • Genes
  • All of the above (correct)

During prenatal development, when do gender differences typically become apparent?

  • Ninth week (correct)
  • Twelfth week
  • Fifth week
  • Sixteenth week

What is the role of the SRY gene in sexual development?

  • Ensuring the development of both male and female structures
  • Steering development along a male route (correct)
  • Suppressing the development of female characteristics
  • Guaranteeing normal function of the uterine muscle

Which of the following statements is most accurate regarding sex determination?

<p>Sex determination can be viewed as a fate imposed on ambiguous precursor structures (C)</p> Signup and view all the answers

What effect would a mutation in the Wnt4 gene have on a female's sexual development?

<p>Cause her to have high levels of male sex hormones and lack a vaginal canal and uterus (A)</p> Signup and view all the answers

What is the heterogametic sex in humans, and why is it called that?

<p>Males, because they have one X and one Y chromosome (C)</p> Signup and view all the answers

What is the significance of the pseudoautosomal regions (PARs) located on the X and Y chromosomes?

<p>They ensure that X and Y chromosomes pair properly during meiosis in males. (C)</p> Signup and view all the answers

What was the key finding from studying XX males and XY females that led to the identification of the SRY gene?

<p>XX males had a piece of the Y chromosome, while XY females lacked a piece of the Y chromosome. (C)</p> Signup and view all the answers

What is the role of the SRY transcription factor in male sexual development?

<p>It stimulates male development by sending signals to the indifferent gonads. (C)</p> Signup and view all the answers

What is the function of anti-Müllerian hormone, and which cells secrete it?

<p>Destroys potential female structures; Sertoli cells (D)</p> Signup and view all the answers

What is a potential outcome of genetic or hormonal abnormalities during prenatal sexual development?

<p>An XY individual with a block in gene and hormone activity develops a female phenotype. (B)</p> Signup and view all the answers

Which term is most appropriate for describing an individual whose internal structures are inconsistent with their external structures?

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

What suggests that homosexuality may have a genetic component?

<p>Identical twins are more likely to both be homosexual than fraternal twins (B)</p> Signup and view all the answers

How is sex ratio calculated in human populations?

<p>Number of males divided by the number of females multiplied by 1,000 (C)</p> Signup and view all the answers

In some societies, what factors have contributed to an unnaturally skewed sex ratio favoring males?

<p>Prenatal diagnostic techniques leading to termination of XX fetuses (C)</p> Signup and view all the answers

What were some long-term consequences of China's "one-child policy"?

<p>A potential deficit of female partners for men. (B)</p> Signup and view all the answers

What are Y-linked traits, and why are they relatively rare?

<p>Traits carried on the Y chromosome and passed from male to male. (C)</p> Signup and view all the answers

Why is a human male considered hemizygous for X-linked traits?

<p>Because he has only one X chromosome (B)</p> Signup and view all the answers

In X-linked recessive inheritance, how is the trait expressed in females, and where does it typically come from?

<p>Expressed if the causative allele is present in two copies; passed from an unaffected heterozygous mother. (A)</p> Signup and view all the answers

How does misalignment of homologous chromosomes during crossing over lead to colorblindness?

<p>It causes a deletion or duplication of the red or green opsin genes. (D)</p> Signup and view all the answers

Which of the following statements accurately describes sex-limited traits?

<p>They affect structures or functions present in only one sex. (D)</p> Signup and view all the answers

Why is understanding sex-limited inheritance important in animal breeding?

<p>It allows breeders to select for traits that are only expressed in one sex. (C)</p> Signup and view all the answers

How does the male genome contribute to the development of preeclampsia, which arises during pregnancy?

<p>By contributing to the development of supportive structures such as the placenta. (A)</p> Signup and view all the answers

In sex-influenced traits, how does the expression of an allele differ between males and females?

<p>An allele is dominant in one sex but recessive in the other. (D)</p> Signup and view all the answers

How does a heterozygous genotype influence the expression of hair pattern baldness in males versus females?

<p>A heterozygous male is bald, whereas a heterozygous female is not. (D)</p> Signup and view all the answers

What is the purpose of X inactivation in mammals?

<p>To compensate for the unequal dosage of X chromosome genes between males and females. (B)</p> Signup and view all the answers

What is a Barr body, and who proposed its significance?

<p>The inactivated X chromosome in females; proposed by Mary Lyon. (C)</p> Signup and view all the answers

How does X inactivation lead to a mosaic pattern of gene expression in female mammals?

<p>Females express X chromosome genes inherited from the father in some cells and those from the mother in others. (D)</p> Signup and view all the answers

What type of change does X inactivation represent and how is it passed on?

<p>An epigenetic change. (D)</p> Signup and view all the answers

What is the role of the XIST gene in X inactivation?

<p>It encodes an RNA that binds to a specific site on the X chromosome, leading to inactivation. (C)</p> Signup and view all the answers

When does X inactivation typically occur during development?

<p>Early in fetal development (D)</p> Signup and view all the answers

What is a consequence of X inactivation on the phenotype of homozygous X-linked genotypes?

<p>There is no effect, no matter which X chromosome is turned off. (B)</p> Signup and view all the answers

What can be detected by examining hair cells when testing an individual who carries Lesch-Nyhan syndrome?

<p>Mosaicism patterns of X inactivation, where some hairs contain HGPRT, and others do not. (C)</p> Signup and view all the answers

What is the definition of genomic imprinting?

<p>A form of gene regulation where certain genes are expressed in a parent-specific manner (C)</p> Signup and view all the answers

What is the effect of methyl groups in genomic imprinting?

<p>Methyl groups shield imprinted genes and prevent them from synthesizing protein (D)</p> Signup and view all the answers

Why are two opposite-sex parents considered necessary to produce a healthy embryo and placenta in mammals from a genomic imprinting context?

<p>For complete genetic instruction because both are required. (C)</p> Signup and view all the answers

How is the imprinting pattern passed on from one cell generation to the next?

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

What happens to imprints on DNA during meiosis?

<p>Imprints are removed and reset depending on the sex of the individual. (B)</p> Signup and view all the answers

Why might genomic imprinting be a concern in assisted reproductive technologies (ART)?

<p>The artificial processes that manipulate gametes. (B)</p> Signup and view all the answers

What genetic anomaly happens that gives rise to either Prader-Willi syndrome or Angelman syndrome?

<p>Both syndromes arise from small deletions in the same region of chromosome 15, but differ on which parent contributed the deletion. (C)</p> Signup and view all the answers

What is the significance of uniparental disomy in the context of genomic imprinting?

<p>It can cause the expression of imprinted genes that can vary in different syndromes. (D)</p> Signup and view all the answers

Flashcards

Sexual determination at conception

Maleness or femaleness is determined at conception via sex chromosomes inherited from each parent.

When do gender differences become apparent?

Differences become apparent around the ninth week of prenatal development.

What is the SRY gene?

A gene on the Y chromosome that, when activated, causes hormones to steer the development along a male route. Female develops in absence.

What is heterogametic sex?

The sex with two different sex chromosomes.

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What is homogametic sex?

The sex with two of the same sex chromosomes.

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What are pseudoautosomal regions?

Regions at both tips of the Y chromosome.

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What is the SRY gene's function?

Encodes a protein regulating gene expression.

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What is the anti-Müllerian hormone?

Hormone that destroys potential female structures.

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Intersex conditions

Terms describing inconsistent genetic/chromosomal sex and physical structures.

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What is hermaphroditism?

Condition where an individual has both male and female sexual structures.

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What is Intersex?

Refers to inconsistent internal and external structures, or ambiguous genitalia.

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Pseudohermaphroditism

Condition with both types of structures present at different life stages.

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Transgender

Condition related to sexual identity.

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What is sex ratio?

Ratio of males to females in a population.

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X-linked genes

Genes on the X chromosome.

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Y-linked genes

Genes on the Y chromosome.

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Hemizygous

Males inherit only one set of X-linked genes.

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X-linked recessive trait expression in females

Requires two copies of an allele to be expressed in females.

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What are cone cells?

The three types are defined by their photopigments.

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Sex-Influenced Traits

Condition where an allele is more impactful in one sex compared to the other.

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Sex-Limited Traits

The phenotype result is related to a structure specific to just one sex.

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What is X inactivation?

Process to equalize X chromosome gene expression.

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What is a Barr body?

Inactivated X chromosome

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What is XIST?

A gene that controls X inactivation.

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Hunter syndrome

Cell sends enzyme across to correct deficits in cells not able to produce that same enzyme.

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What is genomic imprinting?

Methyl groups cover a gene to prevent synthesis of protein.

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Genomic imprinting outcome

Expression can depend on which parent transmitted the mutant allele.

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What happens in meiosis?

Imprints are removed as oocyte and sperm form.

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Uniparental disomy

Offspring inheriting both copies of a gene from one parent.

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Imprinting gone awry

Associated with diabetes, autism, schizophrenia, male homosexuality.

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Study Notes

Sexual Selves

  • Being male or female is important in relationships, thoughts, actions, and how others see them.
  • Gender is dictated by genes, but also influenced by psychological and sociological factors.
  • Maleness or femaleness is determined at conception with males inherit an X and a Y chromosome and females inherit two X chromosomes.
  • Hormones control the development of reproductive structures.
  • Biological factors and social cues influence sexual feelings.

Sexual Development

  • Gender differences become apparent around the ninth week of prenatal development.
  • All embryos develop two unspecialized gonads in the fifth week, which can become testes or ovaries.
  • Indifferent gonads form near two sets of ducts that offer two developmental options.
  • Müllerian ducts develop into female sexual structures if they continue to develop.
  • Male structures are formed if the Wolffian ducts persist.
  • The choice to follow a male or female developmental pathway occurs during the sixth week by sex chromosome constitution and certain genes.
  • The SRY gene on the Y chromosome, when activated, guides development on a male route with hormones.
  • In the absence of SRY activation, a female develops.
  • Sex determination is now seen as a fate imposed on precursor structures.

Sex Chromosomes

  • Human males and females have equal numbers of autosomes.
  • Males have one X and one Y chromosome, while females have two X chromosomes.
  • The heterogametic sex has two different sex chromosomes.
  • Having two of the same sex chromosome is the homogametic sex.
  • Sex chromosomes differ in size and gene content; the X chromosome has more than 1000 genes while the Y chromosome has 231 protein-encoding genes.
  • The Y chromosome structure consists of a short and long arm with pseudoautosomal regions PAR1 and PAR2 at both tips.
  • The pseudoautosomal regions comprise 5 percent of the chromosome and include 63 pseudoautosomal genes.
  • DNA sequences have counterparts on a chromosome and can cross over.
  • The Y chromosome was first seen under a light microscope in 1923 and researchers recognized its association with maleness.
  • Researchers looked to identify the gene or genes that determine the sex.
  • In 1990, researchers isolated and identified the SRY gene.
  • Clues came with the interesting people with two x chromosomes who developed as men known as (XX male syndrome) and women with one X and one Y chromosome who developed as women known as (XY female syndrome).
  • The SRY gene encodes a protein called a transcription factor.
  • The SRY transcription factor stimulates male development by sending signals to the indifferent gonads.
  • Sertoli cells secrete the anti-Müllerian hormone, destroying potential female structures.
  • Interstitial cells in the testis also secrete testosterone, stimulating the development of male structures.
  • Prenatal sexual development is a multistep process where genetics can intervene.
  • An XY individual with a blocked gene and hormone-controlled male structure may have a female phenotype.
  • Several terms describe individuals whose genetic/chromosomal sex and physical structures are inconsistent with one gender
  • These include: -Hermaphroditism being an older term for someone with both male and female sexual structures -Intersex describing individuals with inconsistent internal and external structures, or ambiguous genitalia, and -Pseudohermaphroditism being the presence of both types of structures at different stages of life.
  • A transgender individual has the phenotype and sex chromosomes of one gender but strongly identifies with the opposite gender.

Homosexuality

  • No one really knows why feelings of gender belonging or attraction exist however, they are very strong.
  • Homosexuality occurs when a person's phenotype and genotype are consistent, but physical attraction is toward the same sex.
  • It is seen in cultures and has been documented in over 500 animal species.
  • Homosexuality reflects complex input from both genes and the environment.
  • The genetic influence has been suspected because homosexual individuals have strong feelings at being young children long before knowing the term.
  • Identical twins are more likely to both be homosexual than fraternal twins which suggests a genetic component.

Sex Ratio

  • The sex ratio in a population is the proportion of males to females.
  • It is calculated by dividing the number of males by the number of females, multiplied by 1,000.
  • A sex ratio of equal numbers of males and females would be 1,000.
  • Sex ratio at birth is termed secondary while at maturity it is tertiary.
  • India and China researchers identified "missing females".
  • XX fetuses that were terminated and underreporting of female births, along with infanticide caused sex ratios favoring males.
  • By 2020, 20 million found themselves without female partners as a consequence of China's "one-child policy with financial incentives to control runaway population growth which began in 1979.
  • The government revoked benefits if a couple had a second child.
  • Families wanted their only child to be a boy, and failed to continue or report female pregnancies and there was societal reasoning where a son would care for his aging parents, but a daughter would care for her in-laws.
  • The one-child policy prevented hundreds of millions of births.
  • The average number of births per woman fell from 5.4 in 1971 to 1.8 in 2001.
  • By the turn of the century, 117 boys were being born for every 100 girls.
  • As a result, Children have few siblings, cousins, aunts, or uncles.
  • Human females are XX, and males are XY.
  • The Y chromosome has few genes including palindromes and sequences similar to those on the X chromosome.
  • The activation of SRY starts gene action that causes testes to develop.
  • Testosterone directs the development of external structures.
  • Disorders can cause chromosomal, gonadal, and/or phenotypic sex to be inconsistent.
  • Genes and the environment contribute to homosexuality.
  • Traits passed on the Y chromosome are Y-linked and those on the X-chromosome are X-linked
  • Males are hemizygous, expressing all genes on their X chromosome, whereas females express recessive alleles on the X chromosome only if they are homozygous recessive
  • X-linked recessive traits have a 50 percent probability of passing from carrier mothers to sons.
  • Mendel’s first law can be used to solve problems involving X linked genes.

Sex-Linked vs Sex-Influenced Traits

  • An X-linked recessive trait is generally more prevalent in males than females,
  • Sex-limited traits affect structures or functions that are present in only males or only females and the gene may be X-linked or autosomal.
  • Animal breeding requires understanding sex-limited inheritance.
  • In humans, beard growth is sex-limited; women does not manufacture hormones that produce facial hair.
  • Preeclampsia can arise during pregnancy is obviously sex-limited, but the male genome contributes to the development of the placenta.
  • A study found if a man's first wife had Preeclampsia, his second wife had double the risk and women whose mothers-in-law developed Preeclampsia when pregnant had twice the rate of developing it.

X-Inactivation

  • Females have two alleles where males have only one.
  • X inactivation balances the expression of genes on the X chromosome
  • A female expresses X chromosome genes from her father in some cells and from her mother in others and is a mosaic for expression of most genes on the X chromosome.
  • The inactivated X chromosome is called a Barr body.
  • X inactivation occurs early in development an is an epigenetic change that does not alter the DNA base sequence.
  • The XIST gene controls X inactivation.
  • The impact of X inactivation on the phenotype is
    • Homozygous X-linked genotypes have no effect because no matter which X chromosome is turned off, the same allele is left to be expressed.
    • Heterozygotes lead to expression where one allele is the result.
  • Incontinentia pigmenti patients can reveal the X inactivation.
  • Heterozygous females for an X-linked recessive gene can express the associated condition of the normal allele is inactivated in tissues that are affected.
  • A carrier who expresses the phenotype is called a manifesting heterozygote.
  • In humans:X inactivation can identify Lesch-Nyhan carriers.One result of that is cerebral palsy, biting fingers etc and mutation with defective or absent HGPRT, an enzyme.
  • One of a female's has the X inherited form their father, while the other population has the X chromosomes she inherited.
  • Differences can lead to advantages for women, as displayed with certain monkeys being able to enjoy tri color vision when they are heterozygous for X-linked vision pigment genes.

Genomic Imprinting

  • Methyl (CH3) groups cover a gene preventing them being accessed to synthesize protein.
  • Both copies copied inherited are methyl covered, in every individual, and the parental mutant is transferred.
  • Imprinting doesn't occur through meiosis however; in females it occurs at both XY and XX.
  • Understanding comes from seeing human development early on. It can explain how the fetus develops and the reason for the placenta. The discovery was made in mouse embryos.
  • Genomic imprinting explains in incomplete penetrance, in which one inherits a genotype associated with is known as inheritance.
  • Also important with assisted technologies for fertility, in manipulations such as IVF.

Imprinting Disorders

  • There were 156 identified affect health when.
  • Effects of are revealed only when the other allele doesn't exist.
  • Angelman has similar features, such as autism. Only the mother's chromosome 15 region is in prader-willi syndrome, while the reverse happens in a angelman.
  • May be from Alzheimers or for autism. Also is a genetic contribution. Also can lead to a one parent only genetic profile.

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