Podcast
Questions and Answers
Which of the following factors contribute to an individual's sense of whether they are male or female?
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?
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?
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?
Which of the following statements is most accurate regarding sex determination?
What effect would a mutation in the Wnt4 gene have on a female's sexual development?
What effect would a mutation in the Wnt4 gene have on a female's sexual development?
What is the heterogametic sex in humans, and why is it called that?
What is the heterogametic sex in humans, and why is it called that?
What is the significance of the pseudoautosomal regions (PARs) located on the X and Y chromosomes?
What is the significance of the pseudoautosomal regions (PARs) located on the X and Y chromosomes?
What was the key finding from studying XX males and XY females that led to the identification of the SRY gene?
What was the key finding from studying XX males and XY females that led to the identification of the SRY gene?
What is the role of the SRY transcription factor in male sexual development?
What is the role of the SRY transcription factor in male sexual development?
What is the function of anti-Müllerian hormone, and which cells secrete it?
What is the function of anti-Müllerian hormone, and which cells secrete it?
What is a potential outcome of genetic or hormonal abnormalities during prenatal sexual development?
What is a potential outcome of genetic or hormonal abnormalities during prenatal sexual development?
Which term is most appropriate for describing an individual whose internal structures are inconsistent with their external structures?
Which term is most appropriate for describing an individual whose internal structures are inconsistent with their external structures?
What suggests that homosexuality may have a genetic component?
What suggests that homosexuality may have a genetic component?
How is sex ratio calculated in human populations?
How is sex ratio calculated in human populations?
In some societies, what factors have contributed to an unnaturally skewed sex ratio favoring males?
In some societies, what factors have contributed to an unnaturally skewed sex ratio favoring males?
What were some long-term consequences of China's "one-child policy"?
What were some long-term consequences of China's "one-child policy"?
What are Y-linked traits, and why are they relatively rare?
What are Y-linked traits, and why are they relatively rare?
Why is a human male considered hemizygous for X-linked traits?
Why is a human male considered hemizygous for X-linked traits?
In X-linked recessive inheritance, how is the trait expressed in females, and where does it typically come from?
In X-linked recessive inheritance, how is the trait expressed in females, and where does it typically come from?
How does misalignment of homologous chromosomes during crossing over lead to colorblindness?
How does misalignment of homologous chromosomes during crossing over lead to colorblindness?
Which of the following statements accurately describes sex-limited traits?
Which of the following statements accurately describes sex-limited traits?
Why is understanding sex-limited inheritance important in animal breeding?
Why is understanding sex-limited inheritance important in animal breeding?
How does the male genome contribute to the development of preeclampsia, which arises during pregnancy?
How does the male genome contribute to the development of preeclampsia, which arises during pregnancy?
In sex-influenced traits, how does the expression of an allele differ between males and females?
In sex-influenced traits, how does the expression of an allele differ between males and females?
How does a heterozygous genotype influence the expression of hair pattern baldness in males versus females?
How does a heterozygous genotype influence the expression of hair pattern baldness in males versus females?
What is the purpose of X inactivation in mammals?
What is the purpose of X inactivation in mammals?
What is a Barr body, and who proposed its significance?
What is a Barr body, and who proposed its significance?
How does X inactivation lead to a mosaic pattern of gene expression in female mammals?
How does X inactivation lead to a mosaic pattern of gene expression in female mammals?
What type of change does X inactivation represent and how is it passed on?
What type of change does X inactivation represent and how is it passed on?
What is the role of the XIST gene in X inactivation?
What is the role of the XIST gene in X inactivation?
When does X inactivation typically occur during development?
When does X inactivation typically occur during development?
What is a consequence of X inactivation on the phenotype of homozygous X-linked genotypes?
What is a consequence of X inactivation on the phenotype of homozygous X-linked genotypes?
What can be detected by examining hair cells when testing an individual who carries Lesch-Nyhan syndrome?
What can be detected by examining hair cells when testing an individual who carries Lesch-Nyhan syndrome?
What is the definition of genomic imprinting?
What is the definition of genomic imprinting?
What is the effect of methyl groups in genomic imprinting?
What is the effect of methyl groups in genomic imprinting?
Why are two opposite-sex parents considered necessary to produce a healthy embryo and placenta in mammals from a genomic imprinting context?
Why are two opposite-sex parents considered necessary to produce a healthy embryo and placenta in mammals from a genomic imprinting context?
How is the imprinting pattern passed on from one cell generation to the next?
How is the imprinting pattern passed on from one cell generation to the next?
What happens to imprints on DNA during meiosis?
What happens to imprints on DNA during meiosis?
Why might genomic imprinting be a concern in assisted reproductive technologies (ART)?
Why might genomic imprinting be a concern in assisted reproductive technologies (ART)?
What genetic anomaly happens that gives rise to either Prader-Willi syndrome or Angelman syndrome?
What genetic anomaly happens that gives rise to either Prader-Willi syndrome or Angelman syndrome?
What is the significance of uniparental disomy in the context of genomic imprinting?
What is the significance of uniparental disomy in the context of genomic imprinting?
Flashcards
Sexual determination at conception
Sexual determination at conception
Maleness or femaleness is determined at conception via sex chromosomes inherited from each parent.
When do gender differences become apparent?
When do gender differences become apparent?
Differences become apparent around the ninth week of prenatal development.
What is the SRY gene?
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?
What is heterogametic sex?
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What is homogametic sex?
What is homogametic sex?
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What are pseudoautosomal regions?
What are pseudoautosomal regions?
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What is the SRY gene's function?
What is the SRY gene's function?
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What is the anti-Müllerian hormone?
What is the anti-Müllerian hormone?
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Intersex conditions
Intersex conditions
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What is hermaphroditism?
What is hermaphroditism?
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What is Intersex?
What is Intersex?
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Pseudohermaphroditism
Pseudohermaphroditism
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Transgender
Transgender
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What is sex ratio?
What is sex ratio?
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X-linked genes
X-linked genes
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Y-linked genes
Y-linked genes
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Hemizygous
Hemizygous
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X-linked recessive trait expression in females
X-linked recessive trait expression in females
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What are cone cells?
What are cone cells?
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Sex-Influenced Traits
Sex-Influenced Traits
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Sex-Limited Traits
Sex-Limited Traits
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What is X inactivation?
What is X inactivation?
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What is a Barr body?
What is a Barr body?
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What is XIST?
What is XIST?
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Hunter syndrome
Hunter syndrome
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What is genomic imprinting?
What is genomic imprinting?
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Genomic imprinting outcome
Genomic imprinting outcome
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What happens in meiosis?
What happens in meiosis?
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Uniparental disomy
Uniparental disomy
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Imprinting gone awry
Imprinting gone awry
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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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