Biology Chapter 6: Sex Determination & Gametogenesis

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What genetic combination leads to the formation of ovaries in mammals?

  • XY
  • XW
  • XX (correct)
  • YW

Which mechanism of sex determination is NOT employed by mammals?

  • Chromosomal sex determination
  • Environmental sex determination
  • Gene regulatory networks
  • Temperature-dependent sex determination (correct)

What is the role of the Y chromosome in mammalian sex determination?

  • It promotes testis formation. (correct)
  • It has no role in sex determination.
  • It determines the number of X chromosomes.
  • It promotes ovary development.

In Drosophila, how is the sexual phenotype determined?

<p>By the number of X chromosomes. (C)</p> Signup and view all the answers

What type of cells do mammalian gonads produce?

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

What chromosomal combination results in a genetically male mammal?

<p>XY (C)</p> Signup and view all the answers

What is a bipotential gonad?

<p>A gonad that can develop into either testes or ovaries. (B)</p> Signup and view all the answers

What could potentially result from errors in meiosis during gamete formation?

<p>Gametes with abnormal numbers of sex chromosomes. (D)</p> Signup and view all the answers

What is the outcome for individuals with a single X chromosome?

<p>They develop underdeveloped external female genitalia. (D)</p> Signup and view all the answers

What initiates the development of testis in mammals?

<p>The presence of a Y chromosome. (D)</p> Signup and view all the answers

What is a characteristic of individuals with Klinefelter syndrome (XXY)?

<p>They develop testis and male genitalia. (C)</p> Signup and view all the answers

How does the presence of XY or XX chromosomes affect the fate of bipotential cells in early gonads?

<p>They differentiate according to the chromosome type. (A)</p> Signup and view all the answers

What determines secondary sex characteristics in mammals?

<p>Hormones produced by the gonads. (C)</p> Signup and view all the answers

What is a potential consequence of having extra X chromosomes (e.g., XXX)?

<p>Potential developmental issues or disorders. (A)</p> Signup and view all the answers

What hormonal type is typically elevated in individuals with Klinefelter syndrome?

<p>Estrogens. (C)</p> Signup and view all the answers

Which of the following conditions is characterized by the absence of a sex chromosome (X0)?

<p>Turner syndrome. (A)</p> Signup and view all the answers

What is the primary role of Sry in sex determination?

<p>Activation of the Sox9 transcription factor (B)</p> Signup and view all the answers

Which hormone is secreted by testis to maintain the Wolffian duct?

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

What can cause a 46,XX individual to develop male genitalia?

<p>Duplication of the Sox9 gene (A)</p> Signup and view all the answers

What occurs during secondary sex determination?

<p>Hormonal secretion that triggers further development (D)</p> Signup and view all the answers

What happens to the Wolffian duct in females?

<p>It atrophies due to lack of testosterone (B)</p> Signup and view all the answers

How does Sox9 contribute to testis formation?

<p>Inhibiting ovary formation (C)</p> Signup and view all the answers

What is the outcome of a deletion or mutation in the SRY gene in a 46,XY individual?

<p>Development of female phenotypes (D)</p> Signup and view all the answers

What is the primary mechanism by which Sox9 is activated in birds, fish, and frogs?

<p>Induction by Dmrt1 (A)</p> Signup and view all the answers

What roles do the genes Sf1, Wt1, Lhx9, and Gata4 play in sex determination?

<p>They are required for the formation of the bipotential gonad. (B)</p> Signup and view all the answers

Which of the following is true regarding the Sry gene?

<p>It acts as a transcription factor that activates Sox9. (C)</p> Signup and view all the answers

What occurs to germ stem cells during week 6 of development?

<p>They migrate into the gonadal tissue. (C)</p> Signup and view all the answers

What is the primary role of β-catenin in sex determination?

<p>It blocks the transcription of Sox9. (C)</p> Signup and view all the answers

What happens to individuals with Rspo1 mutations?

<p>They have two X chromosomes but male external genitalia. (A)</p> Signup and view all the answers

How does a duplication of the region on chromosome 1 that includes Wnt4 and Rspo1 affect XY individuals?

<p>It results in male-to-female sex reversal. (B)</p> Signup and view all the answers

Which process describes how the gonad influences germ cell fate?

<p>The gonad defines whether germ cells develop into oocytes or sperm. (A)</p> Signup and view all the answers

What indicates the start of sexual differentiation in human gonadal tissue?

<p>Week 8 of development. (C)</p> Signup and view all the answers

What is the role of estrogen in the development of the female reproductive tract?

<p>To cause differentiation of the Mullerian duct into the female reproductive tract (B)</p> Signup and view all the answers

Why do male estrogen receptor knockout mice become sterile?

<p>They develop very few sperm. (A)</p> Signup and view all the answers

What happens to the X chromosome that is inactivated in female mammals?

<p>It forms tightly bound heterochromatin. (C)</p> Signup and view all the answers

What is a characteristic feature of calico cats related to genetics?

<p>They exhibit patches of black and orange fur from X chromosome inactivation. (A)</p> Signup and view all the answers

Why are male cats typically not calico?

<p>They only inherit one X chromosome and cannot be heterozygous. (D)</p> Signup and view all the answers

What hormone is secreted by Sertoli cells?

<p>Anti-Mullerian hormone (AMH) (B)</p> Signup and view all the answers

What is the result of a mutation in the receptor that responds to testosterone in individuals with androgen insensitivity syndrome?

<p>Inability to maintain Wolffian duct structures (B)</p> Signup and view all the answers

What is the primary effect of dihydrotestosterone (DHT) during prenatal development?

<p>Masculinization of the urethra, prostate, penis, and scrotum (A)</p> Signup and view all the answers

Which of the following describes the genetic composition of individuals with androgen insensitivity syndrome?

<p>XY chromosomes but unable to respond to testosterone (C)</p> Signup and view all the answers

In individuals with 5-alpha reductase deficiency, what happens at puberty?

<p>Testosterone production leads to the appearance of male external genitalia (D)</p> Signup and view all the answers

What condition results from the secretion of testosterone but no response due to receptor mutation?

<p>Androgen insensitivity syndrome (A)</p> Signup and view all the answers

Which cells are responsible for the degeneration of the Mullerian duct?

<p>Sertoli cells (C)</p> Signup and view all the answers

What characterizes the external genitalia of individuals with androgen insensitivity syndrome?

<p>Fully developed female external genitalia (C)</p> Signup and view all the answers

Flashcards

Mammalian Sex Determination

The process by which genetic factors (chromosomes) determine whether an embryo develops into a male or a female.

XY Chromosomes (mammals)

In mammals, the presence of a Y chromosome usually leads to the development of testes.

XX Chromosomes (mammals)

In mammals, the presence of two X chromosomes usually leads to the development of ovaries.

Bipotential Gonad

The initial stage of a developing gonad in a mammal that can develop into either testes or ovaries depending on genetic factors.

Signup and view all the flashcards

Gametogenesis

The process of forming gametes (sperm and eggs).

Signup and view all the flashcards

Spermatogenesis

The process of forming sperm cells.

Signup and view all the flashcards

Oogenesis

The process of forming egg cells.

Signup and view all the flashcards

Sex Chromosomes

Chromosomes that determine the sex of an organism.

Signup and view all the flashcards

Environmental Sex Determination

A mechanism where environmental factors (like temperature during embryonic development) influence the sex of an organism.

Signup and view all the flashcards

Chromosomal Sex Determination

A mechanism where the sex of an organism is determined by the combination of sex chromosomes present.

Signup and view all the flashcards

Mammalian sex determination

The process by which the sex of a mammal is determined, primarily based on the presence or absence of a Y chromosome, which initiates testis development.

Signup and view all the flashcards

Y chromosome's role in sex determination

The Y chromosome triggers the development of testes, leading to the male sexual phenotype regardless of the number of X chromosomes.

Signup and view all the flashcards

Turner Syndrome (XO)

A genetic condition characterized by the presence of only one X chromosome, resulting in underdeveloped female external genitalia.

Signup and view all the flashcards

Klinefelter Syndrome (XXY)

A genetic condition with an extra X chromosome and a Y chromosome, leading to the development of testes but with lower androgens and higher estrogens, often causing infertility.

Signup and view all the flashcards

Primary Sex Determination

The initial determination of sex based on the gonads (testes or ovaries).

Signup and view all the flashcards

Secondary Sex Determination

The development of sexual characteristics outside the gonads, including the reproductive ducts and external genitalia, influenced by hormones and factors produced by the gonads.

Signup and view all the flashcards

Sex Chromosomes (XY or XX)

The chromosomes that determine the sex of a mammal – either XY (male) or XX (female).

Signup and view all the flashcards

Abnormal Sex Chromosome Amounts

Having an unusual number of sex chromosomes (e.g., XXX, XXY, XYY, XO).

Signup and view all the flashcards

Primary Sex Determination

The initial process of determining whether an embryo develops into a male or female.

Signup and view all the flashcards

Genital Ridge

An embryonic structure that in the presence/absence of specific genes (and Y chromosome) forms different gonads (ovaries or testes)

Signup and view all the flashcards

Bipotential Gonad

An embryonic structure that has the potential to develop into either a testis or an ovary.

Signup and view all the flashcards

Sry Gene

A gene located on the Y chromosome that triggers testis development

Signup and view all the flashcards

Sox9

A transcription factor activated by Sry that is crucial for testis development.

Signup and view all the flashcards

Wnt4 and Rspo1

Two genes that trigger ovarian development in XX embryos preventing Sox9 activation.

Signup and view all the flashcards

β-catenin

A protein that, when activated, promotes ovarian development and inhibits testis development.

Signup and view all the flashcards

Sex Chromosome Determination

The process of deciding between XX (Female) / XY(Male) development, driven by respective genes.

Signup and view all the flashcards

46,XX

The usual genetic makeup of a female, indicating two X chromosomes.

Signup and view all the flashcards

46,XY

The usual genetic makeup of a male, indicating two sexes

Signup and view all the flashcards

Secondary Sex Determination

Development of sex characteristics like breasts or genitalia.

Signup and view all the flashcards

Leydig cells

Cells in the testes that produce testosterone.

Signup and view all the flashcards

Sertoli cells

Cells in the testes that produce AMH.

Signup and view all the flashcards

Androgen Insensitivity Syndrome

A condition where XY individuals don't respond to testosterone.

Signup and view all the flashcards

Anti-Mullerian Hormone (AMH)

Hormone that causes Mullerian duct degeneration.

Signup and view all the flashcards

Wolffian ducts

Ducts that develop into male internal structures if stimulated by testosterone.

Signup and view all the flashcards

Mullerian ducts

Ducts that develop into female internal structures if not inhibited by AMH.

Signup and view all the flashcards

5-alpha reductase deficiency

A condition where testosterone can't be converted to DHT.

Signup and view all the flashcards

Dihydrotestosterone (DHT)

Hormone that promotes male external genitalia development.

Signup and view all the flashcards

Secondary sex determination (XX)

Estrogen's role in developing female reproductive organs and external genitalia in XX individuals.

Signup and view all the flashcards

Estrogen's importance

Estrogen is crucial for reproductive development in both males and females.

Signup and view all the flashcards

Estrogen receptor knockout (mice)

Absence of estrogen receptors leads to significant reproductive issues in both male and female mice.

Signup and view all the flashcards

X chromosome inactivation

A process that equalizes gene expression between males and females with two X chromosomes.

Signup and view all the flashcards

Barr body

The inactive X chromosome condensed into a dense structure in the cell's nucleus.

Signup and view all the flashcards

Calico cat coat color

The coat color pattern in calico cats is due to random X chromosome inactivation.

Signup and view all the flashcards

Sry's Role

Sry, a gene found only in mammals, activates the Sox9 transcription factor, initiating testis development.

Signup and view all the flashcards

Sox9's Function

Sox9, a transcription factor present in all vertebrates, promotes testis formation by regulating genes involved in male development.

Signup and view all the flashcards

Mammalian Sex Determination

The SRY gene is the main trigger for mammalian male sex development; in the absence of SRY, female development is more likely to occur.

Signup and view all the flashcards

SRY-positive 46,XX

Even with two X chromosomes (XX), if SRY is present from any other source (e.g translocation or duplication of SOX9), testes formation is triggered.

Signup and view all the flashcards

SRY-negative 46,XX

Without SRY in XX individuals, female development occurs due to lack of male-promoting factors.

Signup and view all the flashcards

46,XY Gonadal Dysgenesis

Mutation or deletion of the SRY gene on the Y chromosome results in female development despite having a Y.

Signup and view all the flashcards

Secondary Sex Determination

Following gonad formation, hormones regulate the development of secondary sexual characteristics (e.g., reproductive organs and physique).

Signup and view all the flashcards

Mullerian Duct

A duct system in an embryo that develops into female reproductive tract parts (oviducts, uterus, etc.), maintained by estrogen.

Signup and view all the flashcards

Wolffian Duct

A duct system in an embryo that develops into male reproductive tract parts maintained by testosterone secreted by testes.

Signup and view all the flashcards

Study Notes

Lecture 9: Sex Determination and Gametogenesis

  • Textbook: Chapter 6 (pages 176-187)

Chapter Overview

  • Mammalian sex determination:
    • How do chromosomes determine testis or ovary formation?
    • What gene regulatory networks are activated by the Y and X chromosomes?
    • Primary vs. secondary sex determination
    • Effects of mutations in key sex determination genes
  • Drosophila sex determination: A cascade of alternative RNA splicing events dictates sex determination
  • Mammalian gametogenesis: spermatogenesis + oogenesis

Mechanisms of Sex Determination

  • Chromosomal sex determination:
    • Examples: Mammals, birds, Drosophila
    • Mammals: XY chromosomes; XY → testes; XX → ovaries
    • Birds: males ZZ; females ZW
    • Drosophila: X chromosome number determines sex phenotype, Y chromosome plays no role
  • Environmental sex determination:
    • Example: incubation temperature determines sex

Mammalian Sex Determination

  • X-bearing sperm + X-bearing egg → female (XX)
  • Y-bearing sperm + X-bearing egg → male (XY)
  • How does the Y chromosome promote testis formation?
  • How do two X chromosomes promote ovary development and egg production?

Mammalian Sex Determination (Continued)

  • Gonad: reproductive organ producing gametes (reproductive cells)
  • Mammalian embryos have a bipotential gonad, meaning it can develop into either testes or ovaries
    • XX → ovaries
    • XY → testes

The Importance of the Y Chromosome in Mammalian Sex Determination

  • Each sperm has 22 autosomes + either an X or a Y chromosome
  • Each egg has 22 autosomes + an X chromosome
  • Errors in meiosis can lead to gametes with abnormal numbers of sex chromosomes

Importance of Chromosomes in Mammalian Sex Determination

  • Individuals with a single X chromosome (XO) have underdeveloped female external genitalia (Turner syndrome)
  • A second X is needed for normal ovarian development
  • The presence of a Y chromosome starts testis development
  • Klinefelter syndrome (XXY): Individuals have male genitalia, but have lower levels of androgens and higher estrogen levels; infertility commonly present

Mammalian Sex Determination (Summary)

  • XY or XX chromosomes determine the fate of early gonad cells
  • Primary sex determination (gonads): testes or ovaries
  • Secondary sex determination (external): male or female sex characteristics

Genes Involved in Primary Sex Determination

  • Genes required for differentiation of genital ridge into bipotential gonad
    • Sf1, Wt1, Lhx9, Gata4
  • Mice lacking any of these genes have no gonads

X-Chromosome Inactivation (Dosage Compensation)

  • Female mammals have two X chromosomes → need to balance gene expression with males one X
  • Random inactivation of one X chromosome in each cell:
    • Inactivation by forming heterochromatin through histone modifications
    • Inactive X chromosome becomes a Barr body.

Calico Cats (Illustrative Example)

  • Calico coat color is determined by genes on the X chromosome
  • Females can have patches of different coat colors due to X chromosome inactivation
  • Males only inherit one X → cannot have a mix of colors

Secondary Sex Determination

  • Gonads secrete hormones that determine secondary sexual characteristics
  • Two phases: embryo development, puberty - Undifferentiated ducts (Mullerian and Wolffian) present in embryos. - Gonad hormones determine which ducts remain and which are removed
  • Testosterone in XY animals promotes Wolffian duct development
  • Sex hormones in XY animals degenerate Mullerian duct.
  • Estrogen promotes Mullerian duct development and external genitalia in XX animals

Secondary Sex Determination - XY

  • Leydig cells secrete testosterone (promotes Wolffian ducts and external genitalia)
  • Sertoli cells secrete AMH (causes degeneration of the Müllerian ducts)
  • These two pathways are independent

Androgen Insensitivity Syndrome

  • Individuals with XY chromosomes have a mutation in the androgen receptor
  • Testes develop normally (sertoli cells secrete AMH) but Leydig cells don’t cause Wolffian ducts to develop.
  • External female genitalia, lack internal female genitalia and internal testes

DHT

  • Testosterone must be converted to dihydrotestosterone (DHT) to masculinize structures that derive from the Wolffian duct
  • DHT is most active during prenatal and early childhood
  • Important for development of male genitalia

5-alpha Reductase Deficiency

  • Individuals lack the necessary enzyme to convert testosterone to DHT
  • At birth, they appear female but at puberty, testosterone production leads to development of male characteristics

Secondary Sex Determination - XX

  • Estrogen is needed for both males and females and from developing fetal ovaries
  • Causes differentiation of Mullerian ducts → female reproductive tract and external genitalia in XX animals

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Quiz Team

Related Documents

More Like This

Use Quizgecko on...
Browser
Browser