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Questions and Answers
What genetic combination leads to the formation of ovaries in mammals?
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?
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?
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?
In Drosophila, how is the sexual phenotype determined?
What type of cells do mammalian gonads produce?
What type of cells do mammalian gonads produce?
What chromosomal combination results in a genetically male mammal?
What chromosomal combination results in a genetically male mammal?
What is a bipotential gonad?
What is a bipotential gonad?
What could potentially result from errors in meiosis during gamete formation?
What could potentially result from errors in meiosis during gamete formation?
What is the outcome for individuals with a single X chromosome?
What is the outcome for individuals with a single X chromosome?
What initiates the development of testis in mammals?
What initiates the development of testis in mammals?
What is a characteristic of individuals with Klinefelter syndrome (XXY)?
What is a characteristic of individuals with Klinefelter syndrome (XXY)?
How does the presence of XY or XX chromosomes affect the fate of bipotential cells in early gonads?
How does the presence of XY or XX chromosomes affect the fate of bipotential cells in early gonads?
What determines secondary sex characteristics in mammals?
What determines secondary sex characteristics in mammals?
What is a potential consequence of having extra X chromosomes (e.g., XXX)?
What is a potential consequence of having extra X chromosomes (e.g., XXX)?
What hormonal type is typically elevated in individuals with Klinefelter syndrome?
What hormonal type is typically elevated in individuals with Klinefelter syndrome?
Which of the following conditions is characterized by the absence of a sex chromosome (X0)?
Which of the following conditions is characterized by the absence of a sex chromosome (X0)?
What is the primary role of Sry in sex determination?
What is the primary role of Sry in sex determination?
Which hormone is secreted by testis to maintain the Wolffian duct?
Which hormone is secreted by testis to maintain the Wolffian duct?
What can cause a 46,XX individual to develop male genitalia?
What can cause a 46,XX individual to develop male genitalia?
What occurs during secondary sex determination?
What occurs during secondary sex determination?
What happens to the Wolffian duct in females?
What happens to the Wolffian duct in females?
How does Sox9 contribute to testis formation?
How does Sox9 contribute to testis formation?
What is the outcome of a deletion or mutation in the SRY gene in a 46,XY individual?
What is the outcome of a deletion or mutation in the SRY gene in a 46,XY individual?
What is the primary mechanism by which Sox9 is activated in birds, fish, and frogs?
What is the primary mechanism by which Sox9 is activated in birds, fish, and frogs?
What roles do the genes Sf1, Wt1, Lhx9, and Gata4 play in sex determination?
What roles do the genes Sf1, Wt1, Lhx9, and Gata4 play in sex determination?
Which of the following is true regarding the Sry gene?
Which of the following is true regarding the Sry gene?
What occurs to germ stem cells during week 6 of development?
What occurs to germ stem cells during week 6 of development?
What is the primary role of β-catenin in sex determination?
What is the primary role of β-catenin in sex determination?
What happens to individuals with Rspo1 mutations?
What happens to individuals with Rspo1 mutations?
How does a duplication of the region on chromosome 1 that includes Wnt4 and Rspo1 affect XY individuals?
How does a duplication of the region on chromosome 1 that includes Wnt4 and Rspo1 affect XY individuals?
Which process describes how the gonad influences germ cell fate?
Which process describes how the gonad influences germ cell fate?
What indicates the start of sexual differentiation in human gonadal tissue?
What indicates the start of sexual differentiation in human gonadal tissue?
What is the role of estrogen in the development of the female reproductive tract?
What is the role of estrogen in the development of the female reproductive tract?
Why do male estrogen receptor knockout mice become sterile?
Why do male estrogen receptor knockout mice become sterile?
What happens to the X chromosome that is inactivated in female mammals?
What happens to the X chromosome that is inactivated in female mammals?
What is a characteristic feature of calico cats related to genetics?
What is a characteristic feature of calico cats related to genetics?
Why are male cats typically not calico?
Why are male cats typically not calico?
What hormone is secreted by Sertoli cells?
What hormone is secreted by Sertoli cells?
What is the result of a mutation in the receptor that responds to testosterone in individuals with androgen insensitivity syndrome?
What is the result of a mutation in the receptor that responds to testosterone in individuals with androgen insensitivity syndrome?
What is the primary effect of dihydrotestosterone (DHT) during prenatal development?
What is the primary effect of dihydrotestosterone (DHT) during prenatal development?
Which of the following describes the genetic composition of individuals with androgen insensitivity syndrome?
Which of the following describes the genetic composition of individuals with androgen insensitivity syndrome?
In individuals with 5-alpha reductase deficiency, what happens at puberty?
In individuals with 5-alpha reductase deficiency, what happens at puberty?
What condition results from the secretion of testosterone but no response due to receptor mutation?
What condition results from the secretion of testosterone but no response due to receptor mutation?
Which cells are responsible for the degeneration of the Mullerian duct?
Which cells are responsible for the degeneration of the Mullerian duct?
What characterizes the external genitalia of individuals with androgen insensitivity syndrome?
What characterizes the external genitalia of individuals with androgen insensitivity syndrome?
Flashcards
Mammalian Sex Determination
Mammalian Sex Determination
The process by which genetic factors (chromosomes) determine whether an embryo develops into a male or a female.
XY Chromosomes (mammals)
XY Chromosomes (mammals)
In mammals, the presence of a Y chromosome usually leads to the development of testes.
XX Chromosomes (mammals)
XX Chromosomes (mammals)
In mammals, the presence of two X chromosomes usually leads to the development of ovaries.
Bipotential Gonad
Bipotential Gonad
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Gametogenesis
Gametogenesis
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Spermatogenesis
Spermatogenesis
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Oogenesis
Oogenesis
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Sex Chromosomes
Sex Chromosomes
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Environmental Sex Determination
Environmental Sex Determination
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Chromosomal Sex Determination
Chromosomal Sex Determination
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Mammalian sex determination
Mammalian sex determination
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Y chromosome's role in sex determination
Y chromosome's role in sex determination
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Turner Syndrome (XO)
Turner Syndrome (XO)
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Klinefelter Syndrome (XXY)
Klinefelter Syndrome (XXY)
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Primary Sex Determination
Primary Sex Determination
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Secondary Sex Determination
Secondary Sex Determination
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Sex Chromosomes (XY or XX)
Sex Chromosomes (XY or XX)
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Abnormal Sex Chromosome Amounts
Abnormal Sex Chromosome Amounts
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Primary Sex Determination
Primary Sex Determination
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Genital Ridge
Genital Ridge
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Bipotential Gonad
Bipotential Gonad
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Sry Gene
Sry Gene
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Sox9
Sox9
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Wnt4 and Rspo1
Wnt4 and Rspo1
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β-catenin
β-catenin
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Sex Chromosome Determination
Sex Chromosome Determination
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46,XX
46,XX
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46,XY
46,XY
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Secondary Sex Determination
Secondary Sex Determination
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Leydig cells
Leydig cells
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Sertoli cells
Sertoli cells
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Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome
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Anti-Mullerian Hormone (AMH)
Anti-Mullerian Hormone (AMH)
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Wolffian ducts
Wolffian ducts
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Mullerian ducts
Mullerian ducts
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5-alpha reductase deficiency
5-alpha reductase deficiency
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Dihydrotestosterone (DHT)
Dihydrotestosterone (DHT)
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Secondary sex determination (XX)
Secondary sex determination (XX)
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Estrogen's importance
Estrogen's importance
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Estrogen receptor knockout (mice)
Estrogen receptor knockout (mice)
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X chromosome inactivation
X chromosome inactivation
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Barr body
Barr body
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Calico cat coat color
Calico cat coat color
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Sry's Role
Sry's Role
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Sox9's Function
Sox9's Function
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Mammalian Sex Determination
Mammalian Sex Determination
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SRY-positive 46,XX
SRY-positive 46,XX
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SRY-negative 46,XX
SRY-negative 46,XX
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46,XY Gonadal Dysgenesis
46,XY Gonadal Dysgenesis
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Secondary Sex Determination
Secondary Sex Determination
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Mullerian Duct
Mullerian Duct
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Wolffian Duct
Wolffian Duct
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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
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