Sex Determination (12,13) Flashcards

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1
Q

What does ‘dominant male’ system refer to?

a. The absence of SRY leads to the development of the testis
b. The male phenotype is the default pathway
c. If SRY is present, a male should develop
d. Someone needs two copies of SRY to develop a male phenotype

A

c. If SRY is present, a male should develo

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2
Q

What is a feature of the SRY location?

a. It is within the PAR on the q arm of the Y chromosome
b. The location means that crossing over between X and Y chromosomes will never result in the exchange of SRY
c. It is close to the PAR on the Y chromosome p arm
d. It is in region 1A2 on the q arm of the Y chromosome

A

c. It is close to the PAR on the Y chromosome p arm

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3
Q

What was involved in cloning and identifying the SRY location?

a. Looking for the smallest deleted region on Y chromosomes in male carriers
b. Looking for the smallest fragments of Y chromosomes added to X chromosomes in the females
c. Finding the region that was present in the XY females and absent in the XX males
d. Determining that the SRY was in the region where the smallest insert made XX male and shortest deletion made XY female overlap

A

d. Determining that the SRY was in the region where the smallest insert made XX male and shortest deletion made XY female overlap

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4
Q

What is involved in the development of testes or ovaries?

a. After 5 weeks, a gonadal ridge forms from the mesonephros and germ cells migrate to the ridge
b. Sex is majorly determined by growth rate, which is more rapid in females
c. Ovary differentiation begins at 6 weeks, weeks before testes tissue differentiation
d. Females secret androgens and antimullerian hormone (AMH) to prevent to development of the mullerian duct

A

a. After 5 weeks, a gonadal ridge forms from the mesonephros and germ cells migrate to the ridge

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5
Q

What makes up the SRY gene?

a. It has several TATA boxes that are conserved between species
b. It has a conserved 80AA HMG box that shares high homology to the SRY of other mammals
c. It has several exons but little homology between species
d. It has a conserved SOX-box which shares high homology with other human genes

A

b. It has a conserved 80AA HMG box that shares high homology to the SRY of other mammals

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6
Q

What is false about SOX genes?

a. They have a Sox box which is an HMG box 70% homologous to that of SRY
b. SOX stands for SRY related box
c. SOX 3 is thought to be an ancestor of SRY and functions in brain development
d. 50% of XY females have mutation in SOX9 or SOX8

A

d. 50% of XY females have mutation in SOX9 or SOX8

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7
Q

What is false about the action of SRY as a transcription factor?

a. It binds to the minor groove of DNA and bends it at a 60 degree angle
b. The TAACAATAG binding site is also recognised by SOX genes
c. In mice, it contains a glutamine repeat region essential for testis development
d. The Sip-1 sequence in SRY is an important nuclear localisation signal

A

d. The Sip-1 sequence in SRY is an important nuclear localisation signal

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8
Q

• On day 11 of development, mice have 1500 sexually dimorphic genes expressed even though the gonad is morphologically indistinct.

A

T

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9
Q

• Female mice express one gene that alters the expression of 1500 genes in the ovary.

A

F (200)

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10
Q

• The events for correct gonadal development of secondary characteristics for a male or female phenotype are classified as part of sex determination. (differentiation)

A

F

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11
Q

• 50-70% of genes are expressed in a sex biased manner, although the mean difference is only 10%.

A

T

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12
Q

• Bovines have 1274 transcribed Y chromosome genes which are mostly expressed during testis development.

A

T

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13
Q

• The male phenotype is the default pathway in humans.

A

F

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14
Q

• XY females and XX males can result from a crossover that transfers the SRY locus to the X chromosome.

A

T

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15
Q

• Homology between mammals is greatest at the level of DNA.

A

F

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16
Q

• For the first 5 weeks, there is no detectable morphological difference between male and female destined embryos.

A

T

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17
Q

• Male reproductive tracts develop from the Mullerian duct and female reproductive tracts develop from the Wolfian duct.

A

F

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18
Q

• Secondary sex characteristics develop at puberty for both males and females.

A

T

19
Q

• The SRY protein product is much smaller in mice (204AA) than in humans (395AA).

A

F

20
Q

• Removing the glutamine repeat region in the mouse prevents the transcription of Sry, yet testis still develop.

A

F

21
Q

What is an important developmental event that occurs by the sixth week in male development?

a. Mullerian ducts begin to develop
b. The testis develop and secret sertoli cells
c. Sertoli cells of the testis develop
d. Development of sertoli cells inhibits wolifian duct formation

A

c. Sertoli cells of the testis develop

22
Q

What is false about parentally imprinted genes?

a. The genes are always on the Y chromosome
b. X genes with maternal imprint function under the restraint of that imprint in male cells
c. Female cells have half their genes imprinting by the female parent and half imprinted by the male parent
d. Parental imprinting of X chromosome genes can influence adult cognitive and social behaviours

A

a. The genes are always on the Y chromosome

23
Q

What is the significance of meiosis during sex determination?

a. An ovary cannot develop once a germ cell has entered meiosis
b. Sertoli cells block the onset of meiosis so testis can form
c. Ovary to testis formation can only occur during a brief window in early development
d. The XX embryo grows rapidly due to high levels of meiosis

A

b. Sertoli cells block the onset of meiosis so testis can form

24
Q

What is not a feature of WT1?

a. It has 4 zinc fingers
b. It functions downstream of SRY
c. It induces the outgrowth of the gonadal ridge in males and females
d. Mutating its zinc fingers can result in XY individuals developing as female

A

b. It functions downstream of SRY

25
Q

What is true about the alternative forms of WT1?

a. -KTS is involved in RNA processing and stabilising the SRY transcript
b. Knocking out +KTS leads to an XY ovary and no AMH production
c. +KTS is a classic transcription factor that activates SRY
d. Overexpression of –KTS results in an undifferentiated gonad

A

b. Knocking out +KTS leads to an XY ovary and no AMH production

26
Q

What induces the AMH gene?

a. Sry
b. Wt1
c. SOX9
d. TES

A

c. SOX9

27
Q

What describes a result of a mutation of SOX9?

a. Duplication can lead to campomelic dysplasia
b. Deletion can lead to XX males
c. Too much SOX9 can cause male development even in the absence of SRY
d. A lack of SOX9 results of gonadal dysgenesis and skeletal malformation

A

c. Too much SOX9 can cause male development even in the absence of SRY

28
Q

What is the role of Dax1?

a. It prevents NR5A1 binding to TES
b. It plays a crucial role in ovary development
c. It regulates steroid biosynthesis by binding SOX9
d. It acts with SRY to upregulate SOX9

A

a. It prevents NR5A1 binding to TES

29
Q

How do DAX1, WNT, RSPO1 and FOXL2 influence sexual development?

a. DAX1, WNT and RSPO1 suppress SOX9 in the XY gonad
b. Knocking out DAX1, WNT and RSPO1 represses FOXL2
c. When FOXL2 in knocked out, SOX9 is upregulated and a testis can develop
d. Knocking out WNT, RSPO1, FOXL2, SOX9 in the XX gonad results in undifferentiated gonads

A

c. When FOXL2 in knocked out, SOX9 is upregulated and a testis can develop

30
Q

How might an XY ovary develop?

a. Due to a mutation in DMRT1 which usually suppresses FOXL2
b. Due to the overexpression of SRY
c. Following upregulation of SOX9 and SOX3
d. Due to over production of sertoli cells

A

a. Due to a mutation in DMRT1 which usually suppresses FOXL2

31
Q

• Male embryos grow more rapidly than female embryos.

A

T

32
Q

• Y chromosome genes have male and female determining effects.

A

F

33
Q

• X chromosome genes impart their effects after the onset of X inactivation when there is a 1:1 X chromosome ratio in females.

A

F

34
Q

• XIST inactivates genes that cause female somatic cells to be different to male cells and the barr body is produced.

A

T

35
Q

• Midbrain cells between sexes exhibit different levels of tyrosine hydroxylase expression only after gonads begin making hormones.

A

F

36
Q

• Sex determining genes do not have other roles in development.

A

F

37
Q

• Sertoli cells can only be XY and the absence of Sry leads to them developing as pregranulosa (ovarian) cells instead.

A

T

38
Q

• NR5A1 inhibits binding of SRY to target DNA such as WDR5.

A

F

39
Q

• SRY and NR5A1 bind to the TES of SOX9 and cofactors WDR5 and CITED2 to upregulate SOX9.

A

T

40
Q

• SOX9 is involved in feedback regulation to block SRY and auto-regulate itself.

A

T

41
Q

• FOXl2 null mice are sterile and show defects of early ovarian development.

A

F (no development defects)

42
Q

• The OD model suggests that a gene is required for ovary development rather than the pathway just being default.

A

T

43
Q

• Unlike mammals, the sexual phenotype of the gonads and body of drosophila are controlled by the same genes.

A

T