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Flashcards in Exam 3 Deck (65):
1

What is heterogamy?

True male/female
- gametes differ (sperm/egg)
- XX and XY (or ZZ and ZY)

2

Can genes necessary for survival be on the Y chromosome?

No

Genes on Y chromosome are accessory genes
- such as to make sperm etc

3

If the Y chromosome contains accessory genes only, then what type of chromosome is the X chromosome?

X is a normal chromosome
- everyone needs it to be alive
- carries genes necessary for survival

4

What is isogamy?

no true male/female
- gametes from each mating time are identical

5

What is the difference between homogametic sex and heterogametic sex?

Homogametic sex: 2 like chromosomes (XX)

Heterogametic sex: 2 unlike chromosomes (XY)

6

What kind of sex determination system do bees have?

Haplo-Diplo system

Females: Diploid (fertilized eggs)

Males: Haploid (unfertilized eggs)
- produce sperm through mitosis

No sex chromosomes

7

What is genic balance?

Sex determined by ratio of copies of X's to copies of autosomes

Typical female: 2 copies of X's & 2 sets of autosomes
- ratio = 1:1 (1.0)
Typical male: 1 copy of X & 2 copies of autosomes
- ratio = 1:2 (0.5)

8

According to genic balance, if a female accidentally had a XXY genetic makeup what would be the result?

The female would be normal and fertile because the ratio is still 2 copies of X & 2 copies of autosomes
- ratio still 1.0 so normal female

9

According to genic balance, if the ratio of X's to autosomes is different that 1.0 or 0.5 what occurs?

sterile,reduced viability or intersex

10

Which animal's gender is determined by genic balance?

drosophilia (fruit flies

11

In simplest terms, how is sex determined in humans?

Presence of Y = male

Absence of Y = female

12

What is the significant of the Y chromosome for male development?

One Gene on the Y chromosome needed for development of undifferentiated gonadal tissue into testes

Testes produces testosterone early and causes cascade in development of genitalia

13

What is the male gene on the Y chromosome?

SRY gene is the sex determining region of the Y chromosome

Master regulatory gene for sex determination

produces protein that is transcription factror
- this transcription factor binds DNA and turns transcription of male genes on
- testes development->testosterone->male characteristics

No SRY = female cascade

14

How can a person with the SRY gene develop as a female?

If you have 2 copies of the DAX-1 gene then it deletes the SRY gene
- default is female cascade

Regular is 1 copy of DAX-1
- normal male development`

15

To develop internal male genitalia what hormone is required? To develop external male genitalia what hormone is required?

Testosterone will develop internal male genitalia

Dihydrotestosterone will develop external male genitalia

16

What is the basic overview of human sexual determination?

Begin undifferentiated embryo

SRY gene triggers development of testes
- absence of SRY gene = development of ovaries (default)

Testes release Testosterone
- development of internal male genitalia
- dihydrotestosterone needed to develop external genitalia

Ovaries release estrogen
- development of internal genitalia+ external genitalia

17

What are the three genes that we covered that affect phenotypic sex? (changes in sexual development)

These are all mendellian (single gene)

1. Androgen insensitivity
2. Guevodoces
3. Congenital adrenal hyperplasia

18

What is androgen insensitivity syndrome?

Have an XY chromosome
- genetically males
- phenotypically normal females

No menstruation (typically discovered at puberty)
- No cervix or uterus but undeveloped testes

Cause: gene that codes for androgen receptor protein not functioning = no testosterone gets into cells = no differentiation into male (like not even there)

19

Do ppl w/ androgen insensitivity syndrome (AIS) have the SRY gene?

Yes. They have testes that produce testosterone but no functional receptors on cells so it doesn't get in the cells

20

What kind of allele is AIS? What are the possible genotypes?

Sex linked Recessive

X^A X^A = Normal Female
X^A X^a = Female Carrier
X^A Y = Male
X^a Y = AIS Female

21

What is guevodoces?

Born w/ ambiguous genitalia
- at puberty definite masculinity occurs
- become 100% functional men

Cause:
- autosomal recessive alleles affect testosterone metabolism
- gene that produces enzyme that converts testosterone to dihydrotestosterone (DHT) not functioning
- no conversion of testosterone to DHT so no development of external male genitalia
- huge surge in testosterone at puberty overrides need for DHT and develops external male genitalia

22

What enzyme converts testosterone to dihydrotestosterone?

5a- reductase

23

What is congenital adrenal hyperplasia?

Masculinization of females
Males w/ it aren't feminized but have other complications

Defect in enzyme that converts precursor molecules in to cortisol
- Autosomal recessive (homozygous dominant or heterozygous = able to make cortisol)
- precursor molecules are converted to testosterone instead of cortisol

24

Do sex chromosomes follow diploid model?

No

Diploidy is having 2 copies of homologous chromosomes
- X & Y are not homologous (don't carry same genes)

25

What is hemizygous?

Males are hemizygous for whatever trait you're looking at
- 1 copy of X chromosome (w/ trait) 1 copy of Y
- the sex linked trait will be on X chromosome
- so male can be aY or AY for trait

Females can be homozygous or heterozygous
- AA, Aa, aa
- just like autosomal traits

26

What is sex linkage?

trait on the X chromosome

Male will have the trait or not
- know male genotype from his phenotype

Females can be carriers so you don't know genotype from phenotype

27

What is the difference between reciprocal crosses and test crosses?

Test crosses are used to determine genotype of parent
- offspring x homozygous recessive

Reciprocal crosses are used to determine if a trait is sex linked
- you'll get different results from crosses if sex linked than if autosomal

28

How can you determine if a trait is sex linked?

reciprocal crosses

if you get males of one phenotype and females of another then the likely explanation is that the trait is sex linked

rr x RY can show that this trait is sex linked

R Y
r Rr rY Red female and White male

RR x rY doesn't necessarily show trait is sex linked (do both) b/c its just like autosomal trait (cross Homozygous Dominant x recessive)

r Y
R Rr RY Red female and Red male

29

For drosophilia eyes, what tare the results of this cross?

Rr x RY

R Y
R RR RY
r Rr rY

For sex linked traits keep sexes separate
- so 2:1:1 ratio
- 2 red females, 1 red male, 1 white male
- 3 phenotypic classes so 2 degrees of freedom

30

For drosophilia eyes, what tare the results of this cross?

Rr x rY

r Y
R Rr RY
r rr rY

1:1:1:1 ratio
- 1 red female, 1 white female, 1 red male, 1 white male
- 3 degrees of freedom

31

What kinds of traits show up in males more than females?

Sex linked recessive traits

32

What are the possible genotypes for hemophilia? How is it normally passed on?

Females
- HH: normal, non carrier
- Hh: normal, carrier
- hh: hemophiliac

Male
- HY: normal
- hY: hemophiliac

Normally passed from carrier mother to son

33

How does a female get a sex linked recessive trait?

The father MUST have the trait and the mother must either have it or be a carrier

That's why a sex linked recessive trait usually shows up in males more often

If father has the trait then the daughter will at least be a carrier (has to get his X chromosome)

34

Does the father have to have the trait in order for a son to receive a sex linked recessive trait like hemophilia?

No

H Y
H HH HY
h Hh hY

hemophiliac son

35

Can a sex linked trait be passed from father to son?

No, father is passing on his Y chromosome to his son
- not his X chromosome

36

If you're looking at a pedigree, how can you rule out sex linkage?

If you see a girl with the trait but her dad doesn't have it then the trait must be autosomal

37

For hemophilia you cross a carrier mom and normal father.
-What is the chance the offspring has hemophilia?
-What is the chance you have a girl with hemophilia?
- What is the chance you have a boy with hemophilia?

H Y
H HH HY
h Hh hY

1/4 chance offspring has hemophilia
0% chance girl w/ hemophilia
1/2 chance boy w/ hemophilia

38

Do traits skip generations?

They appear to skip generations when passed to carrier daughters
- can reappear next generation from carrier mom

39

What are X linked dominants and Y linked traits?

X linked dominants tend to be more prevalent in females
- opposite of sex linked recessive traits which show up more in males

Y linked traits only occur in males
- passed from father to each son

40

What is Dosage Compensation and X Inactivation?

Same thing.

Natures way of being fair
- females can be homozygous or heterozygous
- men can only be hemizygous

Females don't have twice the number of active X-linked genes as males
- mechanism so that one of the X chromosomes inactivates (condenses) and becomes a barr body
- if someone has more that 1 X chromosome then the extra X condenses into barr body

41

How many barr bodies does a female have? How many does a male have?

Female has 1 barr body

Male has 0 barr bodies

42

Is the barr body completely inactive? How do you know?

It is partially active

know this because in ppl who have an extra X chromosome that turns into barr body there is health issues

function best w/ just one copy of genes on X chromosome

43

What are some dosage compensation and X inactivation anomalies?

XO - Turner syndrome
- female w/ no Barr body

XXX - female
- 2 barr bodies

XXY - Klinefelter syndrome
- male w/ 1 barr body

44

What is the Lyon hypothesis? What impact does this have on homo and heterozygotes?

Which X inactivates to become a Barr body is random
- occurs early in embryonic development
- all descendents of that cell (mitotic copies) have same X chromosome inactivated

Homozygotes have no impact
- AA -> AO or OA
- aa -> aO or Oa
- same no matter which inactivates

Heterozygotes
- Aa -> AO or Oa
- end up w/ patches of cells w/ 1 X inactivated and others patches w/ the other X inactivated

45

What is mosaicism?

patches of cells w/ different phenotypes

heterozygote female has the different alleles inactivate during embryonic development and then replicate

46

What is genic interaction?

interactions between more than 1 gene to determine phenotype

47

How does dominance influence allelic actions?

The dominant allele will USUALLY code for production of a functional protein
- eg. P => purple pigment (mendels pea plant example)

The recessive allele does not code for a functional protein
- eg. p => no pigment

hemophilia - dominant allele gives you clotting factor and the recessive allele gives you nothing

48

If you have two alleles and its not a simple case of one working (dominant) and the other not (recessive), what occurs?

Incomplete dominance: phenotype is visible

Co-Dominance: detect phenotype any way other than visiually

Both alleles code for different but FUNCTIONAL protein
- heterozygote shows phenotype different from either homozygote

49

If carnations are incomplete dominance, R codes for red pigment and W codes for white pigment, what would RW be? Could you continuously produce this color offspring through crosses?

RW = Red+White = Pink flower

Can't continuously produce pink flowers b/c

R W
R RR RW
W RW WW

1/2 are pink, 1/4 are red and 1/4 are white 1:2:1 ratio

50

What is a way to tell the difference between incomplete and co-dominance other than visual/non-visual?

If heterozygote shows a BLEND then alleles are incompletely dominant

If heterozygote shows BOTH then alleles are co-dominant

Bothe alleles are functioning!

51

What impact does having multiple alleles (greater than 2) have?

The individual person can only have 2 alleles at most for a gene at a particular locus (at most heterozygous)

However, multiple alleles is a population level phenomenon
- there may be 3 or more alleles in the population

52

If you have 3 alleles in the population, A B C, how many genotypes can you have?

6 genotypes
- 3x2x1
- AA BB CC AB AC BC

53

For ABO Blood grouping, is this co-dominance or incomplete dominance?

These 3 alleles have Co-dominance and a dominant recessive relationship
- A is co-dominant to B but both are dominant to O
- O is non-functional (doesn't code for surface antigens)
- since O is not making anything it's recessive

54

Somebody has an AO genotype (ABO Blood grouping) what will their blood type be? What would be the results of the following cross AB x AO?

AO genotype = Type A blood

A O
A AA AO
B AB BO

1:2:1 ratio
- 2 Type A, 1 type AB, 1 type B

55

C^+ is agouti, C^ch is chinchilla (dark grey), C^h is himalayan (white w/ black tips), C^a is albino

C^+ is dominant to all others
C^ch is incompletely dominant to C^h and C^a
C^h is dominant to C^a

C^+ and anything else => ?
C^ch C^ch => ?
C^ch C^a => ?
C^ch C^h => ?
C^h C^h or C^h C^a => ?
C^a C^a => ?

C^+ and anything else => agouti

C^ch C^ch => Chinchilla

C^ch C^a => Light Grey Blend

C^ch C^h => Light Grey blend w/ dark tips

C^h C^h or C^h C^a => Himalayan

C^a C^a => Albino

Many Genotypes (24) but only 6 Phenotypes

56

What are lethal alleles?

Alleles that have an unrelated secondary effect causing death
- tend to be RECESSIVE and don't code for a protein necessary to live
- dominant to one allele but lethal recessively

57

When Cuenot was breeding his yellow haired mice, why didn't he ever produce true breeding (homozygous) yellow mice?

Every time he would breed yellow mice he would see a 2:1 ratio (1/3 would be agouti)

He realized when he backcrossed the yellow's w/ agouti that the yellow's were heterozygotes
- so he should have seen a 3:1 ratio when crossing 2 yelllow mice

The yellow allele is recessive lethal (but dominant to agouti)
- 1/4 of the mice were dying as embryos b/c lethal allele

Yellow (A^Y A^+) X Yellow (A^Y A^+)
A^Y A^+
A^Y A^y A^y A^y A^+
A^+ A^y A^+ A^+A^+

The A^y A^y were dying off embryonically and the surviving were either heterozygote yellow or agouti

58

What is achondroplasia?

Form of short limbed dwarfism
- mutation in gene that codes for growth factor receptor protein = can't take up protein needed to grow long bones

Dominant but recessive lethal allele
- Homozygous = lethal
- Heterozygous = healthy but dwarf phenotypically

59

What are the results of 2 individuals w/ achondroplasia?


Dwarf (a^A a^+) X Dwarf (a^A a^+)

a^A a^+
a^A a^A a^A a^A a^+
a^+ a^+ a^A a^+ a^+

1/4 die as embryo (a^A a^A)
2:1 Ratio Dwarf to normal

60

What are genic interactions w/ multiple alles?

Two or more genes acting on one trait
- gives you novel phenotypes
- eg AB = Blue, Ab = pink, ab = black, aB = Red
- epistasis: one gene can mask another gene

61

Crossed a Red eyed X White eyed fruit flies (drosophilia).

P: Red Eyed X White Eyed

F1: Red Eyed
- Cross Red Eyed X Red Eyed

F2: 9 Red Eyed, 3 Brown Eyed, 3 Scarlet Eyed, 1 White Eye

What is going on?

You would have expected to get a 3:1 ratio of Red Eyed to White Eyed

What we got is a Dihybrid ratio (9:3:3:1) indicating that there is a genic interaction of 2 or more genes acting on single trait to give you novel phenotypes (scarlet and brown colors came out of nowhere)

62

How are the new eye colors created in drosophilia?

Genic interaction of multiple genes acting on single trait (eye color) yielding novel phenotypes

S allele controls production of brown pigment
B allele control production of Scarlet pigment
- 2 independent pathways to make an enzyme that converts a compound into the colored pigment

CPD Y => Enzyme S => Brown
CPDX => Enzyme B => Scarlet

Brown Pigment + Scarlet Pigment => Red Pigment
- can have allele that doesn't create any enzyme = white

63

With incomplete or co-dominance what is the maximum number of phenotypes you can have with a monohybrid?

Monohybrid max is 3 phenotypes (AA, Ab, bb)
- 1 locus

Dihybrid max is 4 phenotypes (A_B_, A_bb, aaB_, aabb)
- 2 loci

64

What is epistasis?

One gene masks a second gene

Each gene codes for an enzyme critical in a step in a linear metabolic pathway

Any gene that acts earlier in a pathway will be epistatic
- it will mask the genes that come later in the pathway

Get weird ratios

65

What does the following tell you about what is going on?

B = Agouti A = non-albino
b = Black a = albino

A_B_ = agouti
A_bb = black
aa_ _ = albino

This shows that if your have the albino alleles (homozygous recessive) then you can't be agouti or black
- this means albino comes earlier in the linear pathway

If you the Agouti and non-albino alleles then you become agouti
- must be at the end of the pathway

If you have non-albino allele but not agouti allele then you end up black
- in the middle

Colorless precursor =(enzyme A)=> Black pigment
=(enzyme B)=> Agouti pigment