Lecture 06 - Sex Determination and Sex Chromosomes

Organism-to-Organism Variability: The same mutation can cause a range of

phenotypes
Penetrance: % of mutant population that exhibits a mutant phenotype
Expressivity: Range of expression of the phenotype caused by a particular mutation
o E.g. Eyeless mutants of flies: 15% shows wild-type, 40% show just smaller

eyes, and 45% show the actual no eyes, so Mutant Gene has Penetrance of 85%
Incomplete penetrance of a mutation can alter Mendelian ratios
o Not all animals with the mutation show the phenotype
o If mutations are incompletely penetrant, this can alter Mendelian ratios
o For example, if a recessive mutation (h) is 50% penetrant when homozygous, a
monohybrid cross could give this ratio in the F2:
7/8 wild-type (1/4 HH, 1/2 Hh, 1/8 hh not showing)
1/8 mutant (hh showing)
Conditional Mutations: The phenotype of a mutation can depend on environmental
conditions
o E.g. temperature-sensitive mutations (ts)
o Evening primrose produces red flowers at 23C and white flowers at 18C
o Siamese cats and Himalayan rabbits have darker fur on cooler areas of body (tail,

feet, ears)
Genomic Imprinting: Sometimes only one allele is expressed
o Maternal allele is silenced, so only mutant paternal allele is expressed
Can happen on the paternal allele too
o Imprinting makes a genotype (Aa) that should have a wild-type phenotype look
mutant(aa)
Organelle Inheritance (e.g. Mitochondrial Inheritance)
o In addition to DNA in the nucleus, there is also DNA in the mitochondria
o How are mitochondria inherited?
Remember gametogenesis difference
Spermatogenesis vs. Oogenesis
Fundamental differences between sexes:
o # of gametes produced is different
o Amount of cytoplasm deposited into gametes
o Eggs contain mitochondria
o Sperm do not (mostly)
Mitochondrial Inheritance
o Mitochondrial DNA is only inherited maternally

o Children of affected mothers have trait

o Children of affected fathers do not
Mitochondrial Mutations
o Mutations in genes encoded in the mitochondrial genome show maternal
inheritance
o Myoclonic epilepsy and ragged-red fiber disease (MERRF) (translation defect in

mitochondria
Maternal Effect Trait
o Mother deposits gene products into the egg
mRNA, protein, growth factors, etc.
o Material can contribute to the phenotype of the offspring
o Genotype of female parent, NOT the genotype of the offspring, determines the
phenotype of the offspring
o Example (Pigmentation in Ephestia aka Meal Moth)
a is a recessive gene (red eyes)
Maternal effect: Mother deposits gene product into egg
Mother (Aa) x Father (aa) All children have brown eyes, even if aa
o Another Example (Bicoid in Fly Head Formation)
Normal larva from mother with wild-type has head and tail
Larva from mother with mutant has 2 tails
Sex-Limited Inheritance
o Autosomal gene affects trait
Trait ONLY apparent in one sex
E.g. Cryptorchidism (undescended testicles)
Females: CC, Cc, or cc dont matter (no testicles
Males: CC or Cd: Normal testicles
o cc: Cryptorchidism
E.g. Pattern Baldness
Females: BB is bald, Bb or bb is not bald
Males: BB or Bb is bald, bb is not bald
Sex Chromosomes in Humans
o XX is female, XY is male
o How is sex determined?
o Different possibilities:
2 Xs determine a female (if not, a male)
Presence of Y determines a male
Klinefelter syndrome: XXY
(47,XXY)
(*TOTAL#*,XX or XY or XXY)
If XX determines, then theyd look female

If Y determines, then theyd look male

They look male, so Y determines
Turner syndrome: XO
(45,X)
If XX determines female, then XO appears male
If Y determines male, then XO appears female
XO looks female, so Y determines
Whats on a Y chromosome?
o Sex Determining Region Y (SRY) (at top of Y chromosome)
TDF (Testis Determining Factor)
Specifies male-ness
SRY deletion in Y causes XY to be female
o SRY is necessary to be physiologically male
SRY attachment to X causes XX to be male
o SRY is sufficient to be physiologically male
TDF is a transcription factor that is a master switch that causes indifferent
gonads to become testes
Just the first step in development - other genes need to be present
to complete male development