47

DAYS UNTIL
FINAL

BIMM 110 Section 3

George Chen
gtchen@ucsd.edu
OH: Tu 12:30-1:30p Sierra Summit

G. Chen 2009. Slide 1

 Questions from last section
● How does a male's X chromosome know not
to inactivate?
● In Kleinfelter's and Triple-X syndrome, are
the extra X chromosomes inactivated?

G. Chen 2009. Slide 2

 Nondisjunction related genetic
diseases
● Autosomal
● Monosomy
● None viable
● Several partial deletions
● Trisomy
● 21 Down's Syndrome
● 13 Patau Syndrome
● 18 Edwards Syndrome

G. Chen 2009. Slide 3

Nondisjunction and maternal age
● Possible theory explaining increased risk of
nondisjunction related to maternal age is that
constant hormone exposure somehow
negatively affects premature eggs.

G. Chen 2009. Slide 4

 Down Syndrome and AD
● Alzheimer's Disease is caused by amyloid
precursor protein (APP) accumulated in
amyloid-beta deposits and tau proteins
accumulated in neurofibrillary tangles
● Downs patients have excessive amounts of
APP, leading to early onset AD
● APP gene is on chromosome 21

G. Chen 2009. Slide 5

 Patau Syndrome
● Severe mental retardation
● Small eyes, split in iris
● Cleft palate
● Weak muscle tone
● Increased risk of heart defects

G. Chen 2009. Slide 6

 Edwards Syndrome
● Heart defects
● Kidney problem
● Developmental delays

G. Chen 2009. Slide 7

 Sex Related
● Monosomy
● XO Turner's
● YO ??
● Disomy
● XY Female, XX Male
● Trisomy
● XXY Kleinfelter's
● XYY
● XXX Triple X
G. Chen 2009. Slide 8
 Turners
● No mental retardation
● Congenital heart disease
● Kidney problems
● Infertile
● Treated with growth hormone

G. Chen 2009. Slide 9

 PARs
● Pseudoautosomal regions found at tips of X
and Y chromosomes
● Mutant SHOX have shorter stature
● 2 copies of SHOX required for proper height
development

G. Chen 2009. Slide 10

 XX Male, XY Female
● Treated with hormone replacement
● Caused by deletions, crossing over

G. Chen 2009. Slide 11

 Kleinfelter's (XXY)
● IQ from well below to well above average
● Behavioral problems
● Hypogonadism, hypogenitalism
● Treated with testosterone replacement

G. Chen 2009. Slide 12

 XYY
● Fertile, will give birth to normal offspring
● Normal IQ
● Behavioral problems – once thought linked to
delinquency

G. Chen 2009. Slide 13

 XXX
● Fertile, will give birth to normal offspring
● Quiet
● Delayed development

G. Chen 2009. Slide 14

 Sex differentiation
● Mesonephric duct
= Wolffian duct
● Paramesonephric
duct = Mullerian
duct
● Requires Y
chromosome for
differentiation

G. Chen 2009. Slide 15

 Sex Differentiation
● SRY (Sex determining region Y) encodes for
a protein TDF (Testes determining factor)
● Production of testosterone leads to
development of male genitalia
● Production of Mullerian Inhibiting Substance
from Sertoli cells inhibits Mullerian ducts from
developing into female genitalia
● Default pathway is female

G. Chen 2009. Slide 16

 Gamete formation
● Spermatogenesis
● Oogenesis

G. Chen 2009. Slide 17

 Fertilization
● Sperm acrosome releases
Hyleuronidase, an enzyme to
break down the 'glue' holding the
corona radiata together
● Sperm wedges into zona
pellucida, binds to ZP3 receptor
● Acrosome contents exocytosed,
zona pellucida locally broken
down
● Fusion of acrosome and egg
causes fusion of cortical granules
to membrane preventing
polyspermy
G. Chen 2009. Slide 18
 Infertility
In MALES
● Low sperm count
● Poor sperm health
In FEMALES
● Structural problems
● Scarring/blockage
● Absence of structures
● Functional problems
● Non functional ovaries
● Endometriosis
Shared problem
● Woman has antibodies against partner’s sperm
G. Chen 2009. Slide 19
Artificial Reproductive Techniques
● In Vitro Fertilization
● Zygote Intrafallopian Transfer
● Gamete Intrafallopian Transfer
● Intracytoplasmic Sperm Injection

G. Chen 2009. Slide 20