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 21 Down's Syndrome 13 Patau Syndrome 18 Edwards Syndrome

Trisomy
● ● ●

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 ?? XY Female, XX Male XXY Kleinfelter's XYY XXX Triple X
G. Chen 2009. Slide 8

Disomy

Trisomy
● ● ●

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 Structural problems

In FEMALES

Scarring/blockage Absence of structures Non functional ovaries

Functional problems

Endometriosis Woman has antibodies against partner’s sperm

Shared problem

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

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