1. Body development and diseases – a
molecular biological background
Elective course
2 hours per week
2. Requirements
• A successful written exam (10 test and 2 assay
questions, the score is 50:50)
• Five grade evaluation
• The score limits: 5: 176-200, 4: 151-175,
3: 126-150, 2: 101-125, 1: <100
• Do not have to apply for the exam in Neptun
Introduction
3. Allowances
• It is not obligatory to attend the lectures
• The content of the lectures will be put onto coospace
in ppt slides, also the handout of the course
• The title of the assay questions will be also put onto
CooSpace
• Every lecture starts with practicing and discussion of
5 test questions, these will be also in the ppt slides
• The successful and failed exam can be repeated 2
times in written form in the last weeks, one can only
improve mark
Introduction
5. The hemispheres of Xenopus oocyte
The animal (dark) and vegetal (shiny) pole
6. The formation of the AP and VD axis
• It starts shortly after
infertilization (entry of
the sperm)
• The cortex will rotate
counterclockwise and
this direction will
determine the future
dorso-ventral axis.
• On the dorsal side (in
the Nieuwkoop center)
WnT signal is formed
(that is a block of beta-
catenin degradation
caused by GSK3
phosphorylation)
7. The effect of nicotine on early blastocyst
(3days)
Effected Normal
8. The mechanism of ubiquitination
E1: ubiquitin-activating enzyme E2: ubiquitin-conjugating e. E3 ubiquitin-ligase e.
E1 absence – lethal, pathol. signif.: low or high activity
9. Ace regulates one of the two main pathways in
myocardial hypertrophies
10. Achondroplasia
• the prototype of short-limbed
dwarfism and the archetype of a group
of disorders that range from the much
more severe thanatophoric dysplasia
(TD) to the less severe
hypochondroplasia
• These disorders share a common qualitative clinical
phenotype dominated by short limbs, long trunk,
large head with frontal bossing, and midfacial
hypoplasia
• The average hight is about 131 cm (males) or 123
(females)
11. (B) FGFR3 dimers are stabilized by mutation (arrow) in transmembrane
domain of the receptor in achondroplasia. (C) FGFR3 dimers are induced by
formation of disulfide bonds in the proximal extracellular domain (arrow) in
TDI. (D) Kinase is constitutively activated by mutation in TDII (and to lesser
extent, in SADDAN and hypochondroplasia). Lysosomal degradation is slowed
in B-D conditions. Mb: membrane.
Proposed mechanisms
by which mutations
lead to gain of FGFR3
function
(A) Normally, ligand induces
dimerization of receptor
monomers, which activates
kinase and initiates
propagation of FGFR3 signals.
Activated FGFR3 is targeted
to and degraded by lysosomes
relatively soon after activation
Horton (2006) Growth, genetics and hormones 26(1)
12. • disorder of connective tissue
which causes skeletal defects
typically recognized in a tall,
lanky person with long limbs
and spider-like fingers, chest
abnormalities, curvature of
the spine and a particular set
of facial features including a
highly arched palate, and
crowded teeth.
Marfan syndrome
• The most significant of the defects in the syndrome are
cardiovascular abnormalities, which may include
enlargement (dilatation) of the base of the aorta.
14. • This difference has been found to gradually disappear in Japanese families that
have moved to the United States. – The risk is primarily not in heredity.
15. Cyclin and MPF in the cell cycle
• Regulation of cell cycle is also based on the stability of the proteins involved –
proteosome degradation plays an essential role in cycline decay