25 Questions
What is the main advantage of using genetically modified mice in genetic experiments?
They can be genetically manipulated to express or not express specific genes being tested
What is the role of HOX genes in developmental genetics?
They establish spatial and temporal patterns of gene expression along the axis
What is the definition of paralog as it applies to homeobox genes?
Homologous sequences of genes within the same genome
What is the consequence of a homeotic transformation?
Segment identity is altered due to the missing gene, resulting in transformation of the segment
What are the dual functions of IPF1 in pancreas development and function?
Required for beta cells to express insulin and necessary for the formation of the pancreas during development
How do paracrine signal molecules primarily interact with nearby cells?
They are secreted into the intercellular space and diffuse to nearby cells
Which family of paracrine signal molecules is known to be related to diverse organisms?
Wingless family (Wnt)
What do DNA transcription factors primarily bind to in order to regulate gene expression?
DNA
Which family of DNA transcription factors is known to cause pleiotropic effects when mutated?
Homeobox – HOX, PAX, EMX, MSX
What is the primary function of extracellular matrix proteins in embryonic development?
Facilitate cell migration by providing a matrix for migration
Which proteins act as a link between the extracellular matrix (ECM) and the cytoskeleton?
Integrins
How do cells primarily bind to the extracellular matrix (ECM)?
Using specific proteins such as integrins
What is the main role of paracrine signal molecules in causing gene expression changes?
Phosphorylation of proteins and signal transduction cascades
Which mutation leads to Supravalvular aortic stenosis, affecting heart and blood vessels?
Elastin mutation
What is the result of a mutation in FGFR3?
Skeletal dysplasias
Which factor stimulates limb growth?
FGF2
What is the role of SHH in limb bud development?
Maintains the apical ectodermal ridge (AER)
What does a mutation in SOX10 cause?
Hirschsprung disease
Which mutation leads to Junctional Epidermolysis bullosa, causing skin blistering?
Laminin mutation
What is the consequence of a mutation in ZIC3?
Results in Situs inversus
Which mutation causes Holt-Oram syndrome, affecting limb development?
TBX5 mutation
What does a mutation in SHH lead to?
Holoprosencephaly
What is the effect of a collagen mutation?
Leads to Osteogenesis imperfecta
What is the outcome of a mutation in Laminin?
Causes skin blistering
What role does pattern formation play in embryo development?
Establishes tissue organization and signaling centers for positional information
Study Notes
Molecular Basis of Developmental Disorders and Embryonic Development
- Transcription factors can have multiple targets, bind DNA, and alter gene expression, causing pleiotropic effects.
- Collagen mutation leads to Osteogenesis imperfecta, affecting bone formation.
- Fibrillin mutation causes Marfan Syndrome, characterized by tall stature and heart abnormalities.
- Elastin mutation results in Supravalvular aortic stenosis, affecting heart and blood vessels.
- Laminin mutation leads to Junctional Epidermolysis bullosa, causing skin blistering.
- Pattern formation in embryo development establishes tissue organization and signaling centers for positional information.
- Mutations in FGFR3 cause skeletal dysplasias like achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
- SOX10 mutation causes Hirschsprung disease, affecting colon motility, and SHH mutation leads to holoprosencephaly, affecting midline brain development.
- ZIC3 mutation causes Situs inversus, a complete reversal of left/right asymmetry.
- TBX5 mutation causes Holt-Oram syndrome, affecting limb development.
- FGF2, 4, 8 stimulate limb growth, while SHH maintains the apical ectodermal ridge (AER) in limb bud development.
- SHH also plays a role in determining the fate of cells in the neural tube, somites, limbs, and the left-right axis.
Test your knowledge of the molecular basis of developmental disorders and embryonic development with this quiz. Explore the impact of mutations in genes such as collagen, fibrillin, and elastin on conditions like Marfan Syndrome and Supravalvular aortic stenosis. Delve into the role of transcription factors, pattern formation, and signaling centers in embryo development, and discover how mutations in genes like FGFR3, SOX10, and SHH lead to various developmental disorders.
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