Developmental Disorders and Embryonic Development Quiz

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Questions and Answers

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 (correct)

They have a higher reproductive rate than other model organisms

They have a longer lifespan compared to other model organisms

They are more resistant to genetic mutations

What is the role of HOX genes in developmental genetics?

They regulate the overall growth rate of the organism

They establish spatial and temporal patterns of gene expression along the axis (correct)

They control the color patterns in the fur of the mice

They determine the reproductive capabilities of the organism

What is the definition of paralog as it applies to homeobox genes?

Genes responsible for regulating the immune response

Genes that control the circadian rhythm

Genes involved in energy metabolism

Homologous sequences of genes within the same genome (correct)

What is the consequence of a homeotic transformation?

Segment identity is altered due to the missing gene, resulting in transformation of the segment Signup and view all the answers

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 Signup and view all the answers

How do paracrine signal molecules primarily interact with nearby cells?

They are secreted into the intercellular space and diffuse to nearby cells Signup and view all the answers

Which family of paracrine signal molecules is known to be related to diverse organisms?

Wingless family (Wnt) Signup and view all the answers

What do DNA transcription factors primarily bind to in order to regulate gene expression?

DNA Signup and view all the answers

Which family of DNA transcription factors is known to cause pleiotropic effects when mutated?

Homeobox – HOX, PAX, EMX, MSX Signup and view all the answers

What is the primary function of extracellular matrix proteins in embryonic development?

Facilitate cell migration by providing a matrix for migration Signup and view all the answers

Which proteins act as a link between the extracellular matrix (ECM) and the cytoskeleton?

Integrins Signup and view all the answers

How do cells primarily bind to the extracellular matrix (ECM)?

Using specific proteins such as integrins Signup and view all the answers

What is the main role of paracrine signal molecules in causing gene expression changes?

Phosphorylation of proteins and signal transduction cascades Signup and view all the answers

Which mutation leads to Supravalvular aortic stenosis, affecting heart and blood vessels?

Elastin mutation Signup and view all the answers

What is the result of a mutation in FGFR3?

Skeletal dysplasias Signup and view all the answers

Which factor stimulates limb growth?

FGF2 Signup and view all the answers

What is the role of SHH in limb bud development?

Maintains the apical ectodermal ridge (AER) Signup and view all the answers

What does a mutation in SOX10 cause?

Hirschsprung disease Signup and view all the answers

Which mutation leads to Junctional Epidermolysis bullosa, causing skin blistering?

Laminin mutation Signup and view all the answers

What is the consequence of a mutation in ZIC3?

Results in Situs inversus Signup and view all the answers

Which mutation causes Holt-Oram syndrome, affecting limb development?

TBX5 mutation Signup and view all the answers

What does a mutation in SHH lead to?

Holoprosencephaly Signup and view all the answers

What is the effect of a collagen mutation?

Leads to Osteogenesis imperfecta Signup and view all the answers

What is the outcome of a mutation in Laminin?

Causes skin blistering Signup and view all the answers

What role does pattern formation play in embryo development?

Establishes tissue organization and signaling centers for positional information Signup and view all the answers

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.

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Description

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.