36 Questions
What is the function of the DNA binding domain of a transcription factor?
To bind to a promoter or enhancer
What is the potential number of proteins that can be synthesized in a cell?
105,000
What is the process called when one group of cells or tissues causes another set of cells or tissues to change their fate?
Induction
What is the term for the capacity to respond to a signal from an inducer cell or tissue?
Competence
What is the term for the initial transcript of a gene?
nRNA
What is the process called when introns are removed from nuclear RNA?
Splicing
What is the function of the transactivating domain of a transcription factor?
To activate or inhibit gene expression
Which syndrome is caused by chromosomal abnormalities?
Down syndrome
What is the main cause of mental retardation according to the passage?
Chromosomal abnormalities
What is the result of the splicing process in nuclear RNA?
Different proteins are synthesized from a single gene
Which technique is used to identify genetic abnormalities?
Cytogenetic analysis
What is the pattern of inheritance for some birth defects?
Mendelian pattern
What can be directly attributed to a change in a single gene?
Some birth defects
What is the cause of Angelman syndrome according to the passage?
Maternal chromosome defect
What is the primary reason for the study of embryology and fetal development?
To improve health care for women of childbearing age
What is the significance of grafting experiments in embryology?
They provide insights into signaling between tissues
What is the result of grafting the primitive node to another position on the body axis?
It induces a second body axis
What is the leading cause of infant mortality?
Birth defects
What is the potential impact of healthcare providers on the outcome of developmental processes?
They can have a major impact on the outcome of developmental processes
What is the significance of embryology in healthcare?
It is an important topic for all healthcare professionals
What is required for some inductive proteins to become active?
All of the above
What type of interaction occurs between two epithelial tissues, such as the induction of the lens by the epithelium of the optic cup?
Juxtacrine
What is the term for proteins derived from the same gene?
Splicing isoforms
What is the role of spliceosomes in alternative splicing?
To recognize specific sites on the initial transcript
What is the purpose of introns in alternative splicing?
To be spliced out to create different proteins
What is the term for the region of the RNA transcript that is not translated into protein?
Untranslated region
What type of interactions do not involve diffusable proteins?
Juxtacrine
What is the purpose of alternative splicing?
To create multiple proteins from a single gene
What is the primary cause of structural chromosome abnormalities?
Environmental factors
What is the result of inheriting the microdeletion on the maternal chromosome 15?
Angelman syndrome
What is the designation for the long arm of a chromosome?
q
What is the characteristic of children affected by cri-du-chat syndrome?
Cat-like cry, microcephaly, and mental retardation
What is the result of inheriting the microdeletion on the paternal chromosome 15?
Prader-Willi syndrome
What is the consequence of chromosome breakage?
Chromosomal deletion
What is the common feature of syndromes resulting from partial chromosome loss?
Mental retardation
What determines the characteristics of the syndrome resulting from a partial chromosome loss?
The parental origin of the deletion
Study Notes
Embryology and Development
- Embryology has led to new techniques for prenatal diagnoses and treatments, as well as mechanisms to prevent birth defects, which is the leading cause of infant mortality.
Signaling and Gene Expression
- Transcription factors have a DNA binding domain specific to a region of DNA, plus a transactivating domain that binds to a promoter or enhancer, and activates or inhibits the gene.
- Transcription factors themselves have multiple roles, including inducing one gene while silencing another by binding to different enhancers.
- The initial transcript of a gene is called nuclear RNA (nRNA) or premessenger RNA, which is longer than mRNA because it contains introns that are removed (spliced out) as the nRNA moves from the nucleus to the cytoplasm.
Alternative Splicing
- Alternative splicing allows cells to produce different proteins from a single gene by recognizing specific sites on the initial transcript of nuclear RNA from a gene.
- Different introns are "spliced out" to create more than one protein from a single gene, resulting in proteins derived from the same gene, called splicing isoforms.
Induction and Organ Formation
- Organs are formed by interactions between cells and tissues, often through induction, where one group of cells or tissues causes another set of cells or tissues to change their fate.
- The capacity to respond to an inductive signal is called competence, and inductive interactions can occur between two epithelial tissues.
Gametogenesis and Genetic Abnormalities
- Many birth defects are directly attributable to a change in the structure or function of a single gene, and some show a clear Mendelian pattern of inheritance.
- Cytogenetic analysis is used to assess chromosomal abnormalities, which can be inherited, and some cause various degrees of mental retardation.
This quiz explores the study of embryology and its applications in prenatal diagnoses, treatments, and fetal development. It covers the impact of embryology on our health and the importance of this field.
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